What is the anatomy of eye movements?
There are six external ocular muscles: two are supplied by nerves unique to them: the superior oblique is supplied by the trochlear nerve (IV), and the lateral rectus is supplied by the abducent nerve (VI). The other four external muscles, the internal muscles and the eyelid are supplied by the oculomotor nerve (III).
The four rectus muscles pull directly on the globe so that they move the eye in the direction of their name: superior, inferior, medial and lateral. The superior and inferior recti are not placed centrally so they have a tendency to move the eye medially but this is opposed by the two oblique muscles.
The oblique muscles move the eye outwards as well as up and down. Each hook round a ‘pulley’ so that it moves the eye the opposite way to that which its name suggests. Hence, the superior oblique muscle moves the eye down and out (the tramp’s muscle) and the inferior oblique muscle moves it up and out.
What is Diplopia?
Diplopia is a common complaint in medical practice. It may be monocular or binocular. An understanding of the anatomy of the eye, external ocular muscles and their innervation is essential to approach diagnosis of the cause.
What is Binocular double vision?
This occurs when the images produced by the two eyes do not absolutely match, so that the images produced are misaligned relative to one another. The diplopia disappears when one eye is covered. A study from Moorfields looked at patients presenting with diplopia as a principal symptom. Cranial nerve palsies were the most common cause of binocular diplopia (67%) with a half of these being abducent nerve palsies. Microvascular disease (hypertension, diabetes mellitus or both) was present in 59% of patients with cranial nerve palsies.
What is Monocular double vision?
This is much less common. It affects one eye only and continues when the unaffected eye is covered. It can be caused by abnormalities of the lens, cornea or retina, which result in splitting of the image. The study from Moorfields looked at patients presenting with diplopia as a principal symptom. Monocular diplopia accounted for about 11%.
Problems with eye movements can occur in children, where diplopia is not necessarily seen. See separate article Strabismus, dealing with eye movements and squint.
What are causes of diplopia by anatomical site?
Cornea and lens problems: problems affecting the cornea or lens, leading to production of unequal (or non-matching) images. These include refractive errors, keratoconus, cataracts, corneal scarring, subluxation and herpes zoster. Dryness of the cornea can occasionally cause double vision.
Eye muscle disorders: these include primary disorders of muscle such as myasthenia gravis, Graves’ disease and myotonic dystrophy. Muscles (particularly the inferior rectus) may be trapped during basal orbital fracture. Convergence insufficiency (inability to align the eyes when focusing on near objects) is a common benign cause of intermittent binocular diplopia which is worse when tired. It can often be treated with glasses, eye exercises or prisms.
Nerve problems: problems affecting the cranial nerves III, IV and VI controlling the eye muscles. These include multiple sclerosis, Guillain-Barré syndrome and diabetes mellitus. Temporary palsy of a single ocular nerve is not uncommon, and may be of unknown cause. It can also be associated with some infections (eg, Lyme disease) and with inflammatory conditions such as giant cell arteritis. However, it is most commonly seen with vasculopathies such as diabetes mellitus and hypertension. Isolated VI nerve palsy has been reported in children after ear nose and throat infections. Nerves can also be trapped following traumatic fracture of the orbital bones.
Brain problems: there are many possible causes of double vision inside the skull. These include vascular conditions such as strokes or aneurysms, space-occupying lesions in the orbit or skull (neoplastic or vascular), migraine or any cause of raised intracranial pressure. Raised intracranial pressure disproportionately affects the VI cranial nerve (abducens), as this has the longest intracranial course. Temporary diplopia may be caused by alcohol intoxication, or by head injuries such as concussion. It may be a side-effect of some drugs, including phenytoin, lamotrigine, zolpidem, opioids and ketamine.
What is the presentation of diplopia?
Diplopia presents either with a complaint of double vision or the observation of squint. Paralysis of a muscle means that the eye will not move fully in the direction in which it pulls. At rest, when the other muscles are unopposed, the eye may therefore deviate in the opposite direction from the pull of the affected muscle.
Diplopia may occur alone or in conjunction with other symptoms such as pain on eye movement, pain around the eyes, ptosis, headache or nausea.
What are the Symptoms of diplopia?
The patient will often complain of double vision. Images may overlap or be adjacent. It is helpful to ask about image alignment, whether they appear (or worsen) on particular direction of gaze, and whether they are intermittent or constant. It is also helpful to find out if the double vision disappears on closing one eye, and whether both images are in focus. There may be associated symptoms such as ptosis, eye pain (with or without eye movement), headache and nausea.
How to do examination for diplopia?
Check for ptosis, which is often the first sign of weakness. It suggests this is the affected side, as eyelid elevation is partly controlled by the oculomotor nerve (III).
Check the pupils and whether both are equal and react to light and accommodation. In Horner’s syndrome, which also causes ptosis, the pupil on the affected side will be smaller because of reduced sympathetic tone. In Horner’s syndrome there is loss of sweating and the finger may glide along the skin less easily.
Pupil abnormalities might otherwise signal that the cause lies inside the bony skull.
Visual acuity should be measured in each eye and may point to infraorbital problems, including retractive errors.
Fundoscopy should be performed to rule out papilledema.
Check the other cranial nerves as described in the separate article Neurological History and Examination.
Attempt to identify which eye is affected and which direction of gaze is limited. This will allow determination of which structures are likely to be involved. Examine the alignment of the eyes in various head positions and on looking in every direction. Note whether one eye seems to be deviated. Isolated palsy of only one of the muscles supplied by the oculomotor nerve is unusual.
Hold the head still with one hand and hold up the index finger of the other hand about 40 to 50 cms. from the eyes. Ask the patient to follow your finger to the left and the right, up and down, and to note when diplopia occurs.
If it is not clear that one eye is failing to move as far as the other, repeat the test but, instead of getting the patient to follow a finger, shine the light from a pen torch directly at their eyes. The light should be reflected in the centre of the pupil. When diplopia occurs, the reflection will appear eccentric in the pupil on the affected side.
How to check diplopia in Children?
In children, especially very small children, getting the child to follow a pen torch is much easier than asking the child to follow your finger and to report diplopia. The cover test may also be helpful. Ask the child to look at your face and then quickly cover one of their eyes. If there is a squint, the eye with the pathology will move to look directly at you only when the other is covered.
What are the Common causes of diplopia?
The intracranial course of the abducent nerve (VI) is long and so it is vulnerable at many sites. Hence, abducent nerve paralysis is important but it is a poor localising sign for a space-occupying lesion.
Isolated abducent nerve palsy is relatively common, occurring particularly in patients with vasculopathies such as diabetes.
Diplopia can be psychosomatic. This is suggested by inconsistency of history and unusual elements such as monocular double vision in both eyes, but it is nevertheless a diagnosis of exclusion. In particular, primary muscle disorders such as myasthenia gravis may cause ‘inconsistent’ diplopia.
Drug and alcohol intoxication may cause temporary diplopia. There will usually be other suggestive features.
Tiredness may cause abnormalities of eye muscle movement. Convergence insufficiency is more marked when tired. Transient diplopia may occur with tiredness, particularly if reading glasses are needed but absent or inadequate. Diagnosis is usually on the history but it is important to exclude other causes of muscle fatiguability.
About half of all patients with myasthenia gravis will present with ocular symptoms such as diplopia and 50-60% will progress to the full disease. This is, however, a condition of very low incidence. It may affect both eyes equally or unequally. Other rare conditions of muscle may also affect eye movements, including myotonic dystrophy.
Fluctuating weakness of external ocular muscles can occur in encephalopathy and sepsis. There will normally be confusion and other signs of severe illness.
Vertical gaze palsy is the inability to look up or down. It affects both eyes. Pupils are often unequal but fixed and there is usually no diplopia. Causes include Parkinson’s disease and progressive supranuclear palsy. (Inability to look down can lead to falling down stairs.)
Multiple sclerosis (MS) often presents with optic neuritis in which there is pain on eye movement and alteration or loss of vision. Diplopia can occur.
What are Five red flags in patients of diplopia?
Pupil involvement with third nerve palsy: large poorly reactive pupil with diplopia is the most common presentation of an aneurysm of the posterior communicating artery
Diplopia affecting two or more of lip, pupil and eye movement. This may suggest isolated third nerve palsy (as above), Horner’s Syndrome (small pupil and ptosis) due to carotid dissection, or inflammatory neuropathy (Guillain-Barré syndrome).
Multiple cranial nerve palsies: this suggests intracranial or meningeal tumour, polyneuropathy or cavernous sinus lesion.
Diplopia with weakness or fatigue: suggests myasthenia gravis.
Diplopia with new onset headache and scalp tenderness: suggests giant cell arteritis.
How to Investigate for diplopia?
Diagnosing which muscles are affected is usually straightforward. A final diagnosis of the underlying cause is unlikely to be reached in primary care, so referral is usually required. Before referral, check for diabetes (if it is not already diagnosed) and check blood pressure in case of hypertension.
MRI scan may show a tumour, an area of infarction or even an arterial aneurysm pressing on a nerve. It can also show demyelination.
CXR may reveal malignancy or sarcoidosis with BHL.
Other specialist investigations may be offered depending on the suspected cause.
Isolated cranial nerve palsies in patients with diabetes and hypertension do not usually need investigation unless they progress or fail to resolve over time.
Multiple nerve palsies are usually imaged, as are isolated nerve palsies in patients under 50 years without a long history of vasculopathy.
How to Manage diplopia?
Clinical management depends upon the cause.
In childhood strabismus, surgery may be required although this is not always the case. Treatment with botulinum toxin (which causes flaccid paralysis) is sometimes used. However, there is little clear evidence of its efficacy compared to surgical treatment, and complication rates (including ptosis and vertical deviation) can be high.
Patients with unexplained binocular diplopia and those who progress or fail to recover within a few months should be investigated further to establish the aetiology.
Is Driving allowed in diplopia?
People with diplopia must not drive. They may resume driving on confirmation to the licensing authority that the diplopia is controlled by glasses or by a patch which the licence holder undertakes to wear whilst driving. There will probably be permanent revocation of an LGV or PCV licence.
Exceptionally, a stable uncorrected diplopia of six months’ duration or more may be compatible with driving if there is consultant support indicating satisfactory functional adaptation.
What is the Prognosis of diplopia?
Prognosis is dependent on underlying cause. Patients with clinically isolated single nerve palsies associated with diabetes or hypertension are likely to recover within a few months, although a minority do not. A Moorfields study found complete resolution in 87% of this group within five months and 95% by twelve months. A VI nerve palsy of vascular cause typically resolves within six to eight weeks. If resolution does not occur within months, the condition progresses or, if additional neurological signs or symptoms develop, imaging studies are required.
What are Hyperintensities in basal ganglia?
The basal ganglia are most noted for their involvement in Parkinson’s and Huntington’s disease. While the two conditions share certain signs and symptoms, they are notably different. For example, Parkinson’s disease primarily affects the substantia nigra resulting in decreased production of the inhibitory neurotransmitter dopamine. One of the characteristic signs of Parkinson’s disease is that patients have a hard time initiating movement to get going. Huntington’s disease primarily affects the caudate nucleus and putamen. In contrast to decreased dopamine seen in Parkinson’s, Huntington’s disease is associated with excess glutamate and subsequent excitotoxicity. As for movement, patients with Huntington’s disease have a hard time preventing unwanted movements. What these conditions share in common, is that in advanced stages they can both significantly impair cognition. More recently, the basal ganglia have been implicated in multiple sclerosis (MS). Instead of the characteristic supratentorial periventricular and perivenular hyperintensity signals associated with the white matter of myelinated nerves seen in MS, they show up as hypo intensity signals found in the grey matter nuclei, such as the basal ganglia, that are located deep within the lobes of the brain along the lateral ventricles. The difference between hyper and hypo-intensity signals seen on MRI in MS has to do with fluid content and the ability of fluids to diffuse through different densities and types of tissues that surround them. Thicker fluids don’t diffuse as well as thinner fluids. The differences in thickness and diffusibility affect appearances on MRI scans
What are neurological procedures?
Diagnostic procedures should not be used for preliminary screening, except perhaps in emergencies when a complete neurologic evaluation is impossible. Evidence uncovered during the history and physical examination should guide testing.
What is Lumbar puncture (spinal tap)?
Lumbar puncture is used to evaluate intracranial pressure and CSF composition to therapeutically reduce intracranial pressure (eg, pseudotumor), and to administer intrathecal drugs or a radiopaque dye for myelography.
Relative contraindications include
Infection at the puncture site
Increased intracranial pressure due to an intracranial mass lesion, obstructed CSF outflow (eg, due to aqueduct stenosis or Chiari I malformation), or spinal cord CSF blockage (eg, due to tumour cord compression)
If papilledema or focal neurologic deficits are present, CT or MRI should be done before lumbar puncture to rule out presence of a mass that could precipitate trans tentorial or cerebellar herniation.
Cell count and differential and glucose and protein levels aid in the diagnosis of many neurologic disorders. If infection is suspected, the centrifuged CSF sediment is stained for bacteria (Gram stain), for TB (acid-fast stain or immunofluorescence), and for Cryptococcus sp (India ink). Larger amounts of fluid (10 mL) improve the chances of detecting the pathogen, particularly acid-fast bacilli and certain fungi, in stains and cultures. In early meningococcal meningitis or severe leukopenia, CSF protein may be too low for bacterial adherence to the glass slide during Gram staining, producing a false-negative result. Mixing a drop of aseptic serum with CSF sediment prevents this problem. When haemorrhagic meningoencephalitis is suspected, a wet mount is used to search for amoebas. Latex particle agglutination and conglutination tests may allow rapid bacterial identification, especially when stains and cultures are negative (eg, in partially treated meningitis). CSF should be cultured aerobically and anaerobically and for acid-fast bacilli and fungi. Except for enteroviruses, viruses are seldom isolated from the CSF. Viral antibody panels are available. Venereal Disease Research Laboratories (VDRL) testing and cryptococcal antigen testing are often routinely done. PCR tests for herpes simplex virus and other CNS pathogens are increasingly available.
Normally, CSF:blood glucose ratio is about 0.6, and except in severe hypoglycaemia, CSF glucose is typically > 50 mg/dL (> 2.78 mmol/L). Increased CSF protein (> 50 mg/dL) is a sensitive but nonspecific index of disease; protein increases to > 500 mg/dL in purulent meningitis, advanced TB meningitis, complete block by spinal cord tumor, or a bloody puncture. Special examinations for globulin (normally < 15%), oligoclonal banding, and myelin basic protein aid in diagnosis of a demyelinating disorder. What is CT? In CT, an x-ray source and x-ray detector housed in a doughnut-shaped assembly move circularly around a patient who lies on a motorized table that is moved through the machine. Usually, multidetector scanners with 4 to 64 or more rows of detectors are used because more detectors allow quicker scanning and higher-resolution images. Data from the detectors essentially represent a series of x-ray images taken from multiple angles all around the patient. However, the images are not viewed directly but are sent to a computer, which quickly reconstructs them into 2-dimensional images (tomograms) representing a slice of the body in any plane desired. Data can also be used to construct detailed 3-dimensional images. For some CT scans, the table moves incrementally and stops when each scan (slice) is taken. For other CT scans, the table moves continuously during scanning; because the patient is moving in a straight line and the detectors are moving in a circle, the series of images appear to be taken in a spiral fashion around the patient—hence the term helical (spiral) CT. These same principles of tomographic imaging can also be applied to radionuclide scanning, in which the sensors for emitted radiation encircle the patient and computer techniques convert the sensor data into tomographic images; examples include single-photon emission CT (SPECT) and positron-emission tomography (PET). Uses Compared with plain x-rays, the tomographic slices of CT provide more spatial detail and can better differentiate between various soft-tissue densities. Because it provides so much more information, CT is preferred to plain x-rays for imaging most intracranial, head and neck, spinal, intrathoracic, and intra-abdominal structures. Three-dimensional images of lesions can help surgeons plan surgery. CT is the most accurate study for detecting and localizing urinary calculi. CT may be done with or without IV contrast. Non contrast CT is used to detect acute haemorrhage in the brain, urinary calculi, and lung nodules, as well as to characterize bone fractures and other skeletal abnormalities. The CT table may not be able to accommodate very obese patients. CT provides rapid, non-invasive imaging of the brain and skull. CT is superior to MRI in visualizing fine bone detail in (but not the contents of) the posterior fossa, base of the skull, and spinal canal. A radiopaque contrast agent helps detect brain tumors and abscesses. Noncontract CT is used to rapidly detect acute haemorrhage and various gross structural changes without concern about contrast allergy or renal failure. With an intrathecal agent, CT can outline abnormalities encroaching on the brain stem, spinal cord, or spinal nerve roots (eg, meningeal carcinoma, herniated disk) and may detect a syrinx in the spinal cord. CT angiography using a contrast agent can show the cerebral blood vessels, obviating the need for MRI or angiography. Adverse effects of contrast agents (see Principles of Radiologic Imaging: Radiographic Contrast Agents and Contrast Reactions) include allergic reactions and contrast nephropathy. What is MRI? MRI provides better resolution of neural structures than CT. This difference is most significant clinically for visualizing cranial nerves, brain stem lesions, abnormalities of the posterior fossa, and the spinal cord; CT images of these regions are often marred by bony streak artifacts. Also, MRI is better for detecting demyelinating plaques, early infarction, subclinical brain oedema, cerebral contusions, incipient trans tentorial herniation, abnormalities of the cranio-cervical junction, and syringomyelia. MRI is especially valuable for identifying spinal abnormalities (eg, tumour, abscess) compressing the spinal cord and requiring emergency intervention. MRI is contraindicated in patients who have had a pacemaker or cardiac or carotid stents for < 6 wk. or who have ferromagnetic aneurysm clips or other metallic objects that may overheat or be displaced within the body by the intense magnetic field. Visualization of inflammatory, demyelinated, and neoplastic lesions may require enhancement with IV paramagnetic contrast agents (eg, gadolinium). Although gadolinium is thought to be much safer than contrast agents used with CT, nephrogenic systemic fibrosis (nephrogenic fibrosing dermopathy) has been reported in patients with impaired renal function and acidosis. Diffusion-weighted imaging (DWI) allows rapid, early detection of ischemic stroke. Perfusion-weighted imaging (PWI) can detect areas of hypoperfusion in early ischemic stroke but cannot yet reliably distinguish areas with benign oligemia from those with injurious hypoperfusion that results in infarction. Diffusion tensor imaging (DTI) is an extension of DWI that can show white matter tracts in 3 dimensions (tractography) and can be used to monitor the integrity of CNS tracts affected by aging and disease. Double inversion recovery (DIR), used in research centres, can detect demyelination of grey matter better than other MRI techniques; grey matter demyelination is now considered common in multiple sclerosis. MRI uses magnetic fields and radio waves to produce images of thin slices of tissues (tomographic images). Normally, protons within tissues spin to produce tiny magnetic fields that are randomly aligned. When surrounded by the strong magnetic field of an MRI device, the magnetic axes align along that field. A radiofrequency pulse is then applied, causing the axes of all protons to momentarily align against the field in a high-energy state. After the pulse, some protons relax and resume their baseline alignment within the magnetic field of the MRI device. The magnitude and rate of energy release that occurs as the protons resume this alignment (T1 relaxation) and as they wobble (precess) during the process (T2 relaxation) are recorded as spatially localized signal intensities by a coil (antenna). Computer algorithms analyse these signals and produce anatomic images. The relative signal intensity (brightness) of tissues in an MRI image is determined by factors such as the radiofrequency pulse and gradient waveforms used to obtain the image, intrinsic T1 and T2 tissue characteristics, and tissue proton density. By controlling the radiofrequency pulse and gradient waveforms, computer programs produce specific pulse sequences that determine how an image is obtained (weighted) and how various tissues appear. Images can be T1-weighted, T2-weighted, or proton density–weighted. For example, fat appears bright (high signal intensity) on T1-weighted images and relatively dark (low signal intensity) on T2-weighted images; water and fluids appear relatively dark on T1-weighted images and bright on T2-weighted images. T1-weighted images optimally show normal soft-tissue anatomy and fat (eg, to confirm a fat-containing mass). T2-weighted images optimally show fluid and abnormalities (eg, tumors, inflammation, trauma). In practice, T1- and T2-weighted images provide complementary information, so both are important for characterizing abnormalities. Uses MRI is preferred to CT when soft-tissue contrast resolution must be highly detailed (eg, to evaluate intracranial or spinal cord abnormalities, inflammation, trauma, suspected musculoskeletal tumors, internal joint derangement). MRI is also useful for evaluating the following: Vascular imaging: Magnetic resonance angiography (MRA) is used to image arteries with good diagnostic accuracy and is less invasive than conventional angiography. Gadolinium contrast is sometimes used. MRA can be used to image the thoracic and abdominal aorta and arteries of the brain, neck, kidneys, and lower extremities. Venous imaging (magnetic resonance venography) can also be done. Hepatic and biliary tract abnormalities: Magnetic resonance cholangiopancreatography (MRCP) is particularly valuable as a non-invasive, highly accurate method of imaging the biliary and pancreatic duct systems. Masses in the female reproductive organs: MRI is used to characterize adnexal masses and to stage uterine tumors. Certain fractures: For example, MRI can provide accurate images of hip fractures in patients with osteopenia. Lytic bone metastases MRI can also be substituted for CT with contrast in patients with a high risk of contrast reactions. Contrast: With MRI, contrast agents may be used to highlight vascular structures (for MRA) and to help characterize inflammation and tumors. The most commonly used agents are gadolinium derivatives, which have magnetic properties that affect proton relaxation times. MRI of intra-articular structures may include injection of a gadolinium derivative into a joint. Variations Diffusion (diffusion-weighted) MRI: Signal intensities are related to diffusion of water molecules in tissue. This type of MRI can be used to detect early cerebral ischemia and infarction and to differentiate intracranial cysts from solid masses. Echo planar imaging: This ultrafast technique (images obtained in > 1 sec) is used for diffusion, perfusion, and functional imaging of the brain and heart. Its potential advantages include showing brain and heart activity and reducing motion artifacts. However, its use is limited because it requires special technical hardware and it is susceptible to other artifacts. Functional MRI: Functional MRI is used to assess brain activity by location. In the most common type, the brain is scanned at low resolution very frequently (eg, every 2 to 3 sec). The change in oxygenated Hb can be discerned and used to estimate metabolic activity. Mechanisms of various neural mechanisms can be studied in research settings. Gradient echo imaging: Gradient echo is a pulse sequence that can be used for fast imaging of moving blood and CSF (eg, in MRA). Because this technique is fast, it can reduce motion artifacts (eg, blurring) during imaging that requires patients to hold their breath (eg, during imaging of cardiac and abdominal structures). Magnetic resonance spectroscopy (MRS): MRS combines the information obtained by MRI (mainly based on water and fat content of tissues) with that of nuclear magnetic resonance, or NMR; NMR provides information about tissue metabolites. Such information can help differentiate certain abnormalities (eg, certain types of tumors). Perfusion MRI: Perfusion MRI is a method of assessing relative cerebral blood flow. It can be used to detect an area of ischemia during imaging for stroke. Disadvantages MRI is relatively expensive and may not be available or available immediately. Magnetic field: MRI is relatively contraindicated in patients with implanted materials that can be affected by powerful magnetic fields. These materials include ferromagnetic metal (containing iron), magnetically activated or electronically controlled medical devices (eg, pacemakers, implantable cardioverter defibrillators, cochlear implants), and nonferromagnetic metal electronically conductive wires or materials (eg, pacemaker wires, certain pulmonary artery catheters). Ferromagnetic material may be moved by the strong magnetic field and injure a nearby organ; movement is more likely if the material has been in place < 6 week (before scar tissue forms). Ferromagnetic material can also cause imaging artifacts. Magnetically activated medical devices may malfunction when exposed to magnetic fields. Magnetic fields may induce current in conductive materials; this current may produce enough heat to burn tissues. Whether a specific device is compatible with MRI depends on the type of device, its components, and its manufacturer (see the MRI safety web site). Also, MRI machines with different magnetic field strengths have different effects on materials, so safety in one machine does not ensure safety in another. The MRI magnetic field is very strong and always on. Thus, a ferromagnetic object (eg, an O2 tank, a metal pole) at the entrance of the scanning room may be pulled into the magnet bore at high velocity and injure anyone in its path. The only way to separate the object from the magnet may be to turn off the magnetic field. Claustrophobia: The imaging tube of an MRI machine is a tight, enclosed space that can trigger claustrophobia even in patients without pre-existing phobias or anxiety. Also, some obese patients do not fit on the table or within the machine. Premedication with an anxiolytic (eg, alprazolam or lorazepam 1 to 2 mg po) 15 to 30 min before scanning is effective for most anxious patients. MRI scanners with an open side can be used. Its images may be inferior to those of enclosed scanners depending on the field strength of the magnet, but they are usually sufficient for making a diagnosis. Patients should be warned that the MRI machine makes loud, banging noises. Contrast reactions: Gadolinium derivatives, if used, can cause headache, nausea, and pain, as well as sensation of cold at the injection site. However, serious contrast reactions are rare and much less common than with iodinated contrast agents. However, in patients with impaired renal function, nephrogenic systemic fibrosis is a risk. Nephrogenic systemic fibrosis is a rare but life-threatening disorder that involves the skin and probably internal organs, resulting in severe disability or death. For patients with impaired renal function, the following is recommended: Gadolinium should be used only when necessary. Before this agent is used, renal function should be checked (e.g., based on patient history or laboratory tests such as GFR). The dose should be as small as possible, and the number of tests done should be limited if possible. If a second test is required, it should be delayed about 1 wk.
What is Magnetic resonance angiography (MRA)?
It uses MRI with or without a contrast agent to show cerebral vessels and major arteries and their branches in the head and neck. Although MRA has not replaced cerebral angiography, it is used when cerebral angiography cannot be done (eg, because the patient refuses or has increased risk). As a check for stroke, MRA tends to exaggerate severity of arterial narrowing and thus does not usually miss occlusive disease of large arteries.
What is Magnetic resonance venography (MRV)?
It uses MRI to show the major veins and dural sinuses of the cranium. MRV obviates the need for cerebral angiography in diagnosing cerebral venous thrombosis and is useful for monitoring thrombus resolution and guiding the duration of anticoagulation. Magnetic resonance spectroscopy can measure metabolites in the brain regionally to distinguish tumors from abscess or stroke.
What is Functional MRI (fMRI)?
It shows which brain regions are activated (shown by increased flow of oxygenated blood) by a specific cognitive or motor task, but its clinical use is still being defined.
What is Echoencephalography?
Ultrasonography can be used at the bedside (usually in the neonatal ICU) to detect hemorrhage and hydrocephalus in children
What is EEG?
Electroencephalography (EEG) is an electrophysiological monitoring method to record electrical activity of the brain. It is typically non-invasive, with the electrodes placed along the scalp, although invasive electrodes are sometimes used, as in electrocorticography. EEG measures voltage fluctuations resulting from ionic current within the neurons of the brain. Clinically, EEG refers to the recording of the brain’s spontaneous electrical activity over a period of time, as recorded from multiple electrodes placed on the scalp. The EEG is examined for asymmetries between the 2 hemispheres (suggesting a structural disorder), for excessive slowing (appearance of 1- to 4-Hz, 50- to 350-μV delta waves, as occurs in depressed consciousness, encephalopathy, and dementia), and for abnormal wave patterns.
Abnormal wave patterns may be nonspecific (eg, epileptiform sharp waves) or diagnostic (eg, 3-Hz spike and wave discharges for absence seizures, 1-Hz periodic sharp waves for Creutzfeldt-Jakob disease). The EEG is particularly useful for appraising episodic altered consciousness of uncertain aetiology. If a seizure disorder is suspected and the routine EEG is normal, manoeuvres that electrically activate the cortex (eg, hyperventilation, photic stimulation, sleep, sleep deprivation) can sometimes elicit evidence of a seizure disorder. Nasopharyngeal leads can sometimes detect a temporal lobe seizure focus when the EEG is otherwise uninformative. Continuous ambulatory monitoring of the EEG (with or without video monitoring) over 24 h can often determine whether fleeting memory lapses, subjective auras, or unusual episodic motor behaviour is due to seizure activity. If clinicians need to determine whether an episode is a seizure or a psychiatric disorder, a video camera may be used to monitor the patient while EEG is done in the hospital. This technique (called video EEG) is also used before surgery to see what type of seizure results from an abnormality in a particular epileptogenic focus.
What is Measurement of evoked responses (potentials)?
Visual, auditory, or tactile stimuli are used to activate corresponding areas of the cerebral cortex, resulting in focal cortical electrical activity. Ordinarily, these small potentials are lost in EEG background noise, but computer processing cancels out the noise to reveal a waveform. Latency, duration, and amplitude of the evoked responses indicate whether the tested sensory pathway is intact.
Evoked responses are particularly useful for detecting clinically inapparent deficits in a demyelinating disorder, appraising sensory systems in infants, substantiating deficits suspected to be histrionic, and following the subclinical course of disease. For example, visual evoked responses may detect unsuspected optic nerve damage caused by multiple sclerosis. When integrity of the brain stem is in question, brain stem auditory evoked responses is an objective test. Somatosensory evoked responses may pinpoint the physiologic disturbance when a structural disorder (eg, metastatic carcinoma that invades the plexus and spinal cord) affects multiple levels of the neuraxis. Somatosensory evoked responses can also help predict the prognosis of patients in a coma, particularly those with hypothermia, when the usual bedside indicators are unclear.
What is Electromyography and nerve conduction studies?
When determining whether weakness is due to a nerve, muscle, or neuromuscular junction disorder is clinically difficult, these studies can identify the affected nerves and muscles.
In electromyography, a needle is inserted in a muscle, and electrical activity is recorded while the muscle is contracting and resting. Normally, resting muscle is electrically silent; with minimal contraction, action potentials of single motor units appear. As contraction increases, the number of potentials increases, forming an interference pattern. Denervated muscle fibers are recognized by increased activity with needle insertion and abnormal spontaneous activity (fibrillations and fasciculations); fewer motor units are recruited during contraction, producing a reduced interference pattern. Surviving axons branch to innervate adjacent muscle fibres, enlarging the motor unit and producing giant action potentials. In muscle disorders, individual fibers are affected without regard to their motor units; thus, amplitude of their potentials is diminished, but the interference pattern remains full.
In nerve conduction studies, a peripheral nerve is stimulated with electrical shocks at several points along its course to a muscle, and the time to initiation of contraction is recorded. The time an impulse takes to traverse a measured length of nerve determines conduction velocity. The time required to traverse the segment nearest the muscle is called distal latency. Similar measurements can be made for sensory nerves. Nerve conduction studies test large, myelinated nerves, not thinly myelinated or unmyelinated nerves. In neuropathy, conduction is often slowed, and the response pattern may show a dispersion of potentials due to unequal involvement of myelinated and unmyelinated axons. However, when neuropathies affect only small umyelinated or thinly myelinated fibers (or when weakness is due to a muscle disorder), results are typically normal. A nerve can be repeatedly stimulated to evaluate the neuromuscular junction for fatigability; eg, a progressive decremental response occurs in myasthenia gravis.
What is Biopsy?
Nerve and muscle biopsy are usually done simultaneously. Nerve biopsy can help differentiate axonal from demyelinating polyneuropathies when other tests are inconclusive. A nerve supplying the affected area should be chosen. If polyneuropathy may be caused by vasculitis, the sample should include skin to increase the chances of finding a characteristic vascular abnormality. If the biopsy shows that nerve endings are lost, skin punch biopsy can help confirm small-fiber polyneuropathy. Muscle biopsy can help confirm myopathies.
What is Hemifacial spasm?
Hemifacial spasm (HFS) is a rare neuromuscular disease characterized by irregular, involuntary muscle contractions (spasms) on one side (hemi-) of the face (-facial). The facial muscles are controlled by the facial nerve (seventh cranial nerve), which originates at the brainstem and exits the skull below the ear where it separates into five main branches. This disease takes two forms: typical and atypical. In typical form, the twitching usually starts in the lower eyelid in orbicularis oculi muscle. As time progresses, it spreads to the whole lid, then to the orbicularis oris muscle around the lips, and buccinator muscle in the cheekbone area. The reverse process of twitching occurs in atypical hemifacial spasm; twitching starts in orbicularis oris muscle around the lips, and buccinator muscle in the cheekbone area in the lower face, then progresses up to the orbicularis oculi muscle in the eyelid as time progresses. The most common form is the typical form, and atypical form is only seen in about 2–3% of patients with hemifacial spasm. The incidence of hemifacial spasm is approximately 0.8 per 100,000 persons.
What is hemi spatial neglect syndrome?
The syndrome of hemi spatial neglect is characterised by reduced awareness of stimuli on one side of space, even though there may be no sensory loss.
What are Hereditary motor neuropathies?
Hereditary motor and sensory neuropathies (HMSN) is a name sometimes given to a group of different neuropathies which are all characterized by their impact upon both afferent and efferent neural communication. HMSN are characterised by atypical neural development and degradation of neural tissue.
What is Hereditary sensory neuropathy?
For instance, Charcot-Marie-Tooth (CMT) disease, one of the most common types of hereditary neuropathies, affects the motor and sensory nerves. Hereditary neuropathies can have similar symptoms. Some of the most common symptoms include: Sensory symptoms: Pain, tingling, or numbness, often in the hands and feet.
What is Hereditary spastic paraplegia?
Hereditary spastic paraplegia (HSP), also called familial spastic paraparesis (FSP), refers to a group of inherited disorders that are characterized by progressive weakness and spasticity (stiffness) of the legs. Early in the disease course, there may be mild gait difficulties and stiffness.
What is Heredopathia atactica polyneuritiformis?
Heredopathia Atactica Polyneuritiformis (Phytanic Acid Storage) Or Refsum disease is an autosomal recessive neurological disease that results in the over-accumulation of phytanic acid in cells and tissues. It is one of several disorders named after Norwegian neurologist Sigvald Bernhard Refsum (1907–1991).
What is Herpes zoster?
A viral infection caused by varicella-zoster characterised by painful rash with blisters. Common (More than 10 lakh cases per year in India). Transmitted through direct contact. Usually preventable by vaccine. Can last several days or weeks
What is Herpes zoster oticus?
Ramsay Hunt syndrome (herpes zoster oticus or auricular herpes zoster). The presenting feature is often pain deep within the ear. It may be paroxysmal at first but, after a day or two, the pain often radiates outward into the pinna and there is a more constant, diffuse and dull background pain.
The following may also be presenting features:
Vertigo and ipsilateral hearing loss or hyperacusis.
Facial weakness or face drop.
Rash or blisters, which may be on the skin of the ear canal, auricle or both, and may become infected secondarily, causing cellulitis
There is a rash or herpetic blister in the distribution of the nervus intermedius.
The distribution of the rash varies, as does the area innervated by the nervus intermedius. It may include the following:
The anterior two thirds of one side of the tongue.
The soft palate.
The external auditory canal, visible only with an otoscope.
An ipsilateral facial drop or weakness may be obvious or it may only be elicited on testing.
There may be hyperacusis on the affected side due to paralysis of the stapedius and tensor tympani.
The patient may have associated ipsilateral hearing loss and balance problems.
The weakness of the facial nerve will show a lower motor neurone pattern as with Bell’s palsy. Ask the patient to give a big grin showing their teeth. Ask them to screw up their eyes. Ask them to raise their eyebrows. The upper motor neurone (UMN) innervation of the forehead is bilateral, so that in an UMN lesion of the face, the muscles of the forehead are spared.
The unilateral facial weakness is very similar to Bell’s palsy but neither pain nor a rash occurs with Bell’s palsy.
A rash is not always present (herpes zoster sine herpete), when the diagnosis can only be confirmed by virological testing.
If vertigo is present, consider viral labyrinthitis or a stroke of the posterior inferior cerebellar artery region.
Trigeminal neuralgia is paroxysmal and tends to be precipitated by a stimulus such as a cold wind or washing the face.
Other conditions include:
Persistent idiopathic facial pain.
Otitis (externa or media).
Referred pain (eg, dental abscess).
Carcinoma of the nasopharynx.
Virological studies, both serological and molecular, are available but usually the diagnosis is clinical. Audiometry may be performed. Occasionally, nerve conduction studies may be done to determine the extent of damage to the facial nerve and potential for recovery.
Beware of possible immune compromise; an HIV test may be indicated and should be performed in severe cases or if more than one dermatome is affected.
In essence, although prompt treatment (within 72 hours) has been shown to be beneficial in patients with shingles, there is a paucity of data regarding the efficacy in Ramsay Hunt syndrome both of: However, prompt combination treatment is nevertheless recommended, to improve the remission of facial paresis and hearing loss.
A proportion of patients clinically diagnosed with ‘Bell’s palsy’ have Ramsay Hunt syndrome without a rash (herpes zoster sine herpete). Treatment of these patients with acyclovir and prednisolone within seven days of onset has been shown to improve the outcome for recovery from facial palsy. In view of this occurrence, a case can be made for adding antivirals to the treatment of such apparent cases of Bell’s palsy. The latter is otherwise thought to be caused by herpes simplex. The number of patients with peripheral facial nerve palsy who, following serological and PCR studies, have herpes zoster sine herpete appears to be small but varies between series from 8-28%.
If there is problem with closing the eye, a pad will protect the cornea and eye lubricants should be prescribed.
If closure of the eye is compromised, abrasions may occur.
Lesions may acquire secondary bacterial infection.
Postherpetic neuralgia may occur.
Chronic vestibular dysfunction.
Early diagnosis and initiation of treatment within 72 hours of the onset of symptoms improves outcome.
The rash will resolve but, unlike Bell’s palsy, the rate of complete recovery of facial function is only 75%, even if treatment was initiated within three days, especially if aged over 50 and in the presence of complete paralysis.
Scarring of deep lesions may occur.
Presence of vertigo is a poor prognostic feature.
Hearing loss usually recovers well, with only 5% having residual problems.
Age, diabetes and hypertension appear to be poor prognostic features.
The role of steroids.
What is Hirayama syndrome?
Hirayama’s disease is a very rare benign disorder, also referred to as monomelic amyotrophy (MMA), Juvenile non-progressive amyotrophy, Sobue disease. It is an untreatable, focal, lower motor neuron type of disease. The benign nature of MMA helps to distinguish it from other lower motor neuron disorders like amyotrophic lateral sclerosis (ALS).
Is Hirayama disease hereditary?
Unlike other forms of lower motor neuron diseases, Hirayama’s disease is not one that is believed to be hereditary. For people who have this disease, ‘fasciculations,’ or involuntary muscle twitches, are rare. Hirayama’s disease is much less common in North America.
What are the symptoms of Hirayama disease?
The signs and symptoms of Hirayama’s disease can include: 1 No pain 2 Weak grip 3 Clawed hand 4 Hand tremors 5 Weak hand muscles 6 Wasted hand muscles 7 Wasting of a single limb 8 Weak lower arm muscles 9 Weakness of a single limb 10 Wasted lower arm muscles More items
Does Hirayama disease worsen with age?
After this period of time, the muscular atrophy does not improve; however, it does not worsen either. People with Hirayama’s disease do not experience pain or sensory loss because of the disease. Unlike other forms of lower motor neuron diseases, Hirayama’s disease is not one that is believed to be hereditary.
What is Holmes Adie syndrome?
Holmes-Adie syndrome (HAS) first described in 1931 is characterized by unilateral or bilateral dilatation of the pupil and lack of light reaction because of postganglionic injury of the parasympathetic oculomotor nerve. Ciliary muscle denervation causes accommodation impairment, while sphincter pupillae denervation produces mydriasis.
What is Holoprosencephaly?
Holoprosencephaly (HPE) is a cephalic disorder in which the prosencephalon (the forebrain of the embryo) fails to develop into two hemispheres. Normally, the forebrain is formed and the face begins to develop in the fifth and sixth weeks of human pregnancy.
What is HTLV-I associated myelopathy?
HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a progressive disease of the nervous system that affects less than 2% of people with HTLV-1 infection.HTLV-1 Associated Myelopathy (HAM) is a slowly progressive, chronic disease of the spinal cord seen in some people infected with the HTLV-1 virus, which results in painful stiffness and weakness of the legs. HAM is also referred to as chronic progressive myelopathy or tropical spastic paraparesis (TSP).
What are the symptoms of HTLV-1 associated myelopathy?
Slowly progressive weakness and spasticity of one or both legs.
Exaggerated reflexes (hyperreflexia)
Muscle contractions in the ankle (ankle clonus)
Lower back pain.
A ‘weak’ bladder and/or urinary incontinence.
Minor sensory changes, especially burning or prickling sensations and loss of vibration sense.
What is Huntington’s disease?
Huntington’s disease is a progressive brain disorder caused by a single defective gene on chromosome 4 — one of the 23 human chromosomes that carry a person’s entire genetic code. This defect is “dominant,” meaning that anyone who inherits it from a parent with Huntington’s will eventually develop the disease. Symptoms of Huntington’s disease can include: difficulty concentrating and memory lapses, depression, stumbling and clumsiness
What is Hydranencephaly?
By definition hydranencephaly is the cerebral abnormality in which the neopallium is reduced to a thin, nearly transparent pial -glial membrane with no associated parenchyma other than a thin layer of ependyma lining the expanded lateral ventricle.
How is hydranencephaly diagnosed?
Diagnosis may be delayed for several months because the infant’s early behaviour appears to be relatively normal. Transillumination, an examination in which light is passed through body tissues, can be used to diagnose hydranencephaly.
What is Hydrocephalus?
Hydrocephalus is the build-up of fluid in the cavities (ventricles) deep within the brain. The excess fluid increases the size of the ventricles and puts pressure on the brain. Cerebrospinal fluid normally flows through the ventricles and bathes the brain and spinal column. But the pressure of too much cerebrospinal fluid associated with hydrocephalus can damage brain tissues and cause a range of impairments in brain functions.
What is Hypercortisolism?
Cushing syndrome occurs when your body is exposed to high levels of the hormone cortisol for a long time. Cushing syndrome, sometimes called hypercortisolism, may be caused by the use of oral corticosteroid medication. The condition can also occur when your body makes too much cortisol on its own. Too much cortisol can produce some of the hallmark signs of Cushing syndrome — a fatty hump between your shoulders, a round face, and pink or purple stretch marks on your skin. Cushing syndrome can also result in high blood pressure, bone loss and, on occasion, type 2 diabetes. Signs and symptoms may include high blood pressure, abdominal obesity but with thin arms and legs, reddish stretch marks, a round red face, a fat lump between the shoulders, weak muscles, weak bones, acne, and fragile skin that heals poorly. Women may have more hair and irregular menstruation. Occasionally there may be changes in mood and headaches.
What is Hypoalgesia?
Hypoalgesia or hypalgesia denotes a decreased sensitivity to painful stimuli. Hypoalgesia occurs when nociceptive (painful) stimuli are interrupted or decreased somewhere along the path between the input (nociceptors), and the places where they are processed and recognized as pain in the conscious mind.
What does hypoesthesia mean?
Hypoesthesia is total or partial loss of sensation in a part of your body. Sometimes it’s accompanied by a pins-and-needles tingling. In addition to losing a sense of pain, temperature, and touch, you may not feel the position of the numb part of your body. In general, hypoesthesia results from an injury or irritation of a nerve or nerves.
What is Hypoxia?
Hypoxia is a condition in which the body or a region of the body is deprived of adequate oxygen supply at the tissue level. Hypoxia may be classified as either generalized, affecting the whole body, or local, affecting a region of the body. Although hypoxia is often a pathological condition, variations in arterial oxygen concentrations can be part of the normal physiology, for example, during hypoventilation training or strenuous physical exercise.
What is Immune-mediated encephalomyelitis?
Acute disseminated encephalomyelitis (ADEM), or acute demyelinating encephalomyelitis, is a rare autoimmune disease marked by a sudden, widespread attack of inflammation in the brain and spinal cord. As well as causing the brain and spinal cord to become inflamed, ADEM also attacks the nerves of the central nervous system and damages their myelin insulation, which, as a result, destroys the white matter.
What is Inclusion body myositis?
Inclusion body myositis (IBM) [my-oh-SIGH-tis] (sometimes called sporadic inclusion body myositis, sIBM) is the most common inflammatory muscle disease in older adults. The disease is characterized by slowly progressive weakness and wasting of both proximal muscles (closest to the body’s midline) and distal muscles (the limbs), most apparent in the finger flexors and knee extensors.
What is Incontinentia pigmenti?
Incontinentia pigmenti (IP) is a genetic ectodermal dysplasia affecting the skin, hair, teeth, microvasculature, and central nervous system. Progressive skin changes occur in four stages, the first of which appear in early infancy or can be present at birth. Incontinentia pigmenti (IP) is an inherited disorder of skin pigmentation that is also associated with abnormalities of the teeth, skeletal system, eyes, and central nervous system. It is one of a group of gene-linked diseases known as neurocutaneous disorders.
What happens in Refsum disease?
Refsum disease is an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms. The vision loss associated with Refsum disease is caused by an eye disorder called retinitis pigmentosa. This disorder affects the retina, the light-sensitive layer at the back of the eye.
What is the definition of infantile spasms?
Definition. An infantile spasm (IS) is a specific type of seizure seen in an epilepsy syndrome of infancy and childhood known as West Syndrome. West Syndrome is characterized by infantile spasms, developmental regression, and a specific pattern on electroencephalography (EEG) testing called hypsarrhythmia (chaotic brain waves).
What are the different types of muscle disease?
The main types of muscle disease have been discussed below:
Neuromuscular Muscle Diseases.
Metabolic Muscle Diseases.
Inflammatory Muscle Diseases.
General manifestations of inflammatory myopathy include:
Muscle weakness and inflammation in the neck, shoulders or hips
Shortness of breath
Trouble climbing stairs, getting up from a seat, or reaching for objects overhead
Choking while eating food into the lungs
What is Inflammatory myopathy?
Inflammatory myopathy is disease featuring weakness and inflammation of muscles and (in some types) muscle pain. The cause of much inflammatory myopathy is unknown (idiopathic), and such cases are classified according to their symptoms and signs and electromyography, MRI and laboratory findings.
What is Intracranial epidermoid cyst?
Although predominantly congenital, epidermoid cysts are usually very slow growing and as such take many. Recurrent aseptic meningitis is uncommon but recognized, similar to the less common dermoid cyst. Epidermoid cysts may be congenital (most common, arising from ectodermal inclusion during neural tube closure. Radiographic features. Intracranial epidermoid cysts appear as lobulated lesions that fill and expand CSF spaces.
What is a colloid cyst?
Colloid cysts are found in approximately three individuals per million per year and account for approximately 1% of all intracranial masses. 15 They are the most common intracranial neuroepithelial cysts and most common third ventricular tumour. Most colloid cysts present in the third to fifth decades of life.
What is Intracranial hypertension?
Intracranial hypertension is a condition due to high pressure within the spaces that surround the brain and spinal cord. These spaces are filled with cerebrospinal fluid (CSF), which cushions the brain from mechanical injury, provides nourishment, and carries away waste. The most common symptoms of intracranial hypertension are headaches and visual loss, including blind spots, poor peripheral (side) vision, double vision, and short temporary episodes of blindness.
What does intracranial pressure stand for?
Intracranial pressure (ICP) is the pressure inside the skull and thus in the brain tissue and cerebrospinal fluid (CSF). ICP is measured in millimetres of mercury (mmHg) and, at rest, is normally 7–15 mmHg for a supine adult.
What is isodicentric chromosome 15 syndromes?
Isodicentric chromosome 15 syndromes are a chromosome abnormality that affects many different parts of the body. As the name suggests, people with this condition have an extra chromosome (called an isodicentric chromosome 15) which is made of two pieces of chromosome 15 that are stuck together end-to-end.
What is dup 15 syndrome?
The inv dup(15) or idic(15) syndrome (inverted duplication of proximal chromosome 15 or isodicentric 15 chromosome) displays distinctive clinical findings represented by early central hypotonia, developmental delay and intellectual disability, epilepsy, and autistic behaviour. Isodicentric 15, also called idic(15), partial tetrasomy 15q, or inverted duplication 15 (inv dup 15), is a chromosome abnormality in which a child is born with extra genetic material from chromosome 15. People with idic(15) are typically born with 47 chromosomes in their body cells, instead of the normal 46.
What is Joubert syndrome?
Joubert Syndrome is a condition caused by a malformation of the brain. The condition can be passed from parents to children. In order for the condition to be inherited, parents must possess multiple recessive mutated genes, including CEP290, AHI1 and NPHP1. Not all cases of Joubert Syndrome are attributed to inheritance.
What are the symptoms of Joubert syndrome in children?
Many of the clinical symptoms of Joubert syndrome are apparent in infancy and most affected children have delays in gross motor milestones. The most common features are lack of muscle control (ataxia), abnormal breathing patterns (hyperapnea), sleep apnea, abnormal eye and tongue movements and low muscle tone.
What is Karak syndrome?
Karak syndrome is a neurological degenerative disorder involving excess cerebral iron accumulation. The family who the disease was discovered in their siblings lived in Karak, a town in southern Jordan.
What is Kearns–Sayre syndrome?
The features of Kearns-Sayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms. People with Kearns-Sayre syndrome have progressive external ophthalmoplegia, which is weakness or paralysis of the eye muscles that impairs eye movement and causes drooping eyelids (ptosis).
What is Kinsbourne syndrome?
Kinsbourne syndrome occurs either spontaneously, in association with a neuroblastoma, or following an infectious process. Approximately 50% of cases are linked to an occult neuroblastoma, but the clinical features and the response to therapy are comparable with or without neuroblastoma. A combination of opsoclonus (involuntary conjugate eye movements of large amplitude) and myoclonic jerks. This can be a paraneoplastic syndrome (a result of brain metastasis) or post-infectious (viral encephalitis).
What is Kleine–Levin syndrome?
Kleine–Levin syndrome (KLS) is a rare disorder characterized by persistent episodic hypersomnia and cognitive or mood changes. Many patients also experience hyperphagia, hypersexuality and other symptoms. Patients generally experience recurrent episodes of the condition for more than a decade and may return at a later age.
Can Kleine Levin syndrome be treated?
Treatment. Because of similarities between Kleine-Levin syndrome and certain mood disorders, lithium and carbamazepine may be prescribed and, in some cases, have been shown to prevent further episodes. This disorder should be differentiated from cyclic re-occurrence of sleepiness during the premenstrual period in teen-aged girls.
How long does Kleine Levin syndrome last?
Patients with Kleine–Levin syndrome (KLS) experience recurring episodes of prolonged sleep (hypersomnia). In most cases, patients sleep 15 to 21 hours a day during episodes. Excessive appetite (hyperphagia) and unusual cravings are present in half to two thirds of cases.
What is Klippel Feil syndrome?
Klippel Feil syndrome (KFS) is a congenital, musculoskeletal condition characterized by the fusion of at least two vertebrae of the neck. Common symptoms include a short neck, low hairline at the back of the head, and restricted mobility of the upper spine. This syndrome can cause chronic headaches as well as pain in both the neck and the back.
What is Krabbe disease caused by?
Krabbe disease is caused by mutations in the GALC gene (mapped to chromosome 14q) which encodes glucocerebrosidase, an enzyme that degrades galactosylceramide, a normal constituent of myelin. Krabbe disease (KD) (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare and often fatal lysosomal storage disease that results in progressive damage to the nervous system. KD involves dysfunctional metabolism of sphingolipids and is inherited in an autosomal recessive pattern. The disease is named after the Danish neurologist Knud Krabbe (1885–1965).
What are the symptoms of Krabbe disease in children?
Symptoms of late-onset Krabbe disease in older children and adolescents include: progressive loss of vision leading to blindness. difficulty walking (ataxia) poor hand coordination skills. muscle weakness or rigid muscles.
What is Kufor–Rakeb syndrome?
Kufor-Rakeb syndrome is an autosomal recessive nigro-striatal-pallidal-pyramidal neurodegeneration. The onset is in the teenage years with clinical features of Parkinson’s disease plus spasticity, supranuclear upgaze paresis, and dementia. Brain scans show atrophy of the globus pallidus and pyramids and, later, widespread cerebral atrophy.
What is Kugelberg–Welander disease – (Spinal muscular atrophy)?
Kugelberg-Welander disease (Concept Id: C0152109) Spinal muscular atrophy (SMA) is characterized by progressive muscle weakness resulting from degeneration and loss of the anterior horn cells (i.e., lower motor neurons) in the spinal cord and the brain stem nuclei. Onset ranges from before birth to adolescence or young adulthood.
What is the treatment for Kugelberg Welander syndrome?
Treatment of Kugelberg-Welander syndrome is aimed at alleviating the symptoms. In most cases physical therapy and orthopaedic devices may be prescribed. Ventilation support may be used to assist breathing. An orthopaedic appliance may be used to allow the patient to be upright when scoliosis becomes a major problem.
What is Lafora disease?
Lafora disease is an inherited, severe form of progressive myoclonus epilepsy. The condition most commonly begins with epileptic seizures in late childhood or adolescence. Other signs and symptoms include difficulty walking, muscle spasms (myoclonus) and dementia. Affected people also experience rapid cognitive deterioration that begins around the same time as the seizures. The condition is often fatal within 10 years of onset. Most cases are caused by changes (mutations) in either the EPM2A gene or the NHLRC1 gene and are inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
What are the most common features of Lafora disease?
The most common feature of Lafora disease is seizures that have been reported mainly as occipital seizures and myoclonic seizures with some cases of generalized tonic-clonic seizures, atypical absence seizures, and atonic and complex partial seizures.
What is Lambert–Eaton myasthenic syndrome?
Lambert-Eaton Myasthenic Syndrome (LEMS) What is Lambert-Eaton myasthenic syndrome (LEMS)? Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune disease — a disease in which the immune system attacks the body’s own tissues.
What is Landau–Kleffner syndrome?
Landau–Kleffner syndrome (LKS) —also called infantile acquired aphasia, acquired epileptic aphasia or aphasia with convulsive disorder —is a rare childhood neurological syndrome. It is named after William Landau and Frank Kleffner, who characterized it in 1957 with a diagnosis of six children.
What is Kleffner syndrome?
Landau Kleffner syndrome (LKS) is a childhood disorder characterized by the loss of comprehension and expression of verbal language (aphasia) in association with severely abnormal electro encephalic (EEG) findings that often result in seizures. Landau-Kleffner syndrome (LKS) is a childhood disorder. A major feature of LKS is the gradual or sudden loss of the ability to understand and use spoken language. All children with LKS have abnormal electrical brain waves that can be documented by an electroencephalogram (EEG), a recording of the electric activity of the brain.
What is Lateral medullary (Wallenberg) syndrome?
The lateral medullary syndrome, also known as Wallenberg’s syndrome, is the prototype lesion involving the nuclei of cranial nerves IX and X. The syndrome results from infarction of the medulla by vertebral artery thrombosis or dissection that may also produce occlusion of the opening to the posterior inferior cerebellar artery.
What causes vertigo in the lateral medullary region?
These vertigo spells can result in falling, caused from the involvement of the region of Deiters’ nucleus. Common symptoms with lateral medullary syndrome may include difficulty swallowing, or dysphagia. This can be caused by the involvement of the nucleus ambiguus, as it supplies the vagus and glossopharyngeal nerves.
Can lateral medullary syndrome cause bradycardia?
Lateral medullary syndrome can also cause bradycardia, a slow heart rate, and increases or decreases in the patients average blood pressure.
What is Learning disabilities?
A learning disability is a neurological condition which affects the brain’s ability to send, receive, and process information. A child with a learning disability may have difficulties in reading, writing, speaking, listening, understanding mathematical concepts, and with general comprehension. Learning disabilities include a group of disorders such as dyslexia, dyspraxia, dyscalculia and dysgraphia.
What is leigh syndrome?
Leigh syndrome (also called Leigh disease and subacute necrotizing encephalomyelopathy) is an inherited neurometabolic disorder that affects the central nervous system. It is named after Archibald Denis Leigh, a British neuropsychiatrist who first described the condition in 1951.Leigh syndrome, also known as subacute necrotizing encephalomyelopathy (SNEM), is a mitochondrial disorder with progressive neurodegeneration that invariably leads to death, usually in childhood.
What is Lennox–Gastaut syndrome?
Lennox–Gastaut syndrome (LGS) is a complex, rare, and severe childhood-onset epilepsy. It is characterized by multiple and concurrent seizure types, cognitive dysfunction, and slow spike waves on electroencephalogram (EEG). Typically, it presents in children aged 3–5 years and can persist into adulthood.
What is treatment for Lennox Gastaut syndrome?
Specific medications are used to control the seizures of Lennox-Gastaut syndrome, as many of the usual anti-seizure drugs are not effective. 2 Ketogenic Diet. The ketogenic diet is a high-fat, low-carbohydrate diet that can help control seizures in people who have hard-to-manage epilepsy. 3 Epilepsy surgery is an option for some people with refractory epilepsy (that which does not improve with medication) caused by LGS.
What is Lesch–Nyhan syndrome?
Lesch-Nyhan syndrome, hereditary metabolic disorder affecting the central nervous system and characterized by incoordination, mental retardation, aggressive behaviour, and compulsive biting. Lesch–Nyhan syndrome (LNS), is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This deficiency occurs due to mutations in the HPRT gene located on the X chromosome. LNS affects about 1 in 380,000 live births.
What is Leukodystrophy?
The leukodystrophies are caused by imperfect growth or development of the myelin sheath, the fatty insulating covering around nerve fibers. Leukodystrophies may be classified as hypomyelinating or demyelinating diseases, depending on whether the damage is present before birth or occurs after. Other demyelinating diseases are usually not congenital and have a toxic or autoimmune cause.
What is Leukoencephalopathy with vanishing white matter?
Leukoencephalopathy with vanishing white matter is a progressive disorder that mainly affects the brain and spinal cord (central nervous system). This disorder causes deterioration of the central nervous system’s white matter, which consists of nerve fibers covered by myelin. Myelin is the fatty substance that insulates and protects nerves.
Is vanishing white matter disease autosomal recessive?
There is some evidence that vanishing white matter disease is an autosomal recessive condition, and it is believed that the culprit gene resides on chromosome 3q27 4.
What is Lewy body dementia?
Lewy body dementia (LBD, or Lewy body disorder) is an umbrella term that encompasses two similar dementias, both of which are characterized by abnormal deposits of the protein alpha-synuclein in the brain:
• dementia with Lewy bodies (DLB), and
• Parkinson’s disease dementia (PDD).
Symptoms of Lewy body dementia noted are mainly related to thinking, memory, and movement
Visual hallucinations, Rigid muscles, Bradykinesia (slowed movement), Shuffling walk or shaky legs, Tremors, Inability to balance the body, Poor regulation of body functions such as blood pressure, sweating, digestion, Cognitive problems such as confusion, poor concentration, memory loss and Difficulty sleeping.
What is the meaning of lissencephaly?
Lissencephaly, the literal meaning of which is ‘smooth brain’, is an uncommon, genetically-associated brain mal-development disorder marked by nil folds or convolutions in the cerebral cortex as well as microcephaly, i.e., an unusually small head. Lissencephaly is considered as a type of cephalic disorder.
What is Locked-in syndrome?
Locked-in syndrome (LIS), also known as pseudo coma, is a condition in which a patient is aware but cannot move or communicate verbally due to complete paralysis of nearly all voluntary muscles in the body except for vertical eye movements and blinking.
How is locked-in syndrome diagnosed?
A diagnosis of locked-in syndrome is usually made clinically. A variety of tests may be performed to rule out other conditions. Such tests include magnetic resonance imaging (MRI), which shows the damage to the pons, and magnetic resonance angiography, which can show the blood clot in the arteries of the brainstem.
What is Lou Gehrig’s disease – (Amyotrophic lateral sclerosis)?
Amyotrophic lateral sclerosis (ALS), also known as motor neurone disease (MND) or Lou Gehrig’s disease, is a disease that causes the death of neurons controlling voluntary muscles. Some also use the term motor neuron disease for a group of conditions of which ALS is the most common.
What is Lumbar disc disease?
Lumbar disc disease is the drying out of the spongy interior matrix of an intervertebral disc in the spine. Many physicians and patients use the term lumbar disc disease to encompass several different causes of back pain or sciatica. In this article, the term is used to describe a lumbar herniated disc. It is thought that lumbar disc disease causes about one-third of all back pain.
Pain is often made worse with sitting or bending forward.
Men and women are equally affected.
The symptoms of lumbar disc disease worsen as the degenerative changes in the spine progress from internal disc disruption to degenerative disc disease to segmental instability.
What is Lumbar spinal stenosis?
Spinal stenosis is a narrowing of the spaces within your spine, which can put pressure on the nerves that travel through the spine. Spinal stenosis occurs most often in the lower back and the neck. Some people with spinal stenosis may not have symptoms. Others may experience pain, tingling, numbness and muscle weakness. Symptoms can worsen over time. Spinal stenosis is most commonly caused by wear-and-tear changes in the spine related to osteoarthritis. In severe cases of spinal stenosis, doctors may recommend surgery to create additional space for the spinal cord or nerves. The types of spinal stenosis are classified according to where on the spine the condition occurs. It’s possible to have more than one type. The two main types of spinal stenosis are:
Cervical stenosis. In this condition, the narrowing occurs in the part of the spine in your neck.
Lumbar stenosis. In this condition, the narrowing occurs in the part of the spine in your lower back. It’s the most common form of spinal stenosis.
What neurological problems can lupus erythematosus cause?
In addition to headache, lupus can cause other neurological disorders, such as mild cognitive dysfunction, organic brain syndrome, peripheral neuropathies, sensory neuropathy, psychological problems (including personality changes, paranoia, mania, and schizophrenia), seizures, transverse myelitis, and paralysis and stroke.
What is Lyme disease?
Lyme disease, also known as Lyme borreliosis, is an infectious disease caused by the Borrelia bacterium which is spread by ticks. The most common sign of infection is an expanding red rash, known as erythema migrans, that appears at the site of the tick bite about a week after it occurred. The rash is typically neither itchy nor painful. Approximately 70–80% of infected people develop a rash. Other early symptoms may include fever, headache and tiredness. If untreated, symptoms may include loss of the ability to move one or both sides of the face, joint pains, severe headaches with neck stiffness, or heart palpitations, among others. Months to years later, repeated episodes of joint pain.
What is Machado–Joseph disease?
Machado–Joseph disease (MJD), also known as Machado–Joseph Azorean disease, Machado’s disease, Joseph’s disease or spinocerebellar ataxia type 3 (SCA3), is a rare autosomal dominantly inherited neurodegenerative disease that causes progressive cerebellar ataxia, which results in a lack of muscle control and coordination of the upper and lower extremities.
What is the treatment of Machado Joseph disease?
There is no cure for Machado-Joseph Disease. However, treatments are available for some symptoms. For example, spasticity can be reduced with antispasmodic drugs, such as baclofen. The Parkinsonian symptoms can be treated with levodopa therapy.
What is acute cerebellar ataxia?
The term ‘acute ataxia’ was first used by Leyden in 1891 and cases similar to those reported here have been described as examples of the ‘acute ataxia of Leyden’. In fact, the two cases described by Leyden were similar only with regard to the sudden onset of ataxia, they had in addition parses, with disorders of sensation and showed no tendency to recover after periods up to two years. Acute cerebellar ataxia is probably the most convenient name to denote this syndrome since it is purely descriptive and does not imply any particular aetiology. On the other hand, it may be criticized in that it is equally applicable to cases of cerebellar ataxia coming on suddenly in degenerative diseases of the central nervous system and perhaps the best term is that used by the French workers. The condition of acute cerebellar ataxia is described. It is characterized by the dramatic suddenness of its onset in a previously well child. There is ataxia, tremor and frequently nystagmus, muscle tone is diminished although the reflexes are usually brisk. The child is afebrile and is free from headache or meningism. Sensation is unaffected.
What is Macrencephaly?
Megalencephaly (or macrencephaly; abbreviated MEG) is a growth development disorder in which the brain is abnormally large. It is characterized by a brain with an average weight that is 2.5 standard deviations above the mean of the general population.
What is Macropsia?
Macropsia is a neurological condition affecting human visual perception, in which objects within an affected section of the visual field appear larger than normal, causing the person to feel smaller than they actually are. Macropsia, along with its opposite condition, micropsia, can be categorized under dysmetropsia. Other names are Megalopia.
What is Mal de debarquement?
Mal de debarquement syndrome (MdDS) is a one-of-its-kind illness characterized by unsteadiness without dizziness, which can persist for months or sometimes even years. The term Mal de Débarquement in French stands for “sickness of disembarkment”.
Can mal debarquement syndrome go away?
Symptoms may or may not go away with time; however, they may reoccur following another motion experience or during periods of stress or illness. Although there is no known cure for mal de debarquement syndrome, there is evidence that some patients have responded positively to antidepressants or anti-seizure medications.
What is Megalencephalic leukoencephalopathy with subcortical cysts?
Megalencephalic leukoencephalopathy with subcortical cysts, also known as Van der Knaap disease, refers to a rare inherited autosomal recessive disease characterized by diffuse subcortical leukoencephalopathy associated with white matter cystic degeneration.
What is Megalencephaly?
Megalencephaly (or macrencephaly; abbreviated MEG) is a growth development disorder in which the brain is abnormally large. It is characterized by a brain with an average weight that is 2.5 standard deviations above the mean of the general population. Megalencephaly is usually diagnosed at birth and is confirmed with an MRI
What is Melkersson–Rosenthal syndrome?
Melkersson–Rosenthal syndrome is a rare neurological disorder characterized by recurring facial paralysis, swelling of the face and lips (usually the upper lip: cheilitis granulomatosis) and the development of folds and furrows in the tongue (fissured tongue). Onset is in childhood or early adolescence.
What is Meniere’s disease?
Meniere’s disease (MD) is a disorder of the inner ear that is characterized by episodes of feeling like the world is spinning (vertigo), ringing in the ears (tinnitus), hearing loss, and a fullness in the ear. Typically, only one ear is affected initially; however, over time both ears may become involved.
What is Meningitis?
Meningitis is an inflammation of the membranes (meninges) surrounding your brain and spinal cord. The swelling from meningitis typically triggers symptoms such as headache, fever and a stiff neck. Most cases of meningitis in the United States are caused by a viral infection, but bacterial, parasitic and fungal infections are other causes. Some cases of meningitis improve without treatment in a few weeks.
What are the symptoms of Menkes disease in infants?
Common symptoms of Menkes disease in infants are: Brittle, kinky, steely, sparse, or tangled hair. Pudgy, rosy cheeks, sagging facial skin. Feeding difficulties.
What is metachromatic leukodystrophy (MLD)?
Metachromatic leukodystrophy (MLD) is a lysosomal storage disease which is commonly listed in the family of leukodystrophies as well as among the sphingolipidoses as it affects the metabolism of sphingolipids. Metachromatic leukodystrophy leads to progressive damage of the cells in the central and peripheral nervous system, leading to muscle weakness, and other symptoms which are problems in nerve function, Numbness in some parts of the body, Irritability, Decreased mental function, Loss of muscle control, Diminished muscle tone, Disturbance in the gait, Difficulty in speaking and swallowing, Frequent falls, Incontinences, Disturbed vision, Microcephaly, Micropsia and Migraine.
What is Miller Fisher syndrome?
Overview Miller Fisher syndrome (MFS) is a subgroup of a more common — yet still rare — nerve disorder known as Guillain-Barré syndrome (GBS). While GBS affects just 1 person in 100,000, MFS is even more uncommon. It makes up just 1 to 5 percent of Guillain-Barré cases in the Western world. Miller Fisher syndrome is a rare, acquired nerve disease that is considered to be a variant of Guillain-Barré syndrome. It is characterized by abnormal muscle coordination, paralysis of the eye muscles, and absence of the tendon reflexes. Like Guillain-Barré syndrome, symptoms may be preceded by a viral illness.
Is Miller Fisher syndrome fatal?
Although most cases of Miller Fisher syndrome have a good prognosis, occasional cases with permanent neurological disability are encountered. Fatal progression has also been described, but is uncommon (<5%)
What is Mini-stroke (transient ischemic attack)?
A transient ischemic attack (TIA) is like a stroke in that it produces similar symptoms, but it only lasts a few minutes and causes no permanent damage. It is sometimes called a mini-stroke.
It happens when there is not enough oxygen reaching the brain. This is often due to a blood clot that remains for a short while.
When the clot breaks up or moves on, symptoms subside.
The American Stroke Association (ASA) urges people not to ignore a TIA, as it can be a warning of a future, full-blown stroke.
What is Misophonia?
Misophonia, meaning “hatred of sound”, was proposed in 2000 as a condition in which negative emotions, thoughts, and physical reactions are triggered by specific sounds. Misophonia is not classified as an auditory or psychiatric condition, and so is different from phonophobia (fear of sound); there are no standard diagnostic criteria, and there is little research on how common it is or the treatment.
What are the triggers of misophonia?
Triggering sounds vary among people with misophonia and may change over time. The most common triggers are those that come from other people’s mouths. This includes: chomping. slurping. swallowing. throat clearing. lip smacking.
What do you really know about misophonia?
Misophonia is a disorder in which certain sounds trigger emotional or physiological responses that some might perceive as unreasonable given the circumstance. Those who have misophonia might describe it as when a sound “drives you crazy.” Their reactions can range from anger and annoyance to panic and the need to flee.
What is Mitochondrial myopathy?
Mitochondrial myopathies are types of myopathies associated with mitochondrial disease. On biopsy, the muscle tissue of patients with these diseases usually demonstrate “ragged red” muscle fibers. These ragged-red fibers contain mild accumulations of glycogen and neutral lipids, and may show an increased reactivity for succinate dehydrogenase and a decreased reactivity for cytochrome c oxidase. Mitochondrial diseases that causes prominent muscular problems are called mitochondrial myopathies (myo means muscle and pathos means disease), while mitochondrial diseases that causes both prominent muscular and neurological problems are called mitochondrial encephalomyopathies
What are the symptoms of mitochondrial disease?
Some common mitochondrial disease symptoms and signs include:
loss of motor control, balance and coordination.
trouble walking or talking.
muscle aches, weakness and pains.
digestive problems and gastrointestinal disorders.
What are the examples of mitochondrial diseases?
Diabetes mellitus and deafness (DAD)
this combination at an early age can be due to mitochondrial disease
Diabetes mellitus and deafness can be found together for other reasons
Leber’s hereditary optic neuropathy (LHON)
visual loss beginning in young adulthood
eye disorder characterized by progressive loss of central vision due to degeneration of the optic nerves and retina
affects 1 in 50,000 people in Finland
Leigh syndrome, subacute sclerosing encephalopathy
after normal development the disease usually begins late in the first year of life, although onset may occur in adulthood
a rapid decline in function occurs and is marked by seizures, altered states of consciousness, dementia, ventilatory failure
Neuropathy, ataxia, retinitis pigmentosa, and ptosis (NARP)
progressive symptoms as described in the acronym
Conditions such as Friedreich’s ataxia can affect the mitochondria but are not associated with mitochondrial proteins.
What is Myoneurogenic gastrointestinal encephalopathy (MNGIE)?
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) syndrome is a condition that mainly affects the digestive system and nervous system. Signs and symptoms most often begin by age 20 and worsen with time.
What are the symptoms of MNGIE?
Additionally, gastrointestinal symptoms such as borborygmi, early satiety, diarrhoea, constipation, gastroparesis, nausea, vomiting, weight loss, and diverticulitis may be present in MNGIE patients. Neurological symptoms may include diffuse leukoencephalopathy, peripheral neuropathy, and myopathy.
What is mitochondrial neurogastrointestinal encephalopathy?
A variety of mutations in the TYMP gene have been discovered that lead to the onset of mitochondrial neurogastrointestinal encephalopathy syndrome. The TYMP gene is a nuclear gene, however, mutations in the TYMP gene affect mitochondrial DNA and function.
What is Neuropathy?
A group of diseases resulting from damaged or malfunctioning of nerves.
What are the different types of neuropathy?
There are four types of diabetic neuropathy:
Peripheral neuropathy (also called diabetic nerve pain and distal polyneuropathy).
Peripheral neuropathy, a result of damage to the nerves outside of the brain and spinal cord (peripheral nerves), often causes weakness, numbness and pain, usually in your hands and feet. It can also affect other areas of your body.
What drugs cause neuropathy?
Some of the drugs that may cause peripheral neuropathy include:
Anti-alcohol drugs (Disulfiram).
Cancer medications (Cisplatin).
Heart or blood pressure medications (Amiodarone).
Proximal neuropathy (also called diabetic amyotrophy).
Focal neuropathy (also called mononeuropathy).
What are the common causes of neuropathy?
What Are the Common Causes of Neuropathy?
Idiopathic peripheral neuropathy – when there is no specific cause found for peripheral neuropathy.
Diabetes – the most common cause of chronic peripheral neuropathy.
B12 or folate vitamin deficiencies can cause nerve damage and peripheral neuropathy.
What is Myoclonic Epilepsy with Ragged Red Fibers (MERRF)?
Myoclonic epilepsy with ragged red fibers (MERRF) is a multisystem disorder characterized by myoclonus, which is often the first symptom, followed by generalized epilepsy, ataxia, weakness, and dementia. Symptoms usually first appear in childhood or adolescence after normal early development. Myoclonic epilepsy with ragged red fibers. Myoclonic epilepsy with ragged red fibers (MERRF) is a multisystem disorder characterized by myoclonus, which is often the first symptom, followed by generalized epilepsy, ataxia, weakness, and dementia. Symptoms. Because muscle cells and nerve cells have especially high energy needs, muscular and neurological problems are common features of diseases that affect the mitochondria. Cause. Myoclonic epilepsy with ragged red fibers (MERRF) is caused by mutations in the mitochondrial DNA. It is extremely rare, and has varying degrees of expressivity owing to heteroplasmy. MERRF syndrome affects different parts of the body, particularly the muscles and nervous system. The signs and symptoms of this disorder appear at an early age, generally childhood or adolescence.
“Ragged Red Fibers” are clumps of diseased mitochondria that accumulate in the subsarcolemmal region of the muscle fibre and appear when muscle is stained with modified Gömöri trichrome stain
What is progressive myoclonic epilepsy?
Progressive myoclonus epilepsies are classically defined as progressive disorders presenting primarily with the association of epileptic generalized tonic-clonic seizures and multifocal, segmental, often intention, sometimes massive myoclonic jerks, with dementia being a less constant component.
What is short stature?
In a medical context, short stature is typically defined as an adult height that is more than two standard deviations below the mean for age and gender, which corresponds to the shortest 2.3% of individuals. In developed countries, this typically includes adult men who are shorter than 158 centimetres (5 ft 2 in) tall and adult women who are shorter than 149 centimetres (4 ft 11 in) tall. Conditions that can underlie short stature include: undernutrition, due to a disease or lack of nutrients, hypothyroidism, leading to a lack of growth hormone, a tumour in the pituitary gland, hearing loss, lactic acidosis, exercise intolerance
What is MELAS syndrome?
MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes) syndrome is a rare disorder that begins in childhood, usually between two and fifteen years of age, and mostly affects the nervous system and muscles. The most common early symptoms are seizures, recurrent headaches, etc.
What is Mitochondrial DNA depletion syndrome?
Mitochondrial DNA (mtDNA) depletion syndrome is a recently recognized disorder involving a quantitative defect of mtDNA. It presents in infancy with hepatorenal failure, myopathy, hypotonia, hypoglycemia, and lactic acidosis.
What is Mobius syndrome?
People with Möbius syndrome are born with facial paralysis and the inability to move their eyes laterally. Often, their upper lip is retracted due to muscle shrinkage. Occasionally, the cranial nerves V and VIII are affected. If cranial nerve VIII is affected, the person experiences hearing loss.
Other symptoms that sometimes occur with Möbius syndrome are: Limb abnormalities—clubbed feet, missing fingers or toes
What is Monomelic amyotrophy?
Monomelic amyotrophy (MMA), is a rare motor neuron disease first described in 1959 in Japan. Its symptoms usually appear about two years after adolescent growth spurt and is significantly more common in males (average age of onset, 15- to 25-year-old). MMA is reported most frequently in Asia but has a global distribution.
What is Morvan syndrome?
Morvan’s syndrome, is a rare autoimmune disease named after the nineteenth century French physician Augustin Marie Morvan.
What are the symptoms of Morvan syndrome?
The symptoms of Morvan’s Syndrome have been noted to bear a striking similarity to limbic encephalitis (LE). These include the CNS symptoms consisting of insomnia, hallucinations, and disorientation, as well as dementia and psychosis.
What is Motor neurone disease – Amyotrophic lateral sclerosis?
Amyotrophic lateral sclerosis (ALS), also known as motor neurone disease (MND) or Lou Gehrig’s disease, is a specific disease that causes the death of neurons controlling voluntary muscles. Some also use the term motor neuron disease for a group of conditions of which ALS is the most common.
What is Motor skills disorder?
Motor skills disorder, also called motor coordination disorder or motor dyspraxia, is a childhood disorder that causes problems with the development of motor skills needed for daily or school activities. Symptoms of motor skills disorder vary depending on the age of the child when diagnosed.
What is Moya Moya disease?
Moya Moya disease is a disease in which certain arteries in the brain are constricted. Blood flow is blocked by constriction and blood clots (thrombosis). A collateral circulation develops around the blocked vessels to compensate for the blockage, but the collateral vessels are small, weak, and prone to bleeding, aneurysm and thrombosis.
What is Mucopolysaccharidoses?
Mucopolysaccharidosis (MPS) is a general term for a number of inherited diseases that are caused by the accumulation of mucopolysaccharides, resulting in problems with an individual’s development. With each condition, mucopolysaccharides accumulate in the cells and tissues of the body because of a deficiency of a specific enzyme.
What is Multifocal motor neuropathy?
Multifocal motor neuropathy (MMN) is a progressively worsening condition where muscles in the extremities gradually weaken. The disorder, a pure motor neuropathy syndrome, is sometimes mistaken for amyotrophic lateral sclerosis (ALS) because of the similarity in the clinical picture, especially if muscle fasciculations are present. Unlike ALS which affects both upper and lower motor neuron pathways, MMN involves only the lower motor neuron pathway and specifically, the peripheral nerves emanating from the lower motor neurons. Definitive diagnosis is often difficult, and many MMN patients labour for months or years under an ALS diagnosis before finally getting a determination of MMN. Signs and symptoms may include weakness in the hands and lower arms; cramping; involuntary contractions.
What is Multi-infarct dementia?
Multi-infarct dementia (MID) is a common cause of memory loss in the elderly. MID is caused by multiple strokes (disruption of blood flow to the brain).
What is Multiple sclerosis?
a chronic, typically progressive disease involving damage to the sheaths of nerve cells in the brain and spinal cord, whose symptoms may include numbness, impairment of speech and of muscular coordination, blurred vision, and severe fatigue.
What is Multiple system atrophy?
Multiple system atrophy (MSA) is a rare, degenerative neurological disorder affecting your body’s involuntary (autonomic) functions, including blood pressure, breathing, bladder function and motor control.
What is Muscular dystrophy?
Muscular dystrophy (MD) is a group of muscle diseases that results in increasing weakening and breakdown of skeletal muscles over time. The disorders differ in which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin.
What is Myalgic encephalomyelitis?
Chronic fatigue syndrome (CFS), also referred to as myalgic encephalomyelitis (ME), is a complex, fatiguing, long-term medical condition that causes worsening symptoms after physical or mental activity, a greatly lowered functional ability to complete routine daily activities compared to prior onset of the disease, and unrefreshing sleep.
What is Myasthenia gravis?
Myasthenia gravis (MG) is a long-term neuromuscular disease that leads to varying degrees of skeletal muscle weakness. The most commonly affected muscles are those of the eyes, face, and swallowing. It can result in double vision, drooping eyelids, trouble talking, and trouble walking.
What is Myelinoclastic diffuse sclerosis?
Diffuse myelinoclastic sclerosis, sometimes referred to as Schilder’s disease, is a very infrequent neurodegenerative disease that presents clinically as pseudotumoural demyelinating lesions, making its diagnosis difficult. It usually begins in childhood, affecting children between 5 and 14 years old, but cases in adults are also possible.
What is Myoclonic Encephalopathy of infants?
Early Myoclonic Encephalopathy (EME) Boys and girls are equally affected. Typically, new-borns or infants will have myoclonic seizures, focal motor seizures, or rarely tonic spasms that do not respond to anti-seizure medication. Many cases are caused by a metabolic disorder, genetic mutations, or rarely brain malformation.
What is Myoclonus?
Myoclonus is a brief, involuntary, irregular (lacking rhythm) twitching (different from clonus, which is rhythmic/ regular) of a muscle or a group of muscles. It describes a medical sign and, generally, is not a diagnosis of a disease.
What is Myopathy?
Myopathy is a disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness. Myopathy means muscle disease. This meaning implies that the primary defect is within the muscle, as opposed to the nerves (“neuropathies” or “neurogenic” disorders) or elsewhere (e.g., the brain).
What is Myotonia congenita?
Myotonia congenita is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally.
What is Myotubular myopathy?
First described in 1966, myotubular myopathy is a slowly progressive, but rarely fatal, disease of voluntary muscle. The name myotubular myopathy comes from the appearance of affected muscle fibers that resemble myotubes, a type of fiber normally found only during fetal development.
What is narcolepsy?
Narcolepsy is a neurological (nervous system) disorder that affects the brain’s ability to control sleep and wakefulness. Children with narcolepsy experience excessive sleepiness, which impacts all aspects of their life, including social activities and school performance.
Children with narcolepsy experience:
Constant excessive daytime sleepiness.
Ongoing struggles to stay awake.
Sudden sleep episodes (“sleep attacks”) that occur during any type of activity and at any time of the day.
Who gets narcolepsy?
Narcolepsy is underdiagnosed and misdiagnosed in children, making it difficult to determine how many children have the disorder. However, one estimate is that narcolepsy occurs in slightly less than one in every 100,000 children. The symptoms of narcolepsy have been reported in children as young as five or six, but it is often not diagnosed until adolescence or later. Narcolepsy affects an equal number of boys and girls.
Are there different types of narcolepsy?
There are two types of narcolepsy:
Narcolepsy Type 1 (previously called narcolepsy with cataplexy [see symptoms section for definition]). Persons with narcolepsy type 1 have excessive daytime sleepiness plus cataplexy and/or low levels of a chemical in the brain called hypocretin. One unique feature of this type of narcolepsy in children is that those who have it tend to experience rapid weight gain.
Narcolepsy Type 2 (previously called narcolepsy without cataplexy). Persons with narcolepsy type 2 have excessive daytime sleepiness but do not have cataplexy and have normal levels of hypocretin.
What causes narcolepsy?
Narcolepsy is thought to be related to a disruption in an area of the brain that controls sleep and wakefulness. In many cases, it is thought to be due to a loss of a particular chemical in the brain called hypocretin.
Other possible factors scientists think play a role in narcolepsy include:
An autoimmune disorder: A person’s immune system attacks the brain cells that produce hypocretin, resulting in a shortage of this chemical.
Family history: Some persons with narcolepsy have close relatives with similar symptoms.
Brain injury or tumor: In a small number of patients, the area of brain that controls REM sleep and wakefulness can be injured by trauma, tumor or disease.
Environmental toxins: Pesticides, heavy metals and second-hand smoke.
What are the signs and symptoms of narcolepsy?
Symptoms of narcolepsy vary during a person’s lifetime. Not all of the following symptoms are present at the start of the disorder or in every single child. The four most common symptoms/signs of narcolepsy are as follows:
Excessive daytime sleepiness (EDS): This is usually the first sign of narcolepsy in children and occurs in all patients. EDS interferes with normal activities (work, school, home life, social activities) every day. Children have frequent bouts of extreme tiredness, most often during inactive times, such as when sitting in the classroom, reading, or riding in a vehicle. Sleep attacks in young children are nearly constant and they last longer than those experienced in adolescents or adults. In preschool children, afternoon naps can last up to two to three hours, but tiredness returns within one to two hours. One unique sign of narcolepsy in children is consistent napping after the age of five or six. Children with EDS report mental cloudiness, forgetfulness, lack of energy, decreased attention and concentration, and poor school performance. Behavioural issues include irritability, aggressiveness, hyperactivity, social withdrawal and depression.
Cataplexy: Cataplexy is a sudden, brief loss of muscle tone or strength triggered by stress or a strong emotion, such as laughter (common cause in children), excitement, anger, anxiety or surprise. Cataplexy may be mild, like a brief feeling of weakness in the knees or slackness in the jaw or drooping of the eyelids, to total body paralysis with collapse. Additional features unique to children include facial and/or jaw and eyelid weakness and sticking out of the tongue, plus slurred speech, other abnormal facial movements and expressions. Cataplexy usually lasts a few seconds to several minutes. Cataplexy is seen in about 70% of children with narcolepsy. In young children, cataplexy can be mistaken for clumsiness, seizures, a fainting spell or as an attention-seeking behavior.
Sleep paralysis: This symptom is the inability to move or speak just before falling asleep or just after waking up. Episodes of sleep paralysis usually go away after a few seconds to a few minutes. Being touched by another person usually causes the paralysis to disappear.
Hallucinations: These are vivid, dream-like/nightmare events that are difficult to distinguish from reality. They occur just before falling asleep (called hypnagogic hallucinations) or just after awakening (called hypnopompic hallucinations). The “dreams” often involve images or sounds of strange animals or prowlers. The content is generally scary. Many times, hallucinations appear in combination with sleep paralysis episodes and are part of the dream (REM) intrusion into wakefulness that occurs with narcolepsy.
Other symptoms of narcolepsy can include:
Disturbed sleep through the night: This is difficulty sleeping through the night because of frequent awakenings.
Automatic behaviours: This symptom is described as falling asleep for several seconds but continuing to perform routine tasks, such as writing, without any awareness or later memory of ever doing the task.
Sudden weight gain: This is another symptom or warning sign of narcolepsy in children. It is seen most commonly early in the course of the disorder. Obesity is present in at least 25% of children with narcolepsy.
Persistent neurological disease that includes a diminished capacity to control sleep wake cycles.
Manage cataplexy with tricyclic antidepressants.
Try sodium oxybate. Another medication that is highly effective for cataplexy is sodium oxybate, …
What is Neuro-Behçet’s disease?
Neuro-Behcet’s disease, or NBD, is a subset of Behcet’s autoimmune disease with neurological involvement. Behcet’s disease, which is how some patients and professionals shorten neuro-Behcet’s, is a rare disease resulting in blood vessel inflammation throughout the body.
What is von Recklinghausen’s disease (Neurofibromatosis)?
Von Recklinghausen’s disease (VRD) is a genetic disorder characterized by the growth of tumors on the nerves. The disease can also affect the skin and cause bone deformities.
What is Neuroleptic malignant syndrome?
Neuroleptic malignant syndrome (NMS) is a life-threatening reaction that can occur in response to neuroleptic or antipsychotic medication. Symptoms include high fever, confusion, rigid muscles, variable blood pressure, sweating, and fast heart rate.
What is Neuromyotonia(NMT)?
NMT is a diverse disorder. As a result of muscular hyperactivity, patients may present with muscle cramps, stiffness, myotonia-like symptoms (slow relaxation), associated walking difficulties, hyperhidrosis (excessive sweating), myokymia (quivering of a muscle), fasciculations (muscle twitching), fatigue, exercise intolerance, myoclonic jerks and other related symptoms.
What is Neuronal ceroid lipofuscinosis?
Neuronal ceroid lipofuscinosis is the general name for a family of at least eight genetically separate neurodegenerative lysosomal storage diseases that result from excessive accumulation of lipopigments (lipofuscin) in the body’s tissues. These lipopigments are made up of fats and proteins.
What is Neuronal migration disorders?
Neuronal migration disorders are structural malformations resulting from early developmental disturbances or genetic defects in the process of migration of new neurons to their final region. Neuronal migration disorders cause severe syndromes, including refractory epilepsy and major psychomotor development disorders.
What is Neuropathy?
Neuropathy is a term that refers to general diseases or malfunctions of the nerves. Nerves at any location in the body can be damaged from injury or disease.
What is an ion channel?
Ion channels, formed from membrane-spanning proteins, allow the selective and rapid flux of ions across cell membranes. Channels respond to (are gated by) specific stimuli, such as changes in the transmembrane voltage gradient (voltage-gated channels), chemical agonists (ligand-gated channels), or mechanical stretch or pressure.
What are ion channelopathies?
Ion channelopathies, or disorders in which the clinical presentation results primarily from ion channel dysfunction, frequently present with brief exacerbations or episodes of clinical symptoms. In such disorders (e.g., periodic paralysis), interictal function is typically normal, and attacks are often triggered by specific factors (e.g., exercise, temperature changes, startle responses, and drugs). Therapies, in addition to symptom management and treatment of underlying causes of the ion-channel abnormality (e.g., autoimmunity), have been directed at identification and avoidance of triggering factors as well as use of drugs that ameliorate the specific ion-channel dysfunction observed at the molecular level.
In which disorders abnormalities of potassium channel function been suggested to play a critical role?
Ataxia-myokymia syndrome (EA-1), presenting as dominantly inherited myokymia and episodic ataxia, has been associated with mutations for a K+ channel expressed in brain and peripheral nerve. 1. Two of the dominantly inherited long Q-T syndromes (LQT1 and LQT2), which may present as syncopal seizures as well as syncope and sudden cardiac death, are associated with mutations in genes encoding K+ channels.
- Recently, syndromes of dominantly inherited benign familial neonatal convulsions, which may be associated with an increased risk of adult epilepsy, have been linked to mutations, which encode K+ channels expressed in the brain.
- Some cases of Isaacs’ syndrome, which presents as acquired neuromyotonia, have been suggested to result from an antibody-mediated autoimmune attack on K+ channels in motor nerves.
- Some snake toxins (e.g., dendrotoxin from the African green mamba) exhibit potent K+ channel–blocking activity. Lambert-Eaton myasthenic syndrome: autoimmune attack on voltage-gated Ca2+ channel at motoneuron terminals Hypokalemic periodic muscle paralysis: mutation in gene coding for the skeletal voltage-gated Ca2+ channel Familial hemiplegic migraine and episodic ataxia type 2: mutation in gene coding for Ca2+ channel in brain.
What is the definition of neurosis?
It is a mental and emotional disorder that affects only part of the personality, is accompanied by a less distorted perception of reality than in a psychosis, does not result in disturbance of the use of language, and is accompanied by various physical, physiological, and mental disturbances (such as visceral symptoms, anxieties, or phobias)
What is Niemann–Pick disease?
Niemann-Pick is a rare, inherited disease that affects the body’s ability to metabolize fat (cholesterol and lipids) within cells. These cells malfunction and, over time, die. Niemann-Pick disease can affect the brain, nerves, liver, spleen, bone marrow and, in severe cases, lungs. People with this condition experience symptoms related to progressive loss of function of nerves, the brain and other organs. Niemann-Pick can occur at any age but mainly affects children.
What is non 24 sleep wake disorder?
Non-24-hour sleep-wake disorder (N24) is a circadian rhythm sleep disorder in which an individual’s biological clock fails to synchronize to a 24-hour day.
What is Nonverbal learning disorder?
Non-Verbal learning Disabilities or Disorder (NLD) refers to the condition where individuals possess high verbal ability but face problems with the Social side and always have a verbal-spatial weakness as well. This problem is far un-diagnosed one as most public school have the reading abilities as the first indicator for performance.
What is Occipital Neuralgia?
Occipital neuralgia is a distinct type of headache characterized by piercing, throbbing, or electric-shock-like chronic pain in the upper neck, back of the head, and behind the ears, usually on one side of the head. Typically, the pain of occipital neuralgia begins in the neck and then spreads upwards.
What is Occult spinal dysraphism sequence?
Tethered cord syndrome (TCS) refers to a group of neurological disorders that relate to malformations of the spinal cord. Various forms include tight filum terminale, lipomeningomyelocele, split cord malformations (diastematomyelia), dermal sinus tracts, and dermoids.
What is the definition of Ohtahara syndrome?
Ohtahara syndrome (also known as early infantile epileptic encephalopathy, EIEE) is a syndrome characterized by frequent intractable seizures and severe early encephalopathy resulting in limited development and reduced life expectancy. Ohtahara syndrome (OS), also known as early infantile epileptic encephalopathy with burst-suppression (EIEE), is a progressive epileptic encephalopathy. The syndrome is outwardly characterized by tonic spasms and partial seizures, and receives its more elaborate name from the pattern of burst activity on an electroencephalogram (EEG).
What is Olivopontocerebellar atrophy?
Olivopontocerebellar atrophy (OPCA) is the degeneration of neurons in specific areas of the brain – the cerebellum, pons, and inferior olivary nucleus. OPCA is present in several neurodegenerative syndromes, including inherited and non-inherited forms of ataxia (such as the hereditary spinocerebellar ataxia known as Machado–Joseph disease) and multiple system atrophy (MSA), with which it is primarily associated.
What is Opsoclonus myoclonus syndrome?
Opsoclonus myoclonus syndrome (OMS), also known as opsoclonus-myoclonus-ataxia (OMA), is a rare neurological disorder of unknown cause which appears to be the result of an autoimmune process involving the nervous system. It is an extremely rare condition, affecting as few as 1 in 10,000,000 people per year. It affects 2 to 3% of children with neuroblastoma and has been reported to occur with celiac disease and diseases of neurologic and autonomic dysfunction. Symptoms include: opsoclonus (rapid, involuntary, multivectorial (horizontal and vertical), unpredictable, conjugate fast eye movements without intersaccadic [quick rotation of the eyes] intervals) myoclonus (brief, involuntary twitching of a muscle or a group of muscles)
What is Optic neuritis?
Optic neuritis is an inflammation that damages the optic nerve, a bundle of nerve fibers that transmits visual information from your eye to your brain. Pain and temporary vision loss in one eye are common symptoms of optic neuritis. Optic neuritis is linked to multiple sclerosis (MS), a disease that causes inflammation and damage to nerves in your brain and spinal cord. Signs and symptoms of optic neuritis can be the first indication of multiple sclerosis, or they can occur later in the course..
What is Orthostatic hypotension?
Orthostatic hypotension — also called postural hypotension — is a form of low blood pressure that happens when you stand up from sitting or lying down. Orthostatic hypotension can make you feel dizzy or lightheaded, and maybe even faint. Orthostatic hypotension may be mild and last for less than a few minutes.
What is O’Sullivan–McLeod syndrome?
O’ Sullivan McLeod syndrome is a benign lower motor neuron disorder and a rare variant of monomelic amyotrophy (MA; see this term), characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression.
What is the prognosis of McLeod?
The prognosis for a normal life span is often good in some patients with mild neurological or cardiac sequelae. McLeod syndrome is present in 0.5 to 1 per 100,000 of the population. McLeod males have variable acanthocytosis due to a defect in the inner leaflet bilayer of the red blood cell, as well as mild haemolysis.
What is Otosclerosis?
Otosclerosis is a condition where one or more foci of irregularly laid spongy bone replace part of normally dense enchondral layer of bony otic capsule in the bony labyrinth. This condition affects one of the ossicles (the stapes) resulting in hearing loss, tinnitus, vertigo or a combination of symptoms. The term otosclerosis is something of a misnomer. Much of the clinical course is characterized by lucent rather than sclerotic bony changes, so the disease is also known as otospongiosis.
How is Otosclerosis treated?
Treatments for otosclerosis. Otosclerosis can usually be treated successfully with either a hearing aid or surgery. If your hearing loss is very mild, you may not need any treatment at first. A hearing aid is an electronic device that increases the volume of sound entering your ear so you can hear things more clearly. Otosclerosis may slowly get worse. The condition may not need to be treated until you have more serious hearing problems. Using some medicines such as fluoride, calcium, or vitamin D may help to slow the hearing loss. Surgical operations are widely performed, and it is a relatively simple procedure. Either the part of the stapes with the abnormal bone growth is removed in order to insert a tiny implant (stapedotomy), or the entire stapes bone is replaced by a small prosthesis (stapedectomy). Both surgeries can restore hearing. In many of the cases the symptoms of vertigo and tinnitus will also disappear.
What are the symptoms of overuse syndrome?
Common symptoms of overuse injuries. Occupational overuse syndrome is usually associated with repetitive hand movements such as typing, but any part of the body can be affected. OOS can affect the tendons and muscles of the fingers, hands, wrists, elbows, shoulders, back and neck.
What is Palinopsia?
Palinopsia is the persistent recurrence of a visual image after the stimulus has been removed. Palinopsia is not a diagnosis, it is a diverse group of pathological visual symptoms with a wide variety of causes.
What are the causes of palinopsia?
They include: Toxicity: Illicit hallucinogens: Mescaline, LSD, ecstasy Prescription drugs: clomiphene, interlukin-2, trazodone Metabolic conditions: Non-ketotic hyperglycaemia Psychiatric conditions Schizophrenia Psychotic depression Structural cerebral lesions
What is PANDAS?
The term PANDAS is used as an acronym for Paediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections. PANDAS Syndrome is clinically diagnosed after a person develops a variety of physical and behavioral manifestations following a scarlet fever or strep throat infection. Symptoms of PANDAS or PANS include-Sudden onset of OCD symptoms. Handwriting becomes unrecognizable. Drawings look like scribbles. Trouble eating. Wetting the bed.
What is Pan disease?
Polyarteritis nodosa (PAN).
Polyarteritis nodosa is an autoimmune disease that affects arteries.
Common areas affected include the muscles, joints, intestines (bowels), nerves, kidneys, and skin.
Diagnosis of polyarteritis nodosa is confirmed by a biopsy of involved tissue or angiography.
Treatment is directed toward decreasing the inflammation of the arteries.
What is Pantothenate kinase-associated neurodegeneration?
Pantothenate kinase-associated neurodegeneration (PKAN), formerly called Hallervorden–Spatz syndrome, is a genetic degenerative disease of the brain that can lead to parkinsonism, dystonia, dementia, and ultimately death. Neurodegeneration in PKAN is accompanied by an excess of iron that progressively builds up in the brain.
What is Paramyotonia congenita?
Paramyotonia congenita (PC), is a rare congenital autosomal dominant neuromuscular disorder characterized by “paradoxical” myotonia. This type of myotonia has been termed paradoxical because it becomes worse with exercise whereas classical myotonia, as seen in myotonia congenita, is alleviated by exercise.
What is Paresthesia?
Paresthesia is an abnormal sensation of the skin (tingling, pricking, chilling, burning, numbness) with no apparent physical cause. Paresthesia may be transient or chronic, and may have any of dozens of possible underlying causes. Paresthesias are usually painless and can occur anywhere on the body, but most commonly occur in the arms and legs.
What is Parkinson’s disease?
Parkinson’s disease (PD), or simply Parkinson’s, is a long-term degenerative disorder of the central nervous system that mainly affects the motor system. As the disease worsens, non-motor symptoms become more common.
What is Paraneoplastic diseases?
Paraneoplastic syndromes are a group of rare disorders that are triggered by an abnormal immune system response to a cancerous tumor known as a “neoplasm.”. Paraneoplastic syndromes are thought to happen when cancer-fighting antibodies or white blood cells (known as T cells) mistakenly attack normal cells in the nervous system. Examples of paraneoplastic syndromes of the nervous system include:
Limbic encephalitis. …
Stiff person syndrome. …
Lambert-Eaton myasthenic syndrome. …
Myasthenia gravis. …
Peripheral neuropathy. …
What is Paroxysmal attacks?
Paroxysmal attacks or paroxysms are a sudden recurrence or intensification of symptoms, such as a spasm or seizure. These short, frequent symptoms can be observed in various clinical conditions.
What is Parry–Romberg syndrome?
Parry–Romberg syndrome (PRS) is a rare disease characterized by progressive shrinkage and degeneration of the tissues beneath the skin, usually on only one side of the face (hemifacial atrophy) but occasionally extending to other parts of the body.
What is Pelizaeus–Merzbacher disease?
Pelizaeus–Merzbacher disease is an X-linked neurological disorder that damages oligodendrocytes in the central nervous system. It is caused by mutations in proteolipid protein 1 (PLP1), a major myelin protein. It is characterized by hypomyelination and belongs to a group of genetic diseases referred to as leukodystrophies Hallmark signs and symptoms of Pelizaeus–Merzbacher disease include little or no movement in the arms or legs, respiratory difficulties, and characteristic horizontal movements of the eyes left to right. The onset of Pelizaeus–Merzbacher disease is usually in early infancy. The most characteristic early signs are nystagmus (rapid, involuntary, rhythmic motion of the eyes) and low muscle tone. Motor abilities are delayed or never acquired, mostly depending upon the severity of the mutation. Most children with Pelizaeus–Merzbacher disease learn to understand language, and usually have some speech. Other signs may include tremor, lack of coordination, involuntary movements, weakness, unsteady gait, and over time, spasticity in legs and arms. Muscle contractures often occur over time. Mental functions may deteriorate. Some patients may have convulsions and skeletal deformation, such as scoliosis, resulting from abnormal muscular stress on bones.
What is a periodic paralysis?
The periodic paralysis is loosely divided into types by how the patient reacts to potassium. In the most common form patients grow weak or paralyzed after foods or events which lower the level of potassium in the blood.
How many types of periodic paralysis are there?
The Periodic Paralyses include Hypokalaemia PP, Thyrotoxic PP, Hyperkalemic PP, Paramyotonia Congenita von Eulenburg, the Potassium Aggravated Myotonias and Andersen-Tawil Syndrome. The periodic paralysis is loosely divided into types by how the patient reacts to potassium.
What is Peripheral neuropathy?
Peripheral neuropathy, often shortened to neuropathy, is a general term describing disease affecting the peripheral nerves, meaning nerves beyond the brain and spinal cord. Damage to peripheral nerves may impair sensation, movement, gland or organ function depending on which nerves are affected; in other words, neuropathy affecting motor, sensory, or autonomic nerves result in different symptoms. More than one type of nerve may be affected simultaneously
What is Pervasive developmental disorders?
The term “pervasive development disorders,” also called PDDs, refers to a group of conditions that involve delays in the development of many basic skills, most notably the ability to socialize with others, to communicate, and to use imagination. Children with these conditions often are confused in their thinking and generally have problems understanding the world around them.
There are five types of pervasive development disorders:
Autism: Children with autism have problems with social interaction, pretend play, and communication. They also have a limited range of activities and interests. Many (nearly 75%) of children with autism also have some degree of mental retardation.
Asperger’s syndrome: Like children with autism, children with Asperger’s syndrome have difficulty with social interaction and communication, and have a narrow range of interests. However, children with Asperger’s have average or above average intelligence, and develop normally in the areas of language and cognition (the mental processes related to thinking and learning). Children with Asperger’s often also have difficulty concentrating and may have poor coordination.
Childhood disintegrative disorder: Children with this rare condition begin their development normally in all areas, physical and mental. At some point, usually between 2 and 10 years of age, a child with this illness loses many of the skills he or she has developed. In addition to the loss of social and language skills, a child with disintegrative disorder may lose control of other functions, including bowel and bladder control.
Rett’s syndrome: Children with this very rare disorder have the symptoms associated with a PDD and also suffer problems with physical development. They generally suffer the loss of many motor or movement, skills — such as walking and use of their hands — and develop poor coordination. This condition has been linked to a defect on the X chromosome, so it almost always affects girls.
Pervasive development disorder not otherwise specified (PDDNOS): This category is used to refer to children who have significant problems with communication and play, and some difficulty interacting with others, but are too social to be considered autistic.
What is Phantom limb / Phantom pain?
This is known as phantom limb pain. It’s most common in arms and legs, but some people will feel it when they have other body parts removed, such as a breast. For some people, the pain will go away on its own. For others, it can be long-lasting and severe.
What is Photic sneeze reflex?
The photic sneeze reflex (also known as Autosomal Compelling Helio-Ophthalmic Outburst (ACHOO) syndrome or photo-sneezia, from the Greek “light” and colloquially sun sneezing) is a reflex condition that causes sneezing in response to numerous stimuli, such as looking at bright lights or periocular (surrounding the eyeball) injection.
What is Phytanic acid storage disease?
Phytanic acid storage disease (known also as Refsum’s Disease) is caused by inherited defects in the metabolic pathway for phytanic acid, a dietary branched-chain fatty acid. Poorly metabolized phytanic acid accumulates in fatty
What is Pick Disease?
Pick disease is a brain disorder that causes slowly worsening decline of mental abilities.
What is Pinched nerve?
A pinched nerve occurs when too much pressure is applied to a nerve by surrounding tissues, such as bones, cartilage, muscles or tendons. This pressure disrupts the nerve’s function, causing pain, tingling, numbness or weakness.
A pinched nerve can occur at a number of sites in your body. A herniated disk in your lower spine, for example, may put pressure on a nerve root, causing pain that radiates down the back
What is Pituitary tumors?
Pituitary tumors are abnormal growths that develop in your pituitary gland. Some pituitary tumors result in too many of the hormones that regulate important functions of your body. Some pituitary tumors can cause your pituitary gland to produce lower levels of hormones. Most pituitary tumors are noncancerous (benign) growths (adenomas). Not all pituitary tumors cause symptoms. Pituitary tumors that make hormones (functioning) can cause a variety of signs and symptoms depending on the hormone they produce. The signs and symptoms of pituitary tumors that don’t make hormones (non-functioning) are related to their growth and the pressure they put on other structures. Large pituitary tumors — those measuring about 1 centimetre (slightly less than a half-inch) or larger — are known as macroadenomas. Smaller tumors are called microadenomas.
What is Polyneuropathy?
Polyneuropathy is a condition in which a person’s peripheral nerves are damaged. These are nerves that run throughout your body. Polyneuropathy affects the nerves in your skin, muscles, and organs.
What is polymicrogyria (PMG)?
Polymicrogyria PMG) is a condition characterized by abnormal development of the brain before birth. The surface of the brain normally has many ridges or folds, called gyri. In people with polymicrogyria, the brain develops too many folds, and the folds are unusually small.
What are symptoms of PMG in children?
However, there are some symptoms that are fairly common in children with PMG: Difficulty with speaking, swallowing, or chewing Epilepsy (recurrent seizures) -mild to severe Developmental delays related to neurological impairment of the muscles or cerebral palsy Mild to severe intellectual disability What causes PMG? diagnose PMG.
What is polio paralysis?
Poliomyelitis, often called polio or infantile paralysis, is an infectious disease caused by the poliovirus. In about 0.5 percent of cases there is muscle weakness resulting in an inability to move. This can occur over a few hours to a few days.
What is Polymyositis?
The hallmark of polymyositis is weakness and/or loss of muscle mass in the proximal musculature, as well as flexion of the neck and torso. These symptoms can be associated with marked pain in these areas as well. The hip extensors are often severely affected, leading to particular difficulty in climbing stairs and rising from a seated position. The skin involvement of dermatomyositis is absent in polymyositis. Dysphagia (difficulty swallowing) or other problems with oesophageal motility occur in as many as 1/3 of patients. Low grade fever and enlarged lymph nodes may be present. Foot drop in one or both feet can be a symptom of advanced polymyositis and inclusion body myositis. The systemic involvement of polymyositis includes interstitial lung disease (ILD) and heart disease, such as heart failure and conduction abnormalities.
Polymyositis tends to become evident in adulthood, presenting with bilateral proximal muscle weakness often noted in the upper legs due to early fatigue while walking. Sometimes the weakness presents itself as an inability to rise from a seated position without help or an inability to raise one’s arms above one’s head. The weakness is generally progressive, accompanied by lymphocytic inflammation (mainly cytotoxic T cells).
What is Porencephaly?
Porencephaly is an extremely rare disorder of the central nervous system in which a cyst or cavity filled with cerebrospinal fluid develops in the brain. It is usually the result of damage from stroke or infection after birth (the more common type), but it can also be caused by abnormal development before birth (which is inherited and less common).
What is Post-polio syndrome?
The hallmark of post-polio syndrome is new muscular weakness. This may present as weakness in the arms, legs, or trunk or difficulty with swallowing, talking or breathing if the muscles that control these functions are affected. Other symptoms of post-polio syndrome include muscle pain, fatigue and cold intolerance.
Can post-polio syndrome be reversed?
Post-polio syndrome usually worsens slowly. With a combination of multi-disciplinary rehabilitation approaches and lifestyle modifications, people often can return to or approach their previous level of functioning. Post-polio syndrome does not usually cause symptoms that are as severe as the original polio illness.
What is Postherpetic neuralgia?
Postherpetic neuralgia is the most common complication of shingles. The condition affects nerve fibers and skin, causing burning pain that lasts long after the rash and blisters of shingles disappear. The chickenpox (herpes zoster) virus causes shingles. The risk of postherpetic neuralgia increases with age, primarily affecting people older than 60. The signs and symptoms of postherpetic neuralgia are generally limited to the area of your skin where the shingles outbreak first occurred — most commonly in a band around your trunk, usually on one side of your body. Signs and symptoms might include: 1. Pain that lasts three months or longer after the shingles rash has healed. The associated pain has been described as burning, sharp and jabbing, or deep and aching. 2. Sensitivity to light touch.
What is Posttraumatic stress disorder?
Post-traumatic stress disorder (PTSD) is a mental disorder that can develop after a person is exposed to a traumatic event, such as sexual assault, warfare, traffic collisions, child abuse, or other threats on a person’s life. Post-traumatic stress disorder (PTSD) is a mental health condition that’s triggered by a terrifying event — either experiencing it or witnessing it. Symptoms may include flashbacks, nightmares and severe anxiety, as well as uncontrollable thoughts about the event. Most people who go through traumatic events may have temporary difficulty adjusting and coping, but with time and good self-care, they usually get better.
What is Postural hypotension?
Orthostatic hypotension — also called postural hypotension — is a form of low blood pressure that happens when you stand up from sitting or lying down. Orthostatic hypotension can make you feel dizzy or lightheaded, and maybe even faint. Orthostatic hypotension may be mild and last for less than a few minutes. The most common symptom is light-headedness or dizziness when you stand up after sitting or lying down. Symptoms usually last less than a few minutes. Orthostatic hypotension signs and symptoms include: 1. Feeling lightheaded or dizzy after standing up 2. Blurry vision 3. Weakness 4. Fainting (syncope) 5. Confusion 6. Nausea
What is Postural orthostatic tachycardia syndrome?
Postural orthostatic tachycardia syndrome (POTS) is a condition in which a change from lying to standing causes an abnormally large increase in heart rate. This occurs with symptoms that may include light-headedness, trouble thinking, blurred vision or weakness.
What is Prader–Willi syndrome?
Prader–Willi syndrome (PWS) is a genetic disorder caused by a loss of function of specific genes on chromosome 15. In new-borns, symptoms include weak muscles, poor feeding, and slow development. Beginning in childhood, those affected become constantly hungry, which often leads to obesity and type 2 diabetes. Mild to moderate intellectual impairment and behavioural problems are also typical of the disorder. Often, affected individuals have a narrow forehead, small hands and feet, short height, light skin and hair, and are unable to have children.
What is Primary lateral sclerosis?
Primary lateral sclerosis (PLS) is a type of motor neuron disease that causes nerves within the brain to slowly break down. This makes the nerves unable to activate the motor neurons in the spinal cord, which control muscles. PLS causes weakness in your voluntary muscles, such as those you use to control your legs, arms and tongue. This condition can develop at any age. Signs and symptoms of primary lateral sclerosis (PLS) usually take years to progress. They include: 1. Stiffness, weakness and muscle spasms (spasticity) in your legs, often starting in one leg 2. Tripping, difficulty with balance and clumsiness as the leg muscles weaken 3. Weakness and stiffness progressing to your trunk, then your arms, hands, tongue and jaw 4. Hoarseness, as well as slowed, slurred speech and drooling as the facial muscles weaken 5. Difficulties with swallowing
What is Creutzfeldt-Jakob disease?
Creutzfeldt-Jakob Disease. Creutzfeldt-Jakob disease (CJD) is the most common human form of a group of rare, fatal brain disorders known as prion diseases. Prions cause neurodegenerative disease by aggregating extracellularly within the central nervous system to form plaques known as amyloid, which disrupt the normal tissue structure. This disruption is characterized by “holes” in the tissue with resultant spongy architecture due to the vacuole formation in the neurons. Other histological changes include astrogliosis and the absence of an inflammatory reaction
What is Progressive hemifacial atrophy?
Progressive hemifacial atrophy (PHA), also known as Parry-Romberg syndrome, is characterized by slowly progressive deterioration of the skin and soft tissues on one side of the face. I It sometimes occurs on both sides of the face and occasionally involves the arm, trunk, and/or leg.
What is progressive multifocal encephalopathy?
Summary. Progressive multifocal encephalopathy (PML) is a fatal demyelinating disease of the central nervous system (CNS), caused by the lytic infection of oligodendrocytes by a human polyomavirus, JC virus (JCV). PML is a rare but fatal CNS disease characterized by demyelination of the neuronal cells leading to severe neurological impairments.
What is Progressive supranuclear palsy?
Progressive supranuclear palsy, also called Steele-Richardson-Olszewski syndrome, is an uncommon brain disorder that causes serious problems with walking, balance and eye movements. The disorder results from deterioration of cells in areas of your brain that control body movement and thinking. The characteristic signs and symptoms of progressive supranuclear palsy include: 1. A loss of balance while walking. A tendency to fall backward can occur very early in the disease. 2. An inability to aim your eyes properly. You may have particular difficulty looking downward, or experience blurring and doubled vision. This difficulty with focusing the eyes can make some people spill food or appear disinterested in conversation because of poor eye contact. Akinesia like Parkinson’s disease not responding to levodopa may be PSP.
What is Prosopagnosia?
It is a neurological condition characterized by the inability to recognize the faces of familiar people.
What is Pseudotumor cerebri?
Pseudotumor cerebri occurs when the pressure inside your skull (intracranial pressure) increases for no obvious reason. It’s also called idiopathic intracranial hypertension. Symptoms mimic those of a brain tumour. The increased intracranial pressure can cause swelling of the optic nerve and result in vision loss. Medications often can reduce this pressure and the headache. Pseudotumor cerebri signs and symptoms might include: 1. Often severe headaches that might originate behind your eyes 2. A whooshing sound in your head that pulses with your heartbeat 3. Nausea, vomiting or dizziness 4. Vision loss 5. Brief episodes of blindness, lasting a few seconds and affecting one or both eyes 6. Difficulty seeing to the side 7. Double vision 8. Seeing light flashes 9. Neck, shoulder or back pain. Sometimes, symptoms that have resolved can recur months or years later.
What is Quadrantanopia?
Quadrantanopia, quadrantanopsia, refers to an anopia affecting a quarter of the field of vision. It can be associated with a lesion of an optic radiation. While quadrantanopia can be caused by lesions in the temporal and parietal lobes, it is most commonly associated with lesions in the occipital lobe.
What is Quadriplegia?
Quadriplegia, or tetraplegia, is paralysis of your arms, hands, trunk, legs, and pelvic organs. Quadriplegia is caused by damage to your spinal cord. When the spinal cord is damaged, you lose feeling and movement. Your symptoms may depend on the location and severity of your spinal cord injury.
What is Rabies?
Rabies is a viral disease that causes inflammation of the brain in humans and other mammals. Early symptoms can include fever and tingling at the site of exposure. These symptoms are followed by one or more of the following symptoms: violent movements, uncontrolled excitement, fear of water, an inability to move parts of the body, confusion, and loss of consciousness. Once symptoms appear, the result is nearly always death. The time period between contracting the disease and the start of symptoms is usually one to three months, but can vary from less than one week to more than one year. The time depends on the distance the virus must travel along peripheral nerves to reach the central nervous system.
Rabies is caused by lyssaviruses, including the rabies virus and Australian bat lyssavirus. It is spread when an infected animal bites or scratches a human or other animal. Saliva from an infected animal can also transmit rabies if the saliva comes into contact with the eyes, mouth, or nose. Globally, dogs are the most common animal involved. In countries where dogs commonly have the disease, more than 99% of rabies cases are the direct result of dog bites. In the Americas, bat bites are the most common source of rabies infections in humans, and less than 5% of cases are from dogs. Rodents are very rarely infected with rabies. The disease can be diagnosed only after the start of symptoms.
Animal control and vaccination programs have decreased the risk of rabies from dogs in a number of regions of the world. Immunizing people before they are exposed is recommended for those at high risk, including those who work with bats or who spend prolonged periods in areas of the world where rabies is common. In people who have been exposed to rabies, the rabies vaccine and sometimes rabies immunoglobulin are effective in preventing the disease if the person receives the treatment before the start of rabies symptoms. Washing bites and scratches for 15 minutes with soap and water, povidone-iodine, or detergent may reduce the number of viral particles and may be somewhat effective at preventing the spread.
What is Radiculopathy?
In a radiculopathy, the problem occurs at or near the root of the nerve, shortly after its exit from the spinal cord. However, the pain or other symptoms often radiate to the part of the body served by that nerve. For example, a nerve root impingement in the neck can produce pain and weakness in the forearm. Likewise, an impingement in the lower back or lumbar-sacral spine can be manifested with symptoms in the foot.
The radicular pain that results from a radiculopathy should not be confused with referred pain, which is different both in mechanism and clinical features.
Polyradiculopathy refers to the condition where more than one spinal nerve root is affected.
What is Ramsay Hunt syndrome type I?
Ramsay Hunt syndrome (RHS) type 1 is a rare, degenerative, neurological disorder characterized by myoclonus epilepsy, intention tremor, progressive ataxia and occasionally cognitive impairment.
What is Ramsay Hunt syndrome type II?
Ramsay Hunt syndrome (type II), also called herpes zoster oticus, is a rare neuro-dermatologic condition that causes a rash and facial paralysis. It is caused by the same virus that causes chickenpox and shingles (varicella-zoster virus). The condition was identified and named after neurologist James Ramsey Hunt in 1907.
What is Ramsay Hunt syndrome type III?
Ramsay Hunt syndrome type III. This type of Ramsay Hunt syndrome is a less common condition that is induced by a neuropathy involving the palms. This condition is also referred as Hunt’s disease or the Artisan’s palsy.
What is the prognosis for Ramsey Hunt syndrome?
The prognosis for Ramsay Hunt syndrome is not as good as that for Bell’s palsy. There is good clinical evidence to suggest that treatment with steroids, pain medications, and antiviral agents (like acyclovir, valacyclovir or famciclovir) improve recovery and lessen the extreme facial discomfort.
What is Rasmussen encephalitis?
Rasmussen’s encephalitis, is a rare inflammatory neurological disease, characterized by frequent and severe seizures, loss of motor skills and speech, hemiparesis (weakness on one side of the body), encephalitis (inflammation of the brain), and dementia. The illness affects a single cerebral hemisphere and generally occurs in children under the age of 15.
What is Reflex neurovascular dystrophy?
Reflex Neurovascular Dystrophy (RND) is a childhood condition that affects how the body handles pain. In adults, this condition is known as reflex sympathetic dystrophy (RSD), even though the symptoms and treatment are essentially the same.
What is Refsum disease?
Refsum disease is an autosomal recessive neurological disease that results in the over-accumulation of phytanic acid in cells and tissues. It is one of several disorders named after Norwegian neurologist Sigvald Bernhard Refsum (1907–1991). Refsum disease typically is adolescent onset and is diagnosed by above average levels of phytanic acid.
What is REM sleep behaviour disorder?
With REM sleep behaviour disorder, instead of experiencing the normal temporary paralysis of your arms and legs (atonia) during REM sleep, you physically act out your dreams. The onset can be gradual or sudden, and episodes may occur occasionally or several times a night. The disorder often worsens with time. Symptoms of REM sleep behaviour disorder may include: 1. Movement, such as kicking, punching, arm flailing or jumping from bed, in response to action-filled or violent dreams,
What is Repetitive stress injury?
A repetitive strain injury (RSI), sometimes referred to as repetitive stress injury, is a gradual build-up of damage to muscles, tendons, and nerves from repetitive motions.
What is Restless legs syndrome?
Restless legs syndrome (RLS) is a condition that causes an uncontrollable urge to move your legs, usually because of an uncomfortable sensation. It typically happens in the evening or night-time hours when you’re sitting or lying down. Moving eases, the unpleasant feeling temporarily. Restless legs syndrome, now known as restless legs syndrome/Willis-Ekbom disease (RLS/WED), can begin at any age. If RLS is not linked to an underlying cause, its frequency may be reduced by lifestyle modifications such as adopting improving sleep hygiene, regular exercise, and stopping smoking. Medications used may include dopamine agonists or gabapentin in those with daily restless legs syndrome, and opioids for treatment of resistant cases.
Treatment of RLS should not be considered until possible medical causes are ruled out. Secondary RLS may be cured if precipitating medical conditions (anaemia) are managed effectively.
What is Retrovirus-associated myelopathy?
Tropical spastic paraparesis (TSP), is a medical condition that causes weakness, muscle spasms, and sensory disturbance by human T-lymphotropic virus resulting in paraparesis, weakness of the legs. As the name suggests, it is most common in tropical regions, including the Caribbean. Blood transfusion products are screened for HTLV-1 antibodies, as a preventive measure.
What is Rett syndrome?
Rett syndrome is a rare genetic neurological and developmental disorder that affects the way the brain develops, causing a progressive loss of motor skills and speech. This disorder primarily affects girls. Most babies with Rett syndrome seem to develop normally for the first 6 to 18 months of age, and then lose skills they previously had — such as the ability to crawl, walk, communicate or use their hands. Over time, children with Rett syndrome have increasing problems with the use of muscles.
What is Reye’s syndrome?
Reye syndrome is a rapidly worsening brain disease. Symptoms may include vomiting, personality changes, confusion, seizures, and loss of consciousness. Even though liver toxicity typically occurs, jaundice usually does not. The cause of Reye syndrome is unknown. It usually begins shortly after recovery from a viral infection, such as influenza or chickenpox. About 90% of cases in children are associated with aspirin (salicylate) use. Inborn errors of metabolism are also a risk factor. Changes on blood tests may include a high blood ammonia level, low blood sugar level, and prolonged prothrombin time. Often the liver is enlarged.
Prevention is typically by avoiding the use of aspirin in children. When aspirin was withdrawn for use in children a decrease of more than 90% in rates of Reye syndrome was seen. Early diagnosis improves outcomes. Treatment is supportive. Mannitol may be used to help with the brain swelling.
The first detailed description of Reye syndrome was in 1963 by Douglas Reye, an Australian pathologist. Children are most commonly affected. It affects fewer than one in a million children a year. The general recommendation to use aspirin in children was withdrawn because of Reye syndrome, with use of aspirin only recommended in Kawasaki disease.
What is Rhythmic movement disorder?
Rhythmic movement disorder (RMD) is a neurological disorder characterized by repetitive movements of large muscle groups immediately before and during sleep often involving the head and neck. It was independently described first in 1905 by Zappert as jactatio capitis nocturna and by Cruchet as rhythmie du sommeil.
What is Romberg syndrome?
Parry–Romberg syndrome (PRS) is a rare disease characterized by progressive shrinkage and degeneration of the tissues beneath the skin, usually on only one side of the face (hemifacial atrophy) but occasionally extending to other parts of the body.
What is Saint Vitus Dance Disease?
Saint Vitus’ Dance is an alternative name for the movement disorder Sydenham’s chorea (chorea minor). This condition presents as jerky, uncoordinated movements of the face, feet, and hands, and sometimes the limbs.
What is Sandhoff disease?
Sandhoff disease, is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B. These catabolic enzymes are needed to degrade the neuronal membrane components, ganglioside GM2, its derivative GA2, the glycolipid globoside in visceral tissues, and some oligosaccharides
What is Sanfilippo syndrome?
Sanfilippo syndrome, also known as mucopolysaccharidosis type III (MPS III), is a rare autosomal recessive lysosomal storage disease that primarily affects the brain and spinal cord. It is caused by a build-up of large sugar molecules called glycosaminoglycans (AKA GAGs, or mucopolysaccharides) in the body’s lysosomes. Affected children generally do not show any signs or symptoms at birth. In early childhood, they begin to develop developmental disability and loss of previously learned skills. In later stages of the disorder, they may develop seizures and movement disorders. Patients with Sanfilippo syndrome usually live into adolescence or early adulthood.
What is Schilder s disease?
Schilder’s disease is thought to be a form of multiple sclerosis. With MS, the immune system attacks the myelin, hurting it and the nerves it protects. Schilder’s disease has several other names. It’s also known as: Diffuse cerebral sclerosis.
What is Schizencephaly?
Schizencephaly is a rare birth defect. It causes slits or clefts in the cerebral hemispheres of your brain. These clefts may appear on one or both sides of your brain. They may be filled with cerebrospinal fluid
What is Sensory processing disorder?
Sensory Processing Disorder or SPD (originally called Sensory Integration Dysfunction) is a neurological disorder in which the sensory information that the individual perceives results in abnormal responses. Sensory processing refers to the way the nervous system receives messages from the senses and turns them into responses.
What is Septo-optic dysplasia?
Septo-optic dysplasia (SOD), is a rare congenital malformation syndrome featuring underdevelopment of the optic nerve, pituitary gland dysfunction, and absence of the septum pellucidum (a midline part of the brain). Two of these features need to be present for a clinical diagnosis — only 30% of patients have all three.
What is Shaken baby syndrome?
Shaken baby syndrome also known as abusive head trauma, shaken impact syndrome, inflicted head injury or whiplash shake syndrome — is a serious brain injury resulting from forcefully shaking an infant or toddler. Shaken baby syndrome destroys a child’s brain cells and prevents his or her brain from getting enough oxygen. Shaken baby syndrome is a form of child abuse that can result in permanent brain damage. Shaken baby syndrome symptoms and signs include: 1. Extreme fussiness or irritability 2. Difficulty staying awake 3. Breathing problems 4. Poor eating 5. Vomiting 6. Pale or bluish skin 7. Seizures 8. Paralysis 9. Coma. You may not see any signs of physical injury to the child’s outer body. Sometimes, the face is bruised. Injuries that might not be immediately seen include bleeding in the brain and eyes, spinal cord damage, and fractures of the ribs, skull, legs and other bones.
What is Shingles?
The signs and symptoms of shingles usually affect only a small section of one side of your body. These signs and symptoms may include: 1. Pain, burning, numbness or tingling 2. Sensitivity to touch 3. A red rash that begins a few days after the pain 4. Fluid-filled blisters that break open and crust over 5. Itching. Some people also experience: 1. Fever 2. Headache 3. Sensitivity to light 4. Fatigue Pain is usually the first symptom of shingles. For some, it can be intense.
What is Shy–Drager syndrome?
Shy-Drager syndrome (SDS) is a rare condition that causes progressive damage to the autonomic nervous system. The autonomic nervous system controls vital involuntary body functions such as heart rate, breathing, and intestinal, urinary, and sexual functions.
What is Sjögren’s syndrome?
Sjogren’s (SHOW-grins) syndrome is a disorder of your immune system identified by its two most common symptoms — dry eyes and a dry mouth. The condition often accompanies other immune system disorders, such as rheumatoid arthritis and lupus. The two main symptoms of Sjogren’s syndrome are: 1. Dry eyes. Some people with Sjogren’s syndrome also have one or more of the following: 1. Joint pain, swelling and stiffness 2. Swollen salivary glands — particularly the set located behind your jaw and in front of your ears 3. Skin rashes or dry skin 4. Vaginal dryness
What is Sleep apnea?
The signs and symptoms of obstructive and central sleep apneas overlap, sometimes making it difficult to determine which type you have. The most common signs and symptoms of obstructive and central sleep apneas include:
Episodes in which you stop breathing during sleep — which would be reported by another person
Gasping for air during sleep
Awakening with a dry mouth
Difficulty staying asleep (insomnia)
Excessive daytime sleepiness (hypersomnia)
Difficulty paying attention while awake
What is Sleeping sickness?
African trypanosomiasis, also known as African sleeping sickness or simply sleeping sickness, is an insect-borne parasitic infection of humans and other animals. It is caused by the species Trypanosoma brucei. Humans are infected by two types, Trypanosoma brucei gambiense (TbG) and Trypanosoma brucei rhodesiense (TbR). TbG causes over 98% of reported cases. Both are usually transmitted by the bite of an infected tsetse fly and are most common in rural areas. The disease attacks the brain, leaving some victims in a statue-like condition, speechless and motionless.
What is Snatiation?
Snatiation is a term coined in jest to refer to the medical condition originally termed “stomach sneeze reflex”, which is characterized by uncontrollable bursts of sneezing brought on by fullness of the stomach, typically immediately after a large meal.
What is Sotos syndrome?
Sotos syndrome is a rare genetic disorder characterized by excessive physical growth during the first years of life. Excessive growth often starts in infancy and continues into the early teen years. The disorder may be accompanied by autism, mild intellectual disability, delayed motor, cognitive, and social development, hypotonia (low muscle tone), and speech impairments. Children with Sotos syndrome tend to be large at birth and are often taller, heavier, and have relatively large skulls (macrocephaly) than is normal for their age. Signs of the disorder, which vary among individuals, include a disproportionately large skull with a slightly protrusive forehead, large hands and feet, large mandible, hypertelorism (an abnormally increased distance between the eyes), and down slanting eyes. Clumsiness, an awkward gait, and unusual aggressiveness or irritability may also occur. Although most cases of Sotos syndrome occur sporadically, familial cases have also been reported. It is similar to Weaver syndrome.
What is Spasticity?
Spasticity is a feature of altered skeletal muscle performance with a combination of paralysis, increased tendon reflex activity, and hypertonia. It is also colloquially referred to as an unusual “tightness”, stiffness, or “pull” of muscles.
What is Spina bifida?
Spina bifida is a birth defect in which there is incomplete closing of the spine and the membranes around the spinal cord during early development in pregnancy. There are three main types: spina bifida occulta, meningocele and myelomeningocele.
What is Spinal and bulbar muscular atrophy?
Spinal and bulbar muscular atrophy (SBMA) is an adult-onset degenerative disorder of the neuromuscular system resulting in slowly progressive weakness and atrophy of the proximal limb and bulbar muscles. The disease is caused by the expansion of a CAG/glutamine tract in the amino-terminus of the androgen receptor.
What is Spinal cord injury?
A spinal cord injury (SCI) is damage to the spinal cord that causes temporary or permanent changes in its function. Symptoms may include loss of muscle function, sensation, or autonomic function in the parts of the body served by the spinal cord below the level of the injury. Injury can occur at any level of the spinal cord and can be complete injury, with a total loss of sensation and muscle function, or incomplete, meaning some nervous signals are able to travel past the injured area of the cord.
What is Spinal cord tumors?
Spinal cord tumours can cause different signs and symptoms, especially as tumors grow. The tumors may affect your spinal cord or the nerve roots, blood vessels or bones of your spine. Signs and symptoms may include: 1. Pain at the site of the tumour due to tumor growth 2. Back pain, often radiating to other parts of your body 3. Feeling less sensitive to pain, heat and cold 4. Loss of bowel or bladder function 5. Difficulty walking, sometimes leading to falls 6. Back pain that’s worse at night…
What is Spinal muscular atrophy?
Spinal muscular atrophy (SMA) is a group of neuromuscular disorders that result in the loss of motor neurons and progressive muscle wasting. The severity of symptoms and age of onset varies by the type. Some types are apparent at or before birth while others are not apparent until adulthood.
Spinal muscular atrophy with respiratory distress type 1 – see Distal spinal muscular atrophy type 1
Distal spinal muscular atrophy type 1 (DSMA1), also known as spinal muscular atrophy with respiratory distress type 1 (SMARD1), is a rare neuromuscular disorder involving death of motor neurons in the spinal cord which leads to a generalised progressive atrophy of body muscles.
What is Spinocerebellar ataxia?
Spinocerebellar ataxia (SCA) is a progressive, degenerative, genetic disease with multiple types, each of which could be considered a neurological condition in its own right. An estimated 150,000 people in the United States have a diagnosis of spinocerebellar ataxia at any given time. The spinocerebellar ataxias (SCAs) are a large complex group of inherited neurodegenerative disorders characterized by progressive cerebellar ataxia, ocular motor abnormalities, and a range of other variable neurologic features, including retinopathy, optic atrophy, peripheral neuropathy, extrapyramidal symptoms, and cognitive dysfunction
What is Split-brain?
Split-brain or callosal syndrome is a type of disconnection syndrome when the corpus callosum connecting the two hemispheres of the brain is severed to some degree. It is an association of symptoms produced by disruption of, or interference with, the connection between the hemispheres of the brain. The surgical operation to produce this condition (corpus callosotomy) involves transection of the corpus callosum, and is usually a last resort to treat refractory epilepsy. Initially, partial callosotomies are performed; if this operation does not succeed, a complete callosotomy is performed to mitigate the risk of accidental physical injury by reducing the severity and violence of epileptic seizures. Before using callosotomies, epilepsy is instead treated through pharmaceutical means after surgery, neuropsychological assessments are often performed.
What is Steele–Richardson–Olszewski syndrome (Progressive supranuclear palsy)?
Progressive supranuclear palsy is a neurodegenerative disease which affects the brainstem and basal ganglia. Patients present with disturbance of balance, a disorder of downward gaze and L-DOPA-unresponsive parkinsonism and usually develop progressive dysphagia and dysarthria leading to death from the complications of immobility and aspiration.
What is Stiff-person syndrome?
Stiff-person syndrome (SPS), also known as stiff-man syndrome (SMS), is a rare neurologic disorder of unclear cause characterized by progressive rigidity and stiffness. The stiffness primarily affects the truncal muscles and is superimposed by spasms, resulting in postural deformities. Benzodiazepine-class drugs are the most common treatment; they are used for symptom relief from stiffness. Other common treatments include baclofen, intravenous immunoglobin and rituximab. There is a limited but encouraging therapeutic experience of hematopoietic stem cell transplantation for SPS.
What is Stroke?
A stroke occurs when the blood supply to part of your brain is interrupted or reduced, depriving brain tissue of oxygen and nutrients. Within minutes, brain cells begin to die. A stroke is a medical emergency. Prompt treatment is crucial. Early action can minimize brain damage and potential complications
What is Management of Ischemic stroke?
Aspirin reduces the overall risk of recurrence by 13% with greater benefit early on. Definitive therapy within the first few hours is aimed at removing the blockage by breaking the clot down (thrombolysis), or by removing it mechanically (thrombectomy).
Tight blood sugar control in the first few hours does not improve outcomes and may cause harm. High blood pressure is also not typically lowered as this has not been found to be helpful. Cerebrolysin, a mix of pig brain tissue used to treat acute ischemic stroke in many Asian and European countries, does not improve outcomes and may increase the risk of severe adverse events.
Thrombolysis, such as with recombinant tissue plasminogen activator (rtPA), in acute ischemic stroke, when given within three hours of symptom onset, results in an overall benefit of 10% with respect to living without disability. It does not, however, improve chances of survival. Benefit is greater the earlier it is used. Between three and four and a half hours the effects are less clear. The AHA/ASA recommend it for certain people in this time frame. A 2014 review found a 5% increase in the number of people living without disability at three to six months; however, there was a 2% increased risk of death in the short term. After four and a half hours thrombolysis worsens outcomes. These benefits or lack of benefits occurred regardless of the age of the person treated. There is no reliable way to determine who will have an intracranial bleed post-treatment versus who will not. In those with findings of saveable tissue on medical imaging between 4.5 hours and 9 hours or who wake up with a stroke, alteplase results in some benefit.
Mechanical removal of the blood clot causing the ischemic stroke, called mechanical thrombectomy, is a potential treatment for occlusion of a large artery, such as the middle cerebral artery.
Strokes affecting large portions of the brain can cause significant brain swelling with secondary brain injury in surrounding tissue. This phenomenon is mainly encountered in strokes affecting brain tissue dependent upon the middle cerebral artery for blood supply and is also called “malignant cerebral infarction” because it carries a dismal prognosis. Relief of the pressure may be attempted with medication, but some require hemicraniectomy, the temporary surgical removal of the skull on one side of the head. This decreases the risk of death, although some people – who would otherwise have died – survive with disability.
What is Hemorrhagic stroke?
People with intracerebral hemorrhage require supportive care, including blood pressure control if required. People are monitored for changes in the level of consciousness, and their blood sugar and oxygenation are kept at optimum levels. Anticoagulants and anti-thrombotics can make bleeding worse and are generally discontinued. A proportion may benefit from neurosurgical intervention to remove the blood and treat the underlying cause, but this depends on the location and the size of the hemorrhage as well as patient-related factors, and ongoing research is being conducted into the question as to which people with intracerebral hemorrhage may benefit.
In subarachnoid haemorrhage, early treatment for underlying cerebral aneurysms may reduce the risk of further haemorrhages. Depending on the site of the aneurysm this may be by surgery that involves opening the skull or endovascularly (through the blood vessels)
What is Sturge–Weber syndrome?
Sturge–Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. It is one of the phakomatoses and is often associated with port-wine stains of the face, glaucoma, seizures, intellectual disability, and ipsilateral leptomeningeal angioma (cerebral malformations and tumours).
What is Stuttering?
Stuttering, also known as stammering and dysphemia, is a speech disorder in which the flow of speech is disrupted by involuntary repetitions and prolongations of sounds, syllables, words or phrases as well as involuntary silent pauses or blocks in which the person who stutters is unable to produce sounds.
What is Subacute sclerosing panencephalitis?
Subacute sclerosing panencephalitis (SSPE)—also known as Dawson disease —is a rare form of chronic progressive brain inflammation caused by slow infection with certain defective strains of hypermutated measles virus. The condition primarily affects children, teens, and young adults.
What is Subcortical arteriosclerotic encephalopathy?
The subcortical arteriosclerotic encephalopathy of Binswanger is characterized clinically by hypertension, dementia, spasticity, syncope, and seizures. It is usually diagnosed pathologically by the finding in white matter of diffuse demyelination or foci of necrosis plus arteriosclerotic and hypertensive vasculopathy.
What is Superficial siderosis?
Superficial hemosiderosis of the central nervous system is a disease of the brain resulting from chronic iron deposition in neuronal tissues associated with cerebrospinal fluid. This occurs via the deposition of hemosiderin in neuronal tissue, and is associated with neuronal loss, gliosis, and demyelination of neuronal cells.
What is Sydenham’s chorea?
Sydenham’s chorea is a neurological disorder characterized by rapid, jerky, irregular, and involuntary movements (chorea), especially of the face and limbs. Additional symptoms may include muscle weakness, slurred speech, headaches, and seizures.
What is Syncope?
Syncope, also known as fainting, is a loss of consciousness and muscle strength characterized by a fast onset, short duration, and spontaneous recovery. It is caused by a decrease in blood flow to the brain, typically from low blood pressure. Common tests & procedures are Electrocardiogram (ECG or EKG): To detect irregular heart rhythms and other cardiac problems.
Echocardiogram: To identify heart valve problems. Stress test: Studies heart rhythm and the extent of stress it can bear during exercise. Complete blood count (CBC): To check for anaemia.
What is Synesthesia?
Synesthesia is a perceptual phenomenon in which stimulation of one sensory or cognitive pathway leads to involuntary experiences in a second sensory or cognitive pathway. People who report a lifelong history of such experiences are known as synesthetes.
What is Syringomyelia?
Syringomyelia is a generic term referring to a disorder in which a cyst or cavity forms within the spinal cord. This cyst, called a syrinx, can expand and elongate over time, destroying the spinal cord. The damage may result in loss of feeling, paralysis, weakness, and stiffness in the back, shoulders, and extremities. Syringomyelia has a prevalence estimated at 8.4 cases per 100,000 people, with symptoms usually beginning in young adulthood. Signs of the disorder tend to develop slowly, although sudden onset may occur with coughing, straining, or myelopathy.
What is Tardive dyskinesia?
Tardive dyskinesia (TD) is a disorder that results in involuntary, repetitive body movements, which may include grimacing, sticking out the tongue, or smacking the lips. Additionally, there may be rapid jerking movements or slow writhing movements. Tardive dyskinesia occurs in some people as a result of long-term use of dopamine-receptor-blocking medications such as antipsychotics and metoclopramide. These medications are usually used for mental illness but may also be given for gastrointestinal or neurological problems. The condition typically develops only after months to years of use. The diagnosis is based on the symptoms after ruling out other potential causes.
Efforts to prevent the condition include either using the lowest possible dose or discontinuing use of neuroleptics. Treatment includes stopping the neuroleptic medication if possible or switching to clozapine. Other medications such as valbenazine, tetrabenazine, or botulinum toxin may be used to lessen the symptoms. With treatment, some see a resolution of symptoms, while others do not.
Rates in those on atypical antipsychotics are about 20%, while those on typical antipsychotics have rates of about 30%. The risk of acquiring the condition is greater in older people. The term “tardive dyskinesia” first came into use in 1964.
What is Tarlov cyst?
Tarlov cysts, are type II innervated meningeal cysts, cerebrospinal-fluid -filled (CSF) sacs most frequently located in the spinal canal of the S1-to-S5 region of the spinal cord (much less often in the cervical, thoracic or lumbar spine), and can be distinguished from other meningeal cysts by their nerve-fiber-filled walls.
What is Tarsal tunnel syndrome?
Tinel’s test. The area under the medial malleolus on the inside of the ankle may be tender to touch. A professional therapist may use tinels test to diagnose tarsal tunnel syndrome. This involves tapping the nerve just behind the medial malleolus (the bony bit on the inside of the ankle) with a rubber hammer. Pain indicates a positive test.
What is Tay–Sachs disease?
Tay-Sachs disease is a rare disorder passed from parents to child. It’s caused by the absence of an enzyme that helps break down fatty substances. These fatty substances, called gangliosides, build up to toxic levels in the child’s brain and affect the function of the nerve cells. As the disease progresses, the child loses muscle control. Eventually, this leads to blindness, paralysis and death.
What is Temporal arteritis?
Giant cell arteritis (GCA), also called temporal arteritis, is an inflammatory disease of large blood vessels. Symptoms may include headache, pain over the temples, flu-like symptoms, double vision, and difficulty opening the mouth. Complication can include blockage of the artery to the eye with resulting blindness, aortic dissection, and aortic aneurysm. GCA is frequently associated with polymyalgia rheumatica.
What is Temporal lobe epilepsy?
Temporal lobe epilepsy (TLE) is a disorder of the nervous system which describes unprovoked seizures originating from the temporal lobe, and is further classified by the ILAE, as mesial TLE (MTLE) and lateral TLE (LTLE). 3,4 MTLE is the more common form of TLE, accounting for two-thirds of cases, 3 and within this classification, hippocampal sclerosis (HS) is a common pathology. Aura occurs in the majority of temporal lobe seizures. Most auras and automatisms last a very short period – seconds or 1 to 2 minutes. Auras may cause sensory, autonomic or psychic symptoms: Following the aura, a temporal lobe focal dyscognitive seizure begins with a wide-eyed, motionless stare, dilated pupils and behavioural arrest. Lip-smacking, chewing and swallowing may be noted.
What is Tetanus?
Tetanus, also called lockjaw, is a life-threatening infection caused by Clostridium tetani bacteria. Although these bacteria are especially common in the soil and manure of farms, they can be found almost anywhere. They live in the dirt of suburban gardens and in the dirty waters of floods. They also contaminate dust in cities. Tetanus bacteria usually enter the body through a dirty puncture wound, cut, scrape or some other break in the skin.
What is Tethered spinal cord syndrome?
All forms involve the pulling of the spinal cord at the base of the spinal canal, literally a tethered cord. The spinal cord normally hangs loose in the canal, free to move up and down with growth, and with bending and stretching. A tethered cord, however, is held taut at the end or at some point in the spinal canal. In children, a tethered cord can force the spinal cord to stretch as they grow. In adults the spinal cord stretches in the course of normal activity, usually leading to progressive spinal cord damage if untreated. TCS is often associated with the closure of a spina bifida. It can be congenital, such as in tight filum terminale, or the result of injury later in life.
What is Thalamocortical dysrhythmia?
Thalamocortical Dysrhythmia (TCD) is a theoretical framework in which neuroscientists try to explain the positive and negative symptoms induced by neuropsychiatric disorders like Parkinson’s Disease, neurogenic pain, tinnitus, schizophrenia, obsessive–compulsive disorder, depressive disorder and epilepsy.
What is Thomsen disease?
Thomsen disease is transmitted as an autosomal dominant trait. In those with Becker disease, symptoms most commonly become apparent between the ages of four and 12 years. As in Thomsen type myotonia congenita, affected individuals develop myotonia, associated muscle rigidity, and abnormal muscle enlargement (hypertrophy).
What is Thoracic outlet syndrome?
Thoracic outlet syndrome (TOS) is a condition in which there is compression of the nerves, arteries, or veins in the passageway from the lower neck to the armpit. There are three main types: neurogenic, venous, and arterial.
The neurogenic type is the most common and presents with pain, weakness, and occasionally loss of muscle at the base of the thumb. The venous type results in swelling, pain, and possibly a bluish coloration of the arm. The arterial type results in pain, coldness, and paleness of the arm.
TOS may result from trauma, repetitive arm movements, tumors, pregnancy, or anatomical variations such as a cervical rib. The diagnosis may be supported by nerve conduction studies and medical imaging. Other conditions that can produce similar symptoms include rotator cuff tear, cervical disc disorders, fibromyalgia, multiple sclerosis, and complex regional pain syndrome.
Initial treatment for the neurogenic type is with exercises to strengthen the chest muscles and improve posture. NSAIDs such as naproxen may be used for pain. Surgery is typically done for the arterial and venous types and for the neurogenic type if it does not improve with other treatments. Blood thinners may be used to treat or prevent blood clots. The condition affects about 1% of the population. It is more common in women than men and it occurs most commonly between 20 and 50 years of age. The condition was first described in 1818 and the current term “thoracic outlet syndrome” first used in 1956.
What is Tic Douloureux?
Trigeminal neuralgia, also known as tic douloureux, is a painful disorder of a nerve in the face called the trigeminal nerve or fifth cranial nerve. There are two trigeminal nerves, one on each side of the face. These nerves are responsible for detecting touch, pain, temperature and pressure sensations in areas of the face between the jaw and forehead. People who have trigeminal neuralgia usually have episodes of sudden, intense, “stabbing” or “shock like” facial pain.
What is Tinnitus?
Tinnitus is the perception of noise or ringing in the ears. A common problem, tinnitus affects about 15 to 20 percent of people. Tinnitus isn’t a condition itself — it’s a symptom of an underlying condition, such as age-related hearing loss, ear injury or a circulatory system disorder. Although bothersome, tinnitus usually isn’t a sign of something sinister.
What is Todd’s paralysis?
Todd’s paralysis is neurological condition that presents as a period of paralysis following a seizure. It’s also called Todd’s paresis or postictal paresis. This period of temporary weakness in your body can last for a few seconds, a few minutes, or several hours. The paralysis can be partial or complete.
What is Tourette syndrome?
Tourette syndrome or Tourette’s syndrome (abbreviated as TS or Tourette’s) is a common neurodevelopmental disorder that begins in childhood or adolescence. It is characterized by multiple movement (motor) tics and at least one vocal (phonic) tic. Tourette (too-RET) syndrome is a disorder that involves repetitive movements or unwanted sounds (tics) that can’t be easily controlled. For instance, you might repeatedly blink your eyes, shrug your shoulders or blurt out unusual sounds or offensive words.
What is Toxic encephalopathy?
Toxic encephalopathy can occur following acute or chronic exposure to neurotoxicants, which includes all-natural toxins. Exposure to toxic substances can lead to a variety of symptoms, characterized by an altered mental status, memory loss, and visual problems. Toxic encephalopathy can be caused by various chemicals, some of which are commonly used in everyday life, or cyanotoxins which are bio-accumulated from harmful algal blooms (HABs) which have settled on the benthic layer of a waterbody. Toxic encephalopathy can permanently damage the brain and currently treatment is mainly just for the symptoms.
What is Transient ischemic attack?
A transient ischemic attack (TIA) is a temporary period of symptoms similar to those of a stroke. A TIA usually lasts only a few minutes and doesn’t cause permanent damage. Often called a mini stroke, a transient ischemic attack may be a warning. About 1 in 3 people who has a transient ischemic attack will eventually have a stroke, with about half occurring within a year after the transient ischemic attack.
What is Transmissible spongiform encephalopathies?
Transmissible spongiform encephalopathies (TSEs) are a group of progressive, invariably fatal, conditions that are associated with prions and affect the brain (encephalopathies) and nervous system of many animals, including humans, cattle, and sheep.
What is Transverse myelitis?
TM is characterized by weakness and numbness of the limbs, deficits in sensation and motor skills, dysfunctional urethral and anal sphincter activities, and dysfunction of the autonomic nervous system that can lead to episodes of high blood pressure. Signs and symptoms vary according to the affected level of the spinal cord. The underlying cause of TM is unknown. The spinal cord inflammation seen in TM has been associated with various infections, immune system disorders, or damage to nerve fibers, by loss of myelin. Decreased electrical conductivity in the nervous system can result.
What is Traumatic brain injury?
Head injury is a broader category that may involve damage to other structures such as the scalp and skull. TBI can result in physical, cognitive, social, emotional and behavioural symptoms, and outcomes can range from complete recovery to permanent disability or death.
Causes include falls, vehicle collisions and violence. Brain trauma occurs as a consequence of a sudden acceleration or deceleration within the cranium or by a complex combination of both movement and sudden impact. In addition to the damage caused at the moment of injury, a variety of events following the injury may result in further injury. These processes include alterations in cerebral blood flow and pressure within the skull. Some of the imaging techniques used for diagnosis include computed tomography (CT) and magnetic resonance imaging (MRIs).
Prevention measures include use of seat belts and helmets, not drinking and driving, fall prevention efforts in older adults and safety measures for children. Depending on the injury, treatment required may be minimal or may include interventions such as medications, emergency surgery or surgery years later. Physical therapy, speech therapy, recreation therapy, occupational therapy and vision therapy may be employed for rehabilitation. Counselling, supported employment and community support services may also be useful.
TBI is a major cause of death and disability worldwide, especially in children and young adults.
What is Tremor?
A tremor is an involuntary, somewhat rhythmic, muscle contraction and relaxation involving oscillations or twitching movements of one or more body parts. It is the most common of all involuntary movements and can affect the hands, arms, eyes, face, head, vocal folds, trunk, and legs. Most tremors occur in the hands. In some people, a tremor is a symptom of another neurological disorder. A very common tremor is the teeth chattering, usually induced by cold temperatures or by fear.
What is Trichotillomania?
Trichotillomania (TTM), also known as hair pulling disorder or compulsive hair pulling, is a mental disorder characterized by a long-term urge that results in the pulling out of one’s hair. This occurs to such a degree that hair loss can be seen.
What is Trigeminal neuralgia?
Trigeminal neuralgia (TN or TGN) is a long-term pain disorder that affects the trigeminal nerve. There are two main types: typical and atypical trigeminal neuralgia. The typical form results in episodes of severe, sudden, shock-like pain in one side of the face that lasts for seconds to a few minutes. Groups of these episodes can occur over a few hours.The atypical form results in a constant burning pain that is less severe. Groups of these episodes can occur over a few hours. The atypical form results in a constant burning pain that is less severe. Episodes may be triggered by any touch to the face. Both forms may occur in the same person. It is regarded to be one of the most painful disorders known to medicine, and often results in depression.
The exact cause is unknown, but believed to involve loss of the myelin of the trigeminal nerve. This might occur due to compression from a blood vessel as the nerve exits the brain stem, multiple sclerosis, stroke, or trauma. Less common causes include a tumour or arteriovenous malformation. It is a type of nerve pain. Diagnosis is typically based on the symptoms, after ruling out other possible causes such as postherpetic neuralgia.
Treatment includes medication or surgery. The anticonvulsant carbamazepine or oxcarbazepine is usually the initial treatment, and is effective in about 80% of people. Other options include lamotrigine, baclofen, gabapentin, and pimozide. Amitriptyline may help with the pain, but opioids are not usually effective in the typical form. In those who do not improve or become resistant to other measures, a number of types of surgery may be tried.
It is estimated that 1 in 8,000 people per year develop trigeminal neuralgia. It usually begins in people over 50 years old, but can occur at any age. Women are more commonly affected than men. The condition was first described in detail in 1773 by John Fothergill.
What is Tropical spastic paraparesis?
Tropical spastic paraparesis (TSP), is a medical condition that causes weakness, muscle spasms, and sensory disturbance by human T-lymphotropic virus resulting in paraparesis, weakness of the legs. As the name suggests, it is most common in tropical regions, including the Caribbean. Blood transfusion products are screened for HTLV-1 antibodies, as a preventive measure.
What is Trypanosomiasis?
African trypanosomiasis, also known as African sleeping sickness or simply sleeping sickness, is an insect-borne parasitic infection of humans and other animals. It is caused by the species Trypanosoma brucei. Humans are infected by two types, Trypanosoma brucei gambiense (TbG) and Trypanosoma brucei rhodesiense (TbR). TbG causes over 98% of reported cases. Both are usually transmitted by the bite of an infected tsetse fly and are most common in rural areas.
What is Tuberous sclerosis?
Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin.
What is Unverricht–Lundborg disease?
Unverricht-Lundborg disease (ULD) is an inherited form of progressive myoclonus epilepsy, a neurodegenerative disorder. Signs and symptoms typically begin during childhood or adolescence and worsen over time. Early symptoms include involuntary muscle jerking or twitching (stimulus-sensitive myoclonus) and tonic-clonic seizures.
What is Vestibular schwannoma?
What is vestibular schwannoma? A type of schwannoma called vestibular schwannoma (or acoustic neuroma) affects the nerve that connects the brain to the inner ear, which can affect your sense of balance. Although schwannomas do not spread, they can grow large enough to press down on important structures in the brain (including the brain stem).
What is Viliuisk encephalomyelitis?
Viliuisk encephalomyelitis (VE) is a neurodegenerative disorder expressed as subacute meningo-encephalitis progressing to a more prolonged pan-encephalitic syndrome with a fatal outcome within 1 to 10 years. Some patients survive to a steady state of global dementia and severe spasticity that may last for over 20 years.
What is Visual Snow?
Visual snow (VS) is the persisting visual symptom of seeing snow or television-like static across their visual field. The snow and static tend to be worse in the dark, but can be seen in all lighting conditions. VS should not be confused with normal entoptic phenomena or vitreous floaters.
What is Von Hippel–Lindau disease?
Von Hippel–Lindau disease (VHL), also known as Von Hippel–Lindau syndrome, is a rare genetic disorder with multisystem involvement. It is characterized by visceral cysts and benign tumors with potential for subsequent malignant transformation. It is a type of phakomatosis that results from a mutation in the Von Hippel–Lindau tumor suppressor gene on chromosome 3p25.3. Signs and symptoms associated with VHL disease include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems, and high blood pressure. Conditions associated with VHL disease include angiomatosis, hemangioblastomas, pheochromocytoma, renal cell carcinoma, pancreatic cysts (pancreatic serous cystadenoma), endolymphatic sac tumor, and bilateral papillary cystadenomas of the epididymis (men) or broad ligament of the uterus (women). Angiomatosis occurs in 37.2% of patients presenting with VHL disease and usually occurs in the retina. As a result, loss of vision is very common. However, other organs can be affected: strokes, heart attacks, and cardiovascular disease are common additional symptoms. Approximately 40% of VHL disease presents with CNS hemangioblastomas and they are present in around 60-80%. Spinal hemangioblastomas are found in 13-59% of VHL disease and are specific because 80% are found in VHL disease. Although all of these tumours are common in VHL disease, around half of cases present with only one tumour type.
What is Wallenberg’s syndrome?
Wallenberg’s syndrome is a neurological condition caused by a stroke in the vertebral or posterior inferior cerebellar artery of the brain stem. Symptoms include difficulties with swallowing, hoarseness, dizziness, nausea and vomiting, rapid involuntary movements of the eyes (nystagmus), and problems with balance and gait coordination.
What is Werdnig–Hoffmann disease?
Some infants with spinal muscular atrophy type 0 also have heart defects that are present from birth (congenital). Spinal muscular atrophy type I (also called Werdnig-Hoffmann disease) is the most common form of the condition. It is a severe form of the disorder with muscle weakness evident at birth or within the first few months of life.
What is Wernicke’s encephalopathy?
Wernicke encephalopathy (WE), also Wernicke’s encephalopathy is the presence of neurological symptoms caused by biochemical lesions of the central nervous system after exhaustion of B-vitamin reserves, in particular thiamine (vitamin B1). The condition is part of a larger group of thiamine deficiency disorders, that includes beriberi in all its forms, and alcoholic Korsakoff syndrome. When it occurs simultaneously with alcoholic Korsakoff syndrome it is known as Wernicke–Korsakoff syndrome. Classically, Wernicke encephalopathy is characterised by the triad – ophthalmoplegia, ataxia, and confusion. Around 10% of patients exhibit all three features, and other symptoms may also be present. While it is commonly regarded as a condition peculiar to malnourished people with alcohol misuse, it can be caused by a variety of diseases. It is treated with thiamine supplementation, which can lead to improvement of the symptoms and often complete resolution, particularly in those where alcohol misuse is not the underlying cause. Often other nutrients also need to be replaced, depending on the cause.
What is West syndrome?
West syndrome, also known as infantile spasm, is a very uncommon epileptic seizure disease that was first described by Dr. W. West (in 1841) in his own son. Who gets West syndrome? West Syndrome is an age-related disease in infants. Symptoms of the syndrome appear between 3 and 12 months of age, usually occurring at the fifth month. Epileptic spasms, is an uncommon-to-rare epileptic disorder in infants, children and adults. It is named after the English physician, William James West (1793–1848), who first described it in an article published in The Lancetin 1841. The original case actually described his own son, James Edwin West (1840–1860). Other names for it are “generalized flexion epilepsy”, “infantile epileptic encephalopathy”, “infantile myoclonic encephalopathy”, “jackknife convulsions”, “massive myoclonia” and “Salaam spasms”.
What is Whiplash injury?
Whiplash is a neck injury due to forceful, rapid back-and-forth movement of the neck, like the cracking of a whip. Whiplash most often occurs during a rear-end auto accident, but the injury can also result from a sports accident, physical abuse or other trauma. Common signs and symptoms of whiplash include neck pain, stiffness and headaches. Most people with whiplash get better within a few weeks by following a treatment plan that includes pain medication and exercise. Whiplash, also called neck sprain or neck strain, is injury to the neck. Whiplash is characterized by a collection of symptoms that occur following damage to the neck. In whiplash, the intervertebral joints (located between vertebrae), discs, and ligaments, cervical muscles, and nerve roots may become damaged.
What is Williams syndrome?
Williams syndrome (WS) is a genetic disorder that affects many parts of the body. Facial features frequently include a broad forehead, short nose and full cheeks, an appearance that has been described as “elfin”. While mild to moderate intellectual disability with particular problems with visual spatial tasks such as drawing is typical, verbal skills are generally relatively unaffected.
What is Wilson’s disease?
Wilson’s disease is a genetic disorder in which excess copper builds up in the body. Symptoms are typically related to the brain and liver. Liver-related symptoms include vomiting, weakness, fluid build-up in the abdomen, swelling of the legs, yellowish skin and itchiness.
What is Y-Linked hearing impairment?
Hearing impairment was tracked in one specific family and through seven generations all males were affected by this trait. However, this trait occurs rarely and has not been entirely resolved.
Zellweger syndrome is one of three peroxisome biogenesis disorders which belong to the Zellweger spectrum of peroxisome biogenesis disorders (PBD-ZSD). The other two disorders are neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD). Although all have a similar molecular basis for disease, Zellweger syndrome is the most severe of these three disorders.
Zellweger syndrome is associated with impaired neuronal migration, neuronal positioning, and brain development. In addition, individuals with Zellweger syndrome can show a reduction in central nervous system (CNS) myelin (particularly cerebral), which is referred to as hypomyelination. Myelin is critical for normal CNS functions, and in this regard, serves to insulate nerve fibers in the brain. Patients can also show post developmental sensorineural degeneration that leads to a progressive loss of hearing and vision.
Zellweger syndrome can also affect the function of many other organ systems. Patients can show craniofacial abnormalities (such as a high forehead, hypoplastic supraorbital ridges, epicanthal folds, midface hypoplasia, and a large fontanel), hepatomegaly (enlarged liver), chondrodysplasia punctata (punctate calcification of the cartilage in specific regions of the body), eye abnormalities, and renal cysts. New-borns may present with profound hypotonia (low muscle tone), seizures, apnea, and an inability to eat.
What is AIDS – neurological manifestations?
Untreated HIV / AIDS can cause significant weight loss, often accompanied by diarrhoea, chronic weakness and fever. Neurological complications. HIV can cause neurological symptoms such as confusion, forgetfulness, depression, anxiety and difficulty walking.
What is Akinetopsia?
Akinetopsia, also known as cerebral akinetopsia or motion blindness, is a neuropsychological disorder in which a patient cannot perceive motion in their visual field, despite being able to see stationary objects without issue. There are varying degrees of akinetopsia: from seeing motion as frames of a cinema reel to an inability to discriminate any motion. There is currently no effective treatment or cure for akinetopsia.
What is Alcoholism?
Alcoholism, also known as alcohol use disorder (AUD), is, broadly, any drinking of alcohol that results in mental or physical health problems. The disorder was previously divided into two types: alcohol abuse and alcohol dependence.
What is Allan–Herndon–Dudley syndrome?
It is estimated that 80–99% of people with Allan-Herndon-Dudley syndrome will have biparietal narrowing, ataxia, abnormalities of the neck, and both absent speech development and aphasia. Weak muscle tone and underdevelopment of many muscles are common in children with Allan-Herndon-Dudley syndrome. Development of joint deformities called contractures, which restrict the movement of certain joints, are common as people age. Mobility is further limited by abnormal muscle stiffness.
What is Alternating hemiplegia of childhood?
Alternating hemiplegia of childhood is a neurological condition characterized by recurrent episodes of temporary paralysis, often affecting one side of the body (hemiplegia). During some episodes, the paralysis alternates from one side of the body to the other or affects both sides at the same time.
What is Alzheimer’s disease?
The most common early symptom is difficulty in remembering recent events. As the disease advances, symptoms can include problems with language, disorientation (including easily getting lost), mood swings, loss of motivation, not managing self-care, and behavioural issues. As a person’s condition declines, they often withdraw from family and society. Gradually, bodily functions are lost, ultimately leading to death. Although the speed of progression can vary, the typical life expectancy following diagnosis is three to nine years.
The cause of Alzheimer’s disease is poorly understood. About 70% of the risk is believed to be inherited from a person’s parents, with many genes usually involved. Other risk factors include a history of head injuries, depression, and hypertension. The disease process is associated with plaques and neurofibrillary tangles in the brain. A probable diagnosis is based on the history of the illness and cognitive testing with medical imaging and blood tests to rule out other possible causes. Initial symptoms are often mistaken for normal ageing. Examination of brain tissue is needed for a definite diagnosis. Mental and physical exercise, and avoiding obesity may decrease the risk of AD; however, evidence to support these recommendations is weak. There are no medications or supplements that have been shown to decrease risk.
No treatments stop or reverse its progression, though some may temporarily improve symptoms. Affected people increasingly rely on others for assistance, often placing a burden on the caregiver. The pressures can include social, psychological, physical, and economic elements. Exercise programs may be beneficial with respect to activities of daily living and can potentially improve outcomes
What is Amaurosis fugax?
Amaurosis fugax is a condition in which a person cannot see out of one or both eyes due to a lack of blood flow to the eye (s). The condition is a symptom of an underlying problem, such as a blood clot or insufficient blood flow to the blood vessels that supply the eye. The condition is a symptom of an underlying problem, such as a blood clot or insufficient blood flow to the blood vessels that supply the eye. Other names for amaurosis fugax include transient monocular blindness, transient monocular visual loss, or temporary visual loss.
What is Amnesia?
There are two main types of amnesia: retrograde amnesia and anterograde amnesia
. Retrograde amnesia is the inability to retrieve information that was acquired before a particular date, usually the date of an accident or operation. In some cases, the memory loss can extend back decades, while in others the person may lose only a few months of memory. Anterograde amnesia is the inability to transfer new information from the short-term store into the long-term store. People with anterograde amnesia cannot remember things for long periods of time. These two types are not mutually exclusive; both can occur simultaneously.
Case studies also show that amnesia is typically associated with damage to the medial temporal lobe. In addition, specific areas of the hippocampus (the CA1 region) are involved with memory. Amnesic patients also retain substantial intellectual, linguistic, and social skill despite profound impairments in the ability to recall specific information encountered in prior learning episodes.
What is Amyotrophic lateral sclerosis?
Amyotrophic lateral sclerosis (ALS), also known as motor neurone disease (MND) or Lou Gehrig’s disease, is a disease that causes the death of neurons controlling voluntary muscles. Some also use the term motor neuron disease for a group of conditions of which ALS is the most common.
What is Aneurysm?
Aneurysms can also be a nidus (starting point) for clot formation (thrombosis) and embolization. As an aneurysm increases in size, the risk of rupture increases, leading to uncontrolled bleeding. Although they may occur in any blood vessel, particularly lethal examples include aneurysms of the Circle of Willis in the brain, aortic aneurysms affecting the thoracic aorta, and abdominal aortic aneurysms. Aneurysms can arise in the heart itself following a heart attack, including both ventricular and atrial septal aneurysms. There are congenital atrial septal aneurysms, a rare heart defect.
What is Angelman syndrome?
Angelman syndrome or Angelman’s syndrome (AS) is a genetic disorder that mainly affects the nervous system. Symptoms include a small head and a specific facial appearance, severe intellectual disability, developmental disability, speaking problems, balance and movement problems, seizures, and sleep problems.
What is Aphantasia?
Aphantasia is a mental condition characterized by an inability to voluntarily visualize mental imagery. Many people with aphantasia also report an inability to recall sounds, smells, or sensations of touch. Some also report prosopagnosia, the inability to recognize faces.
What is Arachnoiditis?
Arachnoiditis is an inflammatory condition of the arachnoid mater or ‘arachnoid’, one of the membranes known as meninges that surround and protect the nerves of the central nervous system, including the brain and spinal cord. The arachnoid can become inflamed because of adverse reactions to chemicals, infection from bacteria or viruses, as the result of direct injury to the spine, chronic compression of spinal nerves, complications from spinal surgery or other invasive spinal procedures, or the accidental intrathecal injection of steroids intended for the epidural space.
What is Arnold–Chiari malformation?
Chiari malformation (CM) is a structural defect in the cerebellum, characterized by a downward displacement of one or both cerebellar tonsils through the foramen magnum (the opening at the base of the skull). CMs can cause headaches, difficulty swallowing, vomiting, dizziness, neck pain, unsteady gait, poor hand coordination, numbness and tingling of the hands and feet, and speech problems. Less often, people may experience ringing or buzzing in the ears, weakness, slow heart rhythm, or fast heart rhythm, curvature of the spine (scoliosis) related to spinal cord impairment, abnormal breathing, such as central sleep apnea, characterized by periods of breathing cessation during sleep, and, in severe cases, paralysis.
This can sometimes lead to non-communicating hydrocephalus as a result of obstruction of cerebrospinal fluid (CSF) outflow. The cerebrospinal fluid outflow is caused by phase difference in outflow and influx of blood in the vasculature of the brain. The malformation is named for Austrian pathologist Hans Chiari. A type II CM is also known as an Arnold–Chiari malformation in honour of Chiari and German pathologist Julius Arnold.
What is Ataxia?
Ataxia describes a lack of muscle control or coordination of voluntary movements, such as walking or picking up objects. A sign of an underlying condition, ataxia can affect various movements and create difficulties with speech, eye movement and swallowing.
Persistent ataxia usually results from damage to the part of your brain that controls muscle coordination (cerebellum). Many conditions can cause ataxia, including alcohol misuse, certain medication, stroke, tumour, cerebral palsy, brain degeneration and multiple sclerosis. Inherited defective genes also can cause the condition.
What is ATR-16 syndrome?
ATR-16 syndrome, also called Alpha-Thalassemia-Intellectual disability syndrome is a rare disease characterized by monosomy on part of chromosome 16.
What is Attention deficit hyperactivity disorder?
Attention deficit hyperactivity disorder (ADHD) is a mental disorder of the neurodevelopmental type. It is characterized by difficulty paying attention, excessive activity and acting without regards to consequences, which are otherwise not appropriate for a person’s age. Some individuals with ADHD also display difficulty regulating emotions.
What is Auditory processing disorder?
Auditory processing disorder (APD), rarely known as King-Kopetzky syndrome or auditory disability with normal hearing (ADN), is an umbrella term for a variety of disorders that affect the way the brain processes auditory information. Individuals with APD usually have normal structure and function of the outer, middle, and inner ear (peripheral hearing).
What is Behçet’s disease?
Behcet’s disease is a rare autoimmune disease. It causes damage to your blood vessels that can lead to sores in the mouth, rashes, and other symptoms. The severity of the disease varies from person to person. Behcet’s disease is a chronic condition. Symptoms may temporarily go into remission, only to return at a later time.
What is Bell’s palsy?
Bell’s palsy is a type of facial paralysis that results in a temporary inability to control the facial muscles on the affected side of the face. Symptoms can vary from mild to severe. They may include muscle twitching, weakness, or total loss of the ability to move one, and in rare cases, both sides of the face.
What is Blindsight?
Blindsight is the ability of people who are cortically blind due to lesions in their striate cortex, also known as the primary visual cortex or V1, to respond to visual stimuli that they do not consciously see. The majority of studies on blindsight are conducted on patients who have the conscious blindness on only one side of their visual field. Following the destruction of the striate cortex, patients are asked to detect, localize, and discriminate amongst visual stimuli that are presented to their blind side, often in a forced-response or guessing situation, even though they do not consciously recognize the visual stimulus. Blindsight challenges the common belief that perceptions must enter consciousness to affect our behaviour; showing that our behaviour can be guided by sensory information of which we have no conscious awareness. It may be thought of as a converse of the form of anosognosia known as Anton–Babinski syndrome, in which there is full cortical blindness along with the confabulation of visual experience.
What is Brachial plexus injury?
Brachial plexus injuries can occur as a result of shoulder trauma, tumours, or inflammation. The rare Parsonage–Turner syndrome causes brachial plexus inflammation without obvious injury, but with nevertheless disabling symptoms. But in general, brachial plexus injury can be classified as either traumatic or obstetric. Obstetric injuries may occur from mechanical injury involving shoulder dystocia during difficult childbirth. Traumatic injury may arise from several causes. “The brachial plexus may be injured by falls from a height on to the side of the head and shoulder, whereby the nerves of the plexus are violently stretched. The brachial plexus may also be injured by direct violence or gunshot wounds, by violent traction on the arm, or by efforts at reducing a dislocation of the shoulder joint”.
What are the signs and symptoms of Brain tumour?
The signs and symptoms of a brain tumour vary greatly and depend on the brain tumour’s size, location and rate of growth. General signs and symptoms caused by brain tumors may include: 1. New onset or change in pattern of headaches 2. Headaches that gradually become more frequent and more severe 3. Unexplained nausea or vomiting 4. Vision problems, such as blurred vision, double vision or loss of peripheral vision 5. Gradual loss of sensation or movement in an arm or a leg 6. Difficulty with balance.
What is Brody myopathy?
Brody myopathy, is a rare disorder that affects skeletal muscle function. BD was first characterized in 1969 by Dr. Irwin A. Brody at Duke University Medical Center. Individuals with BD have difficulty relaxing their muscles after exercise. This difficulty in relaxation leads to symptoms including cramps, stiffness, and discomfort in the muscles of the limbs and face. Symptoms are heightened by exercise and commonly progress in severity throughout adulthood.
What is Canavan disease?
Canavan disease is an autosomal recessive degenerative disorder that causes progressive damage to nerve cells in the brain, and is one of the most common degenerative cerebral diseases of infancy. It is caused by a deficiency of the enzyme aminoacylase 2, and is one of a group of genetic diseases referred to as leukodystrophies. It is characterized by degeneration of myelin in the phospholipid layer insulating the axon of a neuron and is associated with a gene located on human chromosome 17. Symptoms of the most common (and most serious) form of Canavan disease typically appear in early infancy usually between the first three to six months of age. Canavan disease then progresses rapidly from that stage, with typical cases involving intellectual disability, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone (i.e., initial floppiness – hypotonia – that may eventually translate into spasticity), poor head control, and megalocephaly (abnormally enlarged head). Paralysis, blindness, or seizures may also occur.
There exists a much less common variant of Canavan disease which is generally much less serious, and involves later onset of symptoms, which are often mild and nonspecific enough to go unrecognized as manifestations of Canavan’s disease. This variant does not seem to have any effect on lifespan, and is typically limited to minor cases of speech and motor skill development delay.
What is Capgras delusion?
The Capgras delusion is classified as a delusional misidentification syndrome, a class of delusional beliefs that involves the misidentification of people, places, or objects. It can occur in acute, transient, or chronic forms. Cases in which patients hold the belief that time has been “warped” or “substituted” have also been reported
What is Carpal tunnel syndrome?
Carpal tunnel syndrome (CTS) is a medical condition due to compression of the median nerve as it travels through the wrist at the carpal tunnel. The main symptoms are pain, numbness and tingling in the thumb, index finger, middle finger and the thumb side of the ring finger. Symptoms of carpal tunnel syndrome may include: Numbness, tingling, burning, and pain—primarily in the thumb and index, middle, and ring fingers. Occasional shock-like sensations that radiate to the thumb and index, middle, and ring fingers. Pain or tingling that may travel up the forearm toward the shoulder
What is Causalgia?
It is a constant usually burning pain that results from injury to a peripheral nerve and is often considered a type of complex regional pain syndrome
What is Central pain syndrome?
The disorder can occur in people who have — or who have experienced — strokes, multiple sclerosis, Parkinson’s disease, brain tumors, limb amputations, brain injuries, or spinal cord injuries. It may develop months or years after injury or damage to the CNS.
What is Central pontine myelinolysis?
Central pontine myelinolysis (CPM) is a neurological disorder that most frequently occurs after too rapid medical correction of sodium deficiency (hyponatremia). The rapid rise in sodium concentration is accompanied by the movement of small molecules and pulls water from brain cells.
What is Centronuclear myopathy?
Centronuclear myopathies (CNM) are a group of congenital myopathies where cell nuclei are abnormally located in the center of skeletal muscle cells instead of their normal location at the periphery. Symptoms of CNM include severe hypotonia, hypoxia -requiring breathing assistance, and scaphocephaly
What is Cephalic disorder?
Some cephalic disorders occur when the cranial sutures (the fibrous joints that connect the bones of the skull) join prematurely. Most cephalic disorders are caused by a disturbance that occurs very early in the development of the foetal nervous system.
The human nervous system develops from a small, specialized plate of cells on the surface of the embryo. Early in development, this plate of cells forms the neural tube, a narrow sheath that closes between the third and fourth weeks of pregnancy to form the brain and spinal cord of the embryo. Four main processes are responsible for the development of the nervous system: cell proliferation, the process in which nerve cells divide to form new generations of cells; cell migration, the process in which nerve cells move from their place of origin to the place where they will remain for life; cell differentiation, the process during which cells acquire individual characteristics; and cell death, a natural process in which cells die.
Damage to the developing nervous system is a major cause of chronic, disabling disorders and, sometimes, death in infants, children, and even adults. The degree to which damage to the developing nervous system harms the mind and body varies enormously. Many disabilities are mild enough to allow those affected to eventually function independently in society. Others are not. Some infants, children, and adults die, others remain totally disabled, and an even larger population is partially disabled, functioning well below normal capacity throughout life.
What is Cerebral aneurysm?
Intracranial aneurysm, also known as brain aneurysm, is a cerebrovascular disorder in which weakness in the wall of a cerebral artery or vein causes a localized dilation or ballooning of the blood vessel. Aneurysms in the posterior circulation (basilar artery, vertebral arteries and posterior communicating artery) have a higher risk of rupture. Basilar artery aneurysms represent only 3–5% of all intracranial aneurysms but are the most common aneurysms in the posterior circulation.
What is Cerebral arteriosclerosis?
Symptoms of cerebral arteriosclerosis include headache, facial pain, and impaired vision. Cerebral arteriosclerosis can lead to life threatening health events such as ischemic or Hemorrhagic strokes. [imedpub.com] The symptoms of cerebral arteriosclerosis include headache, facial pain, and impaired vision
What is Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy?
CADASIL or CADASIL syndrome, involving cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, is the most common form of hereditary stroke disorder, and is thought to be caused by mutations of the Notch 3 gene on chromosome 19. The disease belongs to a family of disorders called the leukodystrophies. The most common clinical manifestations are migraine headaches and transient ischemic attacks or strokes, which usually occur between 40 and 50 years of age.
What is Cerebral dysgenesis–neuropathy–ichthyosis–keratoderma syndrome?
CEDNIK syndrome is a rare congenital condition that presents as severe developmental failure of the nervous system and the epidermis. Clinical manifestations include microcephaly, cerebral dysgenesis, facial dysmorphism, palmoplantar keratoderma, and ichthyosis.
These children usually have a normal intrauterine life and normal birth. The first symptoms to appear are abnormal eye movements, poor head and trunk control and failure to thrive.
What is Cerebral gigantism?
Children with Sotos syndrome tend to be large at birth and are often taller, heavier, and have relatively large skulls (macrocephaly) than is normal for their age. Signs of the disorder, which vary among individuals, include a disproportionately large skull with a slightly protrusive forehead, large hands and feet, large mandible, hypertelorism (an abnormally increased distance between the eyes), and down slanting eyes. Clumsiness, an awkward gait, and unusual aggressiveness or irritability may also occur. Although most cases of Sotos syndrome occur sporadically, familial cases have also been reported. It is similar to Weaver syndrome.
What is Cerebral palsy?
Cerebral palsy is a group of disorders that affect movement and muscle tone or posture. It’s caused by damage that occurs to the immature brain as it develops, most often before birth. Signs and symptoms appear during infancy or preschool years. In general, cerebral palsy causes impaired movement associated with abnormal reflexes, floppiness or rigidity of the limbs and trunk, abnormal posture, involuntary movements, unsteady walking, or some combination of these.
What is Cerebral vasculitis?
Cerebral vasculitis (sometimes the word angiitis is used instead of “vasculitis”) is vasculitis (inflammation of the blood vessel wall) involving the brain and occasionally the spinal cord. It affects all of the vessels: very small blood vessels (capillaries), medium-size blood vessels (arterioles and venules), or large blood vessels (arteries and veins). Major symptoms of cerebral vasculitis are stroke, headache and encephalopathy. Diagnosis is based on laboratory and imaging findings. When cerebral affection occurs in systemic vasculitis an acute inflammatory response with raised erythrocyte sedimentation rate and increased values of C-reactive protein is present.
What is Cerebrospinal fluid leak?
A cerebrospinal fluid leak (CSF leak) is a medical condition where the cerebrospinal fluid (CSF) surrounding the brain or spinal cord leaks out of one or more holes or tears in the dura mater. A cerebrospinal fluid leak can be either cranial or spinal, and these are two different disorders. A spinal CSF leak can be caused by one or more meningeal diverticula or CSF-venous fistulas not associated with an epidural leak.
What is Cervical spinal stenosis?
Spinal stenosis is a narrowing of the spaces within your spine, which can put pressure on the nerves that travel through the spine. Spinal stenosis occurs most often in the lower back and the neck. Some people with spinal stenosis may not have symptoms. Others may experience pain, tingling, numbness and muscle weakness. Symptoms can worsen over time. Spinal stenosis is most commonly caused by wear-and-tear changes in the spine related to osteoarthritis.
What is Charcot–Marie–Tooth disease?
Symptoms of CMT usually begin in early childhood or early adulthood, but can begin later. Some people do not experience symptoms until their early 30s or 40s. Usually, the initial symptom is foot drop early in the course of the disease. This can also cause hammer toe, where the toes are always curled. Wasting of muscle tissue of the lower parts of the legs may give rise to a “stork leg” or “inverted champagne bottle” appearance. Weakness in the hands and forearms occurs in many people as the disease progresses.
Loss of touch sensation in the feet, ankles, and legs, as well as in the hands, wrists, and arms occurs with various types of the disease. Early- and late-onset forms occur with ‘on and off’ painful spasmodic muscular contractions that can be disabling when the disease activates. High-arched feet (pes cavus) or flat-arched feet (pes planus) are classically associated with the disorder. Sensory and proprioceptive nerves in the hands and feet are often damaged, while unmyelinated pain nerves are left intact. Overuse of an affected hand or limb can activate symptoms including numbness, spasm, and painful cramping.
Symptoms and progression of the disease can vary. Involuntary grinding of teeth and squinting are prevalent, and often go unnoticed by the person affected. Breathing can be affected in some, as can hearing, vision, and neck and shoulder muscles. Scoliosis is common, causing hunching and loss of height. Hip sockets can be malformed. Gastrointestinal problems can be part of CMT, as can difficulty chewing, swallowing, and speaking (due to atrophy of vocal cords). A tremor can develop as muscles waste. Pregnancy has been known to exacerbate CMT, as well as severe emotional stress.
What is Chiari malformation?
Chiari malformation (CM) is a structural defect in the cerebellum, characterized by a downward displacement of one or both cerebellar tonsils through the foramen magnum (the opening at the base of the skull). CMs can cause headaches, difficulty swallowing, vomiting, dizziness, neck pain, unsteady gait, poor hand coordination, numbness and tingling of the hands and feet, and speech problems. Less often, people may experience ringing or buzzing in the ears, weakness, slow heart rhythm, or A fast heart rhythm.
What is Chronic fatigue syndrome?
Chronic fatigue syndrome (CFS) is a complicated disorder characterized by extreme fatigue that can’t be explained by any underlying medical condition. The fatigue may worsen with physical or mental activity, but doesn’t improve with rest. This condition is also known as systemic exertion intolerance disease (SEID) or myalgic encephalomyelitis (ME). Sometimes it’s abbreviated as ME/CFS
What is Chronic inflammatory demyelinating polyneuropathy?
Chronic inflammatory demyelinating polyneuropathy is an acquired immune-mediated inflammatory disorder of the peripheral nervous system. The disorder is sometimes called chronic relapsing polyneuropathy (CRP) or chronic inflammatory demyelinating polyradiculoneuropathy (because it involves the nerve roots). CIDP is closely related to Guillain–Barré syndrome and it is considered the chronic counterpart of that acute disease. Its symptoms are also similar to progressive inflammatory neuropathy.
What is Chronic pain?
Chronic pain is pain that lasts a long time. In medicine, the distinction between acute and chronic pain is sometimes determined by the amount of time since onset. Two commonly used markers are pain that continues at 3 months and 6 months since onset, but some theorists and researchers have placed the transition from acute to chronic pain at 12 months.
What is Cluster Headache?
Cluster headaches, which occur in cyclical patterns or cluster periods, are one of the most painful types of headache. A cluster headache commonly awakens you in the middle of the night with intense pain in or around one eye on one side of your head. Bouts of frequent attacks, known as cluster periods, can last from weeks to months, usually followed by remission periods when the headaches stop.
What is Cockayne syndrome?
Cockayne syndrome (CS), also called Neill-Dingwall syndrome, is a rare and fatal autosomal recessive neurodegenerative disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), eye disorders and premature aging.
What is Coffin–Lowry syndrome?
Coffin–Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental problems sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoliosis, as well as auditory and visual abnormalities.
What is Complex regional pain syndrome?
Complex regional pain syndrome (CRPS) is a form of chronic pain that usually affects an arm or a leg. CRPS typically develops after an injury, a surgery, a stroke or a heart attack. The pain is out of proportion to the severity of the initial injury. CRPS is uncommon, and its cause isn’t clearly understood. Treatment is most effective when started early. In such cases, improvement and even remission are possible
What is Compression neuropathy?
Nerve compression syndrome or compression neuropathy, is a medical condition caused by direct pressure on a nerve. It is known colloquially as a trapped nerve, though this may also refer to nerve root compression (by a herniated disc, for example).
What is Congenital distal spinal muscular atrophy?
Congenital distal spinal muscular atrophy is a hereditary condition characterized by muscle wasting (atrophy), particularly of distal muscles in legs and hands, and by early-onset contractures (permanent shortening of a muscle or joint) of the hip, knee, and ankle. Affected individuals often have shorter lower limbs relative to the trunk and upper limbs. The condition is a result of a loss of anterior horn cells localized to lumbar and cervical regions of the spinal cord early in infancy, which in turn is caused by a mutation of the TRPV4 gene. The disorder is inherited in an autosomal dominant manner. Arm muscle and function, as well as cardiac and respiratory functions are typically well preserved.
What is Congenital facial diplegia?
Möbius syndrome is a rare congenital neurological disorder which is characterized by facial paralysis and the inability to move the eyes from side to side. Most people with Möbius syndrome are born with complete facial paralysis and cannot close their eyes or form facial expressions.
What is Corticobasal degeneration?
Corticobasal degeneration is a rare disease in which areas of your brain shrink and your nerve cells degenerate and die over time. The disease affects the area of the brain that processes information and brain structures that control movement. This degeneration results in growing difficulty in movement on one or both sides of your body. The condition may cause you to have poor coordination and stiffness. Signs and symptoms of Corticobasal degeneration include: 1. Difficulty moving on one or both sides of the body, which gets worse over time 2. Poor coordination 3. Trouble with balance 4. Stiffness 5. Abnormal postures of the hands or feet, such as a hand forming a clenched fist 6. Muscle jerks 7. Difficulty swallowing 8. Abnormal eye movements 9. Trouble with thinking, speech and language Corticobasal degeneration progresses over six to eight years.
What is Cranial arteritis?
Giant cell arteritis (GCA), also called temporal arteritis, is an inflammatory disease of large blood vessels. Symptoms may include headache, pain over the temples, flu-like symptoms, double vision, and difficulty opening the mouth. Complication can include blockage of the artery to the eye with resulting blindness, aortic dissection, and aortic aneurysm. GCA is frequently associated with polymyalgia rheumatica. The cause is unknown
What is Craniosynostosis?
Craniosynostosis is a condition in which one or more of the fibrous sutures in an infant (very young) skull prematurely fuses by turning into bone (ossification), thereby changing the growth pattern of the skull. Because the skull cannot expand perpendicular to the fused suture, it compensates by growing more in the direction parallel to the closed sutures. Sometimes the resulting growth pattern provides the necessary space for the growing brain, but results in an abnormal head shape
What is Creutzfeldt–Jakob disease?
Creutzfeldt–Jakob disease (CJD), also known as classic Creutzfeldt–Jakob disease or Neurocognitive Disorder due to Prion Disease, is a fatal degenerative brain disorder. Early symptoms include memory problems, behavioural changes, poor coordination, and visual disturbances.
What is Cumulative trauma disorders?
A cumulative trauma disorder, also known as CTD, is defined as the excessive wear and tear on tendons, muscles and sensitive nerve tissue caused by continuous use over an extended period of time. CTDs can develop from improper work positioning, repetition or force. Millions of Americans work in front of computers every day.
What is Cushing’s syndrome?
Cushing’s syndrome is the collection of signs and symptoms due to prolonged exposure to glucocorticoids such as cortisol. Signs and symptoms may include high blood pressure, abdominal obesity but with thin arms and legs, reddish stretch marks, a round red face, a fat lump between the shoulders, weak muscles, weak bones, acne, and fragile skin that heals poorly.
What is Cyclic vomiting syndrome?
Cyclic vomiting syndrome (CVS) is a chronic functional condition of unknown pathogenesis. CVS is characterized as recurring episodes lasting a single day to multiple weeks. Each episode is divided into four phases: inter-episodic, prodrome, vomiting, and recovery. Inter-episodic phase (symptom free phase), is characterized as no discernible symptoms, normal everyday activities can occur, and this phase typically lasts one week to one month. The prodrome phase is known as the pre-emetic phase,
What is Cyclothymic disorder?
Cyclothymia, also known as cyclothymic disorder, is a mental disorder that involves numerous periods of symptoms of depression and periods of symptoms of hypomania. These symptoms, however, are not sufficient to be a major depressive episode or a hypomanic episode. Symptoms must last for more than one year in children and two years in adults.
What is Cytomegalic inclusion body disease?
Cytomegalic inclusion body disease (CIBD) also known as cytomegalic inclusion disease (CID) is a series of signs and symptoms caused by cytomegalovirus infection, toxoplasmosis or other rare infections such as herpes or rubella viruses. It can produce massive calcification of the central nervous system, and often the kidneys. Cytomegalic inclusion body disease (CIBD) is a condition caused by infection with cytomegalovirus (CMV), a type of herpes virus. A hallmark of CIBD is the periodic reappearance of symptoms throughout life, as the virus cycles through periods of latency and active infection. Cytomegalic inclusion body disease is the most common cause of congenital abnormalities in the United States. It can also cause pneumonia and other diseases in immunocompromised patients, such as those with HIV/AIDS or recipients of organ transplants.
What is Cytomegalovirus Infection?
Cytomegalovirus (CMV) is a common virus. Once infected, your body retains the virus for life. Most people don’t know they have CMV because it rarely causes problems in healthy people. If you’re pregnant or if your immune system is weakened, CMV is cause for concern. Women who develop an active CMV infection during pregnancy can pass the virus to their babies, who might then experience symptoms
What is Dandy–Walker syndrome?
Dandy–Walker malformation (DWM), also known as Dandy–Walker syndrome (DWS), is a rare congenital brain malformation in which the part joining the two hemispheres of the cerebellum (the cerebellar vermis) does not fully form, and the fourth ventricle and space behind the cerebellum (the posterior fossa) are enlarged with cerebrospinal fluid.
What is Dawson disease?
Subacute sclerosing panencephalitis (SSPE)—also known as Dawson disease—is a rare form of chronic progressive brain inflammation caused by slow infection with certain defective strains of hypermutated measles virus. The condition primarily affects children, teens, and young adults.
What is De Morsier’s syndrome?
De Morsier’s syndrome is a rare disorder, present at birth, in which the optic nerve is underdeveloped (called “optic nerve hypoplasia” or “ONH”). The pituitary gland does not function properly, and often a portion of brain tissue is not formed.
What is Dejerine–Klumpke palsy?
Klumpke palsy – a type of brachial birth palsy in which there is paralysis of the muscles of the distal forearm and hand.
What is Dejerine–Sottas disease?
Dejerine-Sottas syndrome (DSS) is an inherited neurological condition that gradually affects the ability to move. Peripheral nerves are the nerves outside of the brain and spinal cord. These nerves become enlarged or thickened leading to muscle weakness.
What is Devic’s disease?
A demyelinative disease of the optic nerve, the optic chiasma and the spinal cord characterized by a bilateral acute optic neuritis with a transverse inflammation of the spinal cord. Loss of visual acuity occurs very rapidly and is accompanied by ascending paralysis. There is no treatment for this disease.
What is Delayed sleep phase disorder or syndrome?
Delayed sleep phase officially known as delayed sleep-wake phase sleep disorder — is an internal sleep clock (circadian rhythm) sleep disorder in which your sleep pattern is delayed two hours or more from a conventional sleep pattern, causing you to go to sleep later and wake up later.
What is Dermatomyositis?
Dermatomyositis is an uncommon inflammatory disease marked by muscle weakness and a distinctive skin rash. The condition can affect adults and children. In adults, dermatomyositis usually occurs from the late 40s to early 60s. In children, it most often appears between 5 and 15 years of age. Dermatomyositis affects more females than males. There’s no cure for dermatomyositis, but periods of symptom improvement (remission) can occur.
What is Developmental coordination disorder?
Developmental coordination disorder (DCD), also known as developmental motor coordination disorder, developmental dyspraxia or simply dyspraxia, is a chronic neurological disorder beginning in childhood. It is also known to affect planning of movements and co-ordination as a result of brain messages not being accurately transmitted to the body.
What is Diabetic neuropathy?
Diabetic neuropathy refers to various types of nerve damage associated with diabetes mellitus. Symptoms depend on the site of nerve damage and can include motor changes such as weakness; sensory symptoms such as numbness, tingling, or pain; or autonomic changes such as urinary symptoms. These changes are thought to result from microvascular injury involving small blood vessels that supply nerves (vasa nervorum)
What is Diffuse sclerosis?
Diffuse scleroderma is a type of systemic sclerosis (scleroderma). Systemic scleroderma can affect any part of the body. It often affects the skin, blood vessels, and internal organs, especially the lungs, heart, kidneys, and gastrointestinal tract. (Also see: Scleroderma Symptoms) It is generally distinguished from limited systemic scleroderma by more widespread skin involvement, meaning that the skin thickening may also spread to the upper limbs or torso
What is Diplopia?
Diplopia is the simultaneous perception of two images of a single object that may be displaced horizontally, vertically, diagonally (i.e., both vertically and horizontally), or rotationally in relation to each other. It is usually the result of impaired function of the extraocular muscles, where both eyes are still functional, but they cannot turn to target the desired object. Problems with these muscles may be due to mechanical problems, disorders of the neuromuscular junction, disorders of the cranial nerves (III, IV, and VI) that innervate the muscles, and occasionally disorders involving the supranuclear oculomotor pathways or ingestion of toxins.
What is Disorders of consciousness?
Disorders of consciousness are medical conditions that inhibit consciousness. Some define disorders of consciousness as any change from complete self-awareness to inhibited or absent self-awareness and arousal. This category generally includes minimally conscious state and persistent vegetative state, but sometimes also includes the less severe locked-in syndrome and more severe but rare chronic coma.
What is Distal hereditary motor neuropathy type V?
Distal hereditary motor neuropathy, type V is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects movement of the hands and feet. Symptoms of distal hereditary motor neuropathy, type V usually begin during adolescence, but onset varies from infancy to the mid-thirties.
What is Distal spinal muscular atrophy type 1?
Distal spinal muscular atrophy type 1 is inherited via an autosomal recessive manner. Distal spinal muscular atrophy type 1 (DSMA1), is a rare neuromuscular disorder involving death of motor neurons in the spinal cord which leads to a generalized progressive atrophy of body muscles.
What is Distal spinal muscular atrophy type 2?
Distal spinal muscular atrophy type 2 (DSMA2), also known as Jerash type distal hereditary motor neuropathy (HMN-J) — is a very rare childhood-onset genetic disorder characterised by progressive muscle wasting affecting lower and subsequently upper limbs.
What is Down syndrome?
Down syndrome (sometimes called Down’s syndrome) is a condition in which a child is born with an extra copy of their 21st chromosome — hence its other name, trisomy 21. This causes physical and mental developmental delays and disabilities.
What is Dravet syndrome?
Dravet syndrome has been characterized by prolonged febrile and non-febrile seizures within the first year of a child’s life. This disease progresses to other seizure types like myoclonic and partial seizures, psychomotor delay, and ataxia. It is characterized by cognitive impairment, behavioral disorders, and motor deficits. Behavioural deficits often include hyperactivity and impulsiveness, and in more rare cases, autistic-like behaviours. Dravet syndrome is also associated with sleep disorders including somnolence and insomnia. The seizures experienced by people with Dravet syndrome become worse as the patient ages, as the disease is not very observable when symptoms first appear. This coupled with the range of severity differing between each individual diagnosed and the resistance of these seizures to drugs has made it challenging to develop treatments.
Dravet syndrome appears during the first year of life, often beginning around six months of age with frequent febrile seizures (fever-related seizures). Children with Dravet syndrome typically experience a lagged development of language and motor skills, hyperactivity and sleep difficulties, chronic infection, growth and balance issues, and difficulty relating to others. The effects of this disorder do not diminish over time, and children diagnosed with Dravet syndrome require fully committed caretakers with tremendous patience and the ability to closely monitor them.
Febrile seizures are divided into two categories known as simple and complex. A febrile seizure would be categorized as complex if it has occurred within 24 hours of another seizure or if it lasts longer than 15 minutes. A febrile seizure lasting less than 15 minutes would be considered simple.
What is Duchenne muscular dystrophy?
Duchenne muscular dystrophy (DMD) is a severe type of muscular dystrophy that primarily affects boys. Muscle weakness usually begins around the age of four, and worsens quickly. Muscle loss typically occurs first in the thighs and pelvis followed by the arms.
What is Dysautonomia?
Dysautonomia or autonomic dysfunction is a condition in which the autonomic nervous system (ANS) does not work properly. This may affect the functioning of the heart, bladder, intestines, sweat glands, pupils, and blood vessels. Dysautonomia has many causes, not all of which may be classified as neuropathic. A number of conditions can feature dysautonomia, such as Parkinson’s disease, HIV/AIDS, multiple system atrophy, autonomic failure, postural orthostatic tachycardia syndrome, Ehlers-Danlos syndrome, autoimmune autonomic ganglionopathy, and autonomic neuropathy.
What is Empty sella syndrome?
Empty sella syndrome (ESS) is the condition when the pituitary gland shrinks or becomes flattened, filling the sella turcica with cerebrospinal fluid instead of the normal pituitary. ESS can be found in the diagnostic workup of pituitary disorders, or as an incidental finding when imaging the brain. If there are symptoms, people with empty sella syndrome can have headaches and vision loss. Additional symptoms would be associated with hypopituitarism. Additional symptoms are as follows:
Abnormality (middle ear ossicles)
Arnold-Chiari type I malformation
Patent ductus arteriosus
What is Encephalitis?
Encephalitis is inflammation of the brain. The severity can be variable with symptoms including headache, fever, confusion, a stiff neck, and vomiting. Complications may include seizures, hallucinations, trouble speaking, memory problems, and problems with hearing.
Causes of encephalitis include viruses such as herpes simplex virus and rabies as well as bacteria, fungi, or parasites. Other causes include autoimmune diseases and certain medications.
What is Encephalocele?
Encephalocele is a neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal development. Encephaloceles cause a groove down the middle of the skull, or between the forehead and nose, or on the back side of the skull. The severity of encephalocele varies, depending on its location.
What is Boxer’s Encephalopathy?
Boxer’s encephalopathy (boxer’s traumatic encephalopathy) a syndrome due to cumulative head blows absorbed in the boxing ring, characterized by slowing of mental function, occasional bouts of confusion, and scattered memory loss. It may progress to the more serious boxer’s dementia.
What is Encephalotrigeminal angiomatosis?
Sturge–Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital neurological and skin disorder. It is one of the phakomatoses and is often associated with port-wine stains of the face, glaucoma, seizures, intellectual disability, and ipsilateral leptomeningeal angioma (cerebral malformations and tumors).
What is Encopresis?
Encopresis is voluntary or involuntary passage of feces outside of toilet trained contexts (fecal soiling) in children who are four years or older and after an organic cause has been excluded. Children with encopresis often leak stool into their undergarments. This term is usually applied to children, and where the symptom is present in adults, it is more commonly known as fecal leakage (FL), fecal soiling or faecal seepage.
What is Enuresis?
Enuresis is more commonly known as bed-wetting. Nocturnal enuresis, or bed-wetting at night, is the most common type of elimination disorder. Daytime wetting is called diurnal enuresis. Some children experience either or a combination of both.
What is Epilepsy-intellectual disability in females?
Epilepsy-intellectual disability in females also known as PCDH19 gene-related epilepsy or epileptic encephalopathy, early infantile, 9 (EIEE9), is a rare type of epilepsy that affects predominately females and is characterized by clusters of brief seizures, which start in infancy or early childhood, and is occasionally accompanied by varying degrees of cognitive impairment.
What is Erb’s palsy?
Erb’s palsy or Erb–Duchenne palsy is a form of obstetric brachial plexus palsy. It occurs when there’s an injury to the brachial plexus, specifically the upper brachial plexus at birth. The injury can either stretch, rupture or avulse the roots of the plexus from the spinal cord. It is the most common birth related neuropraxia (about 48%).
What is Erythromelalgia?
Erythromelalgia, formerly known as Mitchell’s disease (after Silas Weir Mitchell), is a rare vascular peripheral pain disorder in which blood vessels, usually in the lower extremities or hands, are episodically blocked (frequently on and off daily), then become hyperaemic and inflamed. There is severe burning pain (in the small fiber sensory nerves) and skin redness. The attacks are periodic and are commonly triggered by heat, pressure, mild activity, exertion, insomnia or stress. Erythromelalgia may occur either as a primary or secondary disorder (i.e. a disorder in and of itself or a symptom of another condition). Secondary erythromelalgia can result from small fiber peripheral neuropathy of any cause, polycythaemia vera, essential thrombocytosis, hypercholesterolemia, mushroom or mercury poisoning, and some autoimmune disorders. Primary erythromelalgia is caused by mutation of the voltage-gated sodium channel α-subunit gene SCN9A.
What is Essential tremor?
Essential tremor (ET), also called benign tremor, familial tremor, and idiopathic tremor, is a medical condition characterized by involuntary rhythmic contractions and relaxations (oscillations or twitching movements) of certain muscle groups in one or more body parts of unknown cause. It typically is symmetrical, and affects the arms, hands, or fingers; but sometimes involves the head, vocal cords, or other body parts.
What is Exploding head syndrome?
Exploding head syndrome (EHS) is an abnormal sensory perception during sleep in which a person experiences unreal noises that are loud and of short duration when falling asleep or waking up. The noise may be frightening, typically occurs only occasionally, and is not a serious health concern. People may also experience a flash of light. Pain is typically absent.
The cause is unknown. Potential explanations include ear problems, temporal lobe seizure, nerve dysfunction.
What is Fabry’s disease?
Fabry disease, also known as Anderson–Fabry disease, is a rare genetic disease that can affect many parts of the body including the kidneys, heart, and skin. Fabry disease is one of a group of conditions known as lysosomal storage diseases.
What is Fahr’s syndrome?
Primary familial brain calcification (PFBC), also known as familial idiopathic basal ganglia calcification (FIBGC) and Fahr’s disease, is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement. Through the use of CT scans, calcifications are seen primarily in the basal ganglia and in other areas such as the cerebral cortex.
Symptoms of this disease include deterioration of motor functions and speech, seizures, and other involuntary movement. Other symptoms are headaches, dementia, and vision impairment. Characteristics of Parkinson’s Disease are also similar to PFBC.
The disease usually manifests itself in the third to fifth decade of life but may appear in childhood or later in life. It usually presents with clumsiness, fatigability, unsteady gait, slow or slurred speech, difficulty swallowing, involuntary movements or muscle cramping. Seizures of various types are common. Neuropsychiatric symptoms, which may be the first or the most prominent manifestations, range from mild difficulty with concentration and memory to changes in personality and/or behaviour, to psychosis and dementia.
What are types of fainting?
There are several types of syncope. Three common types include:
Vasovagal syncope. Vasovagal syncope involves the Vagus nerve. It can be triggered by emotional trauma, stress, the sight of blood, or standing for a long period of time.
Carotid sinus syncope. This type happens when the carotid artery in the neck is constricted, usually after turning your head to one side or wearing a collar that’s too tight.
Situational syncope. This type occurs due to straining while coughing, urinating, moving your bowels, or having gastrointestinal problems.
What is Familial spastic paralysis?
Hereditary spastic paraplegia (HSP), also called familial spastic paraparesis (FSP), refers to a group of inherited disorders that are characterized by progressive weakness and spasticity (stiffness) of the legs. Early in the disease course, there may be mild gait difficulties and stiffness.
What is Foetal alcohol syndrome?
Foetal alcohol spectrum disorders (FASDs) are a group of conditions that can occur in a person whose mother drank alcohol during pregnancy. Symptoms can include an abnormal appearance, short height, low body weight, small head size, poor coordination, low intelligence, behaviour problems, learning difficulties and problems with hearing or sight.
What are Febrile seizures?
A febrile seizure is a convulsion that may get triggered by high fever, often from an infection.
What is Fisher syndrome?
Miller Fisher syndrome is a rare acquired nerve disease considered to be a variant of Guillain-Barré syndrome. The main features are lack of muscle coordination (ataxia), eye muscle weakness resulting in the inability to move the eyes in several directions (ophthalmoplegia), and the absence of tendon reflexes.
What is Fibromyalgia?
Fibromyalgia is a disorder characterized by widespread musculoskeletal pain accompanied by fatigue, sleep, memory and mood issues. Researchers believe that fibromyalgia amplifies painful sensations by affecting the way your brain processes pain signals. Symptoms sometimes begin after a physical trauma, surgery, infection or significant psychological stress.
What is Foville’s syndrome?
Foville’s syndrome is caused by the blockage of the perforating branches of the basilar artery in the region of the brainstem known as the pons. Most frequently caused by vascular disease or tumors involving the dorsal pons. Ipsilateral peripheral-type facial palsy, due to cranial nerve VII nucleus/fascicle involvement Inability to move the eyes conjugately to the ipsilateral side due to paramedian pontine reticular formation and/or abducens nerve nucleus involvement. That is, patient is unable to look toward the lesion. This is also called Millard-Gubler syndrome.
What is Fragile X syndrome?
Fragile X syndrome (FXS) is a genetic disorder characterized by mild-to-moderate intellectual disability. The average IQ in males is under 55, while about two thirds of females are intellectually disabled. Physical features may include a long and narrow face, large ears, flexible fingers, and large testicles. About a third of those affected have features of autism such as problems with social interactions and delayed speech. Hyperactivity is common, and seizures occur in about 10%. Males are usually more affected than females.
Fragile X syndrome has an X-linked dominant inheritance. It is typically caused by an expansion of the CGG triplet repeat within the FMR1 (fragile X mental retardation 1) gene on the X chromosome.
There is no cure. Early intervention is recommended, as it provides the most opportunity for developing a full range of skills. These interventions may include special education, speech therapy, physical therapy, or behavioural therapy. Medications may be used to treat associated seizures, mood problems, aggressive behaviour, or ADHD. Fragile X syndrome is estimated to occur in 1.4 per 10,000 males and 0.9 per 10,000 females.
What is Fragile X-associated tremor/ataxia syndrome?
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder most frequently seen in male premutation carriers of Fragile X syndrome (FXS) over the age of 50. The main clinical features of FXTAS include problems of movement with cerebellar gait ataxia and action tremor.
What is Friedreich’s ataxia?
Friedreich’s ataxia (FRDA or FA) is an autosomal recessive genetic disease that causes difficulty walking, a loss of sensation in the arms and legs and impaired speech that worsens over time. Many people also have a form of heart disease called hypertrophic cardiomyopathy.
What is Frontotemporal dementia?
The frontotemporal dementias (FTD) encompass six types of dementia involving the frontal or temporal lobes. They are: behavioural variant of FTD, semantic variant primary progressive aphasia, nonaffluent agrammatic variant primary progressive aphasia, Corticobasal syndrome, progressive supranuclear palsy, and FTD associated with motor neuron disease.
What is Functional neurological symptom disorder?
A functional neurological disorder (FND) is a condition in which patients experience neurological symptoms such as weakness, movement disorders, sensory symptoms and blackouts. In the past, the brain of a patient with functional neurological symptom disorder was believed to be structurally normal, but functioning incorrectly
What is Gaucher’s disease?
Gaucher’s disease or Gaucher disease (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs. The disorder is characterized by bruising, fatigue, anaemia, low blood platelet count and enlargement of the liver and spleen, and is caused by a hereditary deficiency of the enzyme glucocerebrosidase (also known as glucosylceramidase), which acts on glucocerebroside.
What is Generalized epilepsy with febrile seizures plus?
Generalized epilepsy with febrile seizures plus (GEFS+) is a syndromic autosomal dominant disorder where afflicted individuals can exhibit numerous epilepsy phenotypes. GEFS+ can persist beyond early childhood (i.e., 6 years of age). GEFS+ is also now believed to encompass three other epilepsy disorders: severe myoclonic epilepsy of infancy (SMEI), which is also known as Dravet’s syndrome, borderline SMEI (SMEB), and intractable epilepsy of childhood (IEC). There are at least six types of GEFS+, delineated by their causative gene. Known causative genes are the sodium channel α subunit genes SCN1A, an associated β subunit SCN1B, and a GABAA receptor γ subunit gene, GABRG2 and there is another gene related with calcium channel the PCDH19 which is also known as Epilepsy Female with Mental Retardation.
What is Gerstmann’s syndrome?
Pure Gerstmann’s syndrome is said to be without aphasia. It generally presents as either a congenital or learning disorder or as a feature of a stroke of the middle cerebral artery. Both forms are rare, especially the childhood form. It can also be a feature of neurodegenerative diseases such as Alzheimer’s disease or as a result of head injury.
What is giant cell arteritis?
Giant cell arteritis (GCA) is a form of vasculitis, a group of disorders that cause inflammation of blood vessels. GCA most commonly affects the arteries of the head (especially the temporal arteries, located on each side of the head), but arteries in other areas of the body can also become inflamed.
What is Globoid cell leukodystrophy?
Krabbe disease (KD) (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare and often fatal lysosomal storage disease that results in progressive damage to the nervous system. KD involves dysfunctional metabolism of sphingolipids and is inherited in an autosomal recessive pattern. The disease is named after the Danish neurologist Knud Krabbe (1885–1965). Symptoms in asymptomatic infantile-onset (<12 months after birth) and later-onset Krabbe disease present themselves differently. 85–90% of individuals with infantile-onset Krabbe disease display progressive neurologic deterioration in infancy and death before the age of two. Symptoms include irritability, fevers, limb stiffness, seizures, feeding difficulties (like GERD), vomiting, staring episodes, and slowing of mental and motor development. In the first stages of the disease, doctors often mistake the symptoms for those of cerebral palsy. Other symptoms include muscle weakness, spasticity, deafness, optic atrophy, optic nerve enlargement, blindness, paralysis, and difficulty when swallowing. Prolonged weight loss may also occur.
10–15% of individuals with later-onset Krabbe disease have a much slower disease progression. These individuals may also display symptoms such as esotropia, slurred speech, and slow development or loss of motor milestones.
What is Gray matter heterotopia?
Gray matter heterotopias are neurological disorders caused by clumps of Gray matter (nodules of neurons) located in the wrong part of the brain. A grey matter heterotopia is characterized as a type of focal cortical dysplasia.
What is Guillain–Barré syndrome?
Guillain–Barré syndrome is a rapid-onset muscle weakness caused by the immune system damaging the peripheral nervous system. The initial symptoms are typically changes in sensation or pain often in the back along with muscle weakness, beginning in the feet and hands, often spreading to the arms and upper body, with both sides being involved. The symptoms may develop over hours to a few weeks. The first symptoms of Guillain–Barré syndrome are numbness, tingling, and pain, alone or in combination. This is followed by weakness of the legs and arms that affects both sides equally and worsens over time. The weakness can take half a day to over two weeks to reach maximum severity, and then becomes steady. In one in five people, the weakness continues to progress for as long as four weeks. The muscles of the neck may also be affected,
What is the First step in diagnosis?
Neurological diagnosis is sometimes easy, sometimes quite challenging, and specialized skills are required. If a patient shuffles into the physician’s office, demonstrating a pill-rolling tremor of the hands and loss of facial expression, Parkinson disease comes readily to mind. Although making such a “spot diagnosis” can be very satisfying, it is important to consider that this clinical presentation may have another cause entirely—such as neuroleptic-induced parkinsonism—or that the patient may be seeking help for a totally different neurological problem. Therefore, an evaluation of the whole problem is always necessary.
What are the 100 essential secrets of neurology?
- The first step in treating patients with neurologic disease is to localize the lesion.
- Myopathies cause proximal symmetric weakness without sensory loss.
- Neuromuscular junction diseases cause fatigability.
- Peripheral neuropathies cause distal asymmetric weakness with atrophy, fasciculations, sensory loss, and pain.
- Radiculopathies cause radiating pain.
- Spinal cord disease causes a triad of distal symmetric weakness, sphincter problems, and a sensory level.
- A unilateral lesion within the brain stem often causes “crossed syndromes,” in which ipsilateral dysfunction of one or more cranial nerves is accompanied by hemiparesis and/or hemisensory loss on the contralateral body.
- Cerebellar disease causes ataxia and an action tremor.
- In the brain, cortical lesions may cause aphasia, seizures, and partial hemiparesis (face and arm only), while subcortical lesions may cause visual field cuts, dense numbness of primary sensory modalities, and more complete hemiparesis (face, arm, and leg).
- The brain is isolated from the rest of the body by the blood-brain barrier.
- Learning and memory are possible because repetitive input to a synapse can cause persistent changes in neuronal function (long-term potentiation).
- Some of the most common and important neurologic diseases are caused by abnormalities in neurotransmitters: Alzheimer’s (acetylcholine), epilepsy (γ-aminobutyric acid, GABA), Parkinson’s (dopamine), migraine (serotonin), and others.
- Many genetic neurologic diseases have been shown to be caused by expansion of trinucleotide (triplet) repeat sequences.
- Foot drop (weakness of the tibialis anterior muscle) can be caused by lesions to the common peroneal nerve or L5 nerve root.
- If the facial nerve is damaged (such as from Bell’s palsy), the entire side of the face is weak. If the cortical input to the facial nerve is damaged (such as from a stroke), only the lower half of the face will be weak.
- A dilated or “blown” pupil implies compression of the third cranial nerve. This is often due to a serious lesion such as an aneurysm or brain herniation.
- Collateral blood flow, often routed through the circle of Willis, sometimes protects against damage from strokes.
- Noncommunicating hydrocephalus is often a medical emergency because the obstructed cerebrospinal fluid (CSF) will cause the intracranial pressure to rise.
- The diagnosis of myopathies often is based on serum creatine kinase (CK) levels, electromyography (EMG) findings, and muscle biopsy.
- Myotonic dystrophy is the most common muscular dystrophy in adults.
- The possibility of respiratory failure is the most serious concern in the management of most patients with myopathies or neuromuscular junction diseases.
- Drug toxicity should always be considered in the differential diagnosis of many neurologic conditions.
- Neuroleptic malignant syndrome is a true medical emergency with a high mortality.
- Patients with myasthenia gravis show a decremental response (fatigue) with repetitive stimulation of their muscles.
- Up to 40% of myasthenic patients experience a transient exacerbation after starting high-dose steroids, usually within 5 to 7 days.
- Lambert-Eaton myasthenic syndrome (LEMS) resembles myasthenia gravis with autonomic dysfunction and arises from an autoimmune attack on presynaptic voltage-gated calcium channels.
- Myotonia, a delayed relaxation after muscle contraction, is most common in muscular dystrophies but can be seen in a host of other conditions.
- On an EMG, muscle disease shows full contraction of all muscles but with short, small motor units.
- On an EMG, nerve disease shows a dropout and reduction in muscle contraction, with prolonged, large motor units. There may be fibrillations and fasciculations.
- The most common causes of peripheral neuropathy are diabetes and alcoholism. 31. The most common motor neuropathy is Guillain-Barré syndrome.
- Nerve biopsy is seldom necessary for the diagnosis of peripheral neuropathy.
- The most often overlooked cause of peripheral neuropathy is genetic.
- The spinal fluid of patients with Guillain-Barré syndrome has high protein but low (normal) cell counts.
- The most common motor neuron disease is amyotrophic lateral sclerosis (ALS).
- Indications for surgery in patients with radiculopathies are intractable pain, progressive motor weakness or sensory deficits, or symptoms refractory to a reasonable degree of nonoperative therapy.
- Neurogenic claudication (pseudo claudication) presents typically as bilateral, asymmetric, lower extremity pain that is provoked by walking (occasionally standing) and relieved by rest.
- Sudden damage to the spinal cord can cause spinal shock, which results in temporary flaccid paralysis, hyporeflexia, sensory loss, and loss of bladder tone.
- Occlusion of the artery of Adamkiewicz may result in anterior spinal artery syndrome, causing bilateral weakness, loss of pain and temperature, and hyperreflexia below the lesion with preserved dorsal column functions (position and vibration).
- Cauda equina syndrome is a neurosurgical emergency that presents with weakness and sensory loss in the lower extremities, prominent radicular pain, saddle anesthesia, and urinary incontinence. 41. Symptoms of brain stem ischemia are usually multiple, and isolated findings (such as vertigo or diplopia) are more often caused by peripheral lesions affecting individual cranial nerves.
- Ménière’s disease presents with the symptomatic triad of episodic vertigo, tinnitus, and hearing loss. It is caused by an increased amount of endolymph in the Scala media. Pathologically, hair cells degenerate in the macula and vestibule.
- The blood supply of the brain stem is derived from the vertebrobasilar system of the posterior circulation.
- There are only two causes of coma: a process affecting the reticular activating system in the brain stem or a process affecting both cerebral hemispheres simultaneously.
- Posterior fossa neoplasms account for 50% of the total number of neoplasms in children. In adults, they are much rarer.
- Lesions of the cerebellar hemisphere impair movement on the ipsilateral side of the body because of a double-crossing of the pathways.
- Loss of pigmented dopaminergic neurons in the substantia nigra is the pathologic hallmark of Parkinson’s disease.
- Sinemet (levodopa) remains the most valuable therapy for Parkinson’s disease. 49. Essential tremor is the most common cause of tremor.
- Torticollis is the most common form of focal dystonia.
- Botulinum toxin is the treatment of choice for most focal dystonias.
- Tardive dyskinesia is a serious side effect of many neuroleptic drugs.
- Cardinal symptoms of autonomic insufficiency include orthostatic hypotension, bowel and bladder dysfunction, impotence, and sweating abnormalities.
- Diabetic neuropathy is one of the most common causes of autonomic dysfunction.
- Syncope is seldom a neurologic problem; loss of consciousness is almost always due to cardiovascular disease.
- Traditionally, the diagnosis of multiple sclerosis requires two separate symptoms at two different times, or lesions disseminated in time and space.
- Faulty interpretation of magnetic resonance imaging (MRI) scans is the most common error in misdiagnosing multiple sclerosis.
- No treatment has yet been shown to prevent ultimate disability in multiple sclerosis.
- Dementia must be differentiated from delirium and depression.
- Dementia is a category, not a diagnosis. The clinician must determine the cause of dementia.
- Seizures that persist or recur without regaining consciousness are called status epilepticus. To avoid permanent brain damage, these should be stopped within 1 hour of onset.
- Alzheimer’s disease and other dementias are treatable. Both cognitive and behavioral symptoms can be treated, and long-term therapy may slow decline and help maintain function.
- Vascular dementia cannot be diagnosed by MRI or computed tomography (CT) scan alone. It also requires a clinical picture of cerebral ischemia.
- A common cause of excessive daytime sleepiness is obstructive sleep apnea syndrome.
- A patient’s own assessment of his sleep quantity and quality is often unreliable. Polysomnographic evaluation (sleep laboratory testing) is the only reliable means for obtaining objective information regarding a suspected sleep disturbance.
- The classic tetrad of narcolepsy is excessive daytime sleepiness, cataplexy, sleep paralysis, and hypnagogic hallucinations.
- Gliomas are the most common primary brain tumors.
- Astrocytomas are the most common spinal cord tumors.
- Metastatic brain tumors are 10 times more common than primary brain tumors.
- Cancer that metastasizes to the spine usually causes pain, a sensory level, paraplegia, and sphincter disturbances. It is usually treated by radiation therapy.
- Many cancer patients die in pain because physicians fail to treat pain appropriately.
- Dysarthria is a defect in the way speech sounds, which can arise from many causes, whereas aphasia is a defect in the use of language and results from damage to the dominant (usually left) cerebral cortex.
- Antibiotics should be given immediately to patients with meningitis and not delayed while other tests are performed.
- Mad cow disease is a variant of Creutzfeldt-Jakob disease caused by a prion—a protein that does not require DNA or RNA to replicate and produce infection.
- Herpes simplex, the most common sporadic encephalitis, often produces focal neurologic damage and must be aggressively treated with acyclovir.
- Patients with acquired immunodeficiency syndrome (AIDS) may develop problems from the virus itself, the drugs used to treat it, or opportunistic infections.
- Most patients with a headache due to a serious underlying illness have an abnormal physical examination. The sudden onset of “the worst headache of my life” should raise concern about an intracranial hemorrhage.
- The use of narcotic analgesics for treatment of headaches should be strongly discouraged. 79. The first-choice drugs for acute migraine therapy are the triptans.
- The best treatment for tension headache is usually amitriptyline.
- Temporal arteritis should be considered in any elderly patient with new headaches.
- The normal adult electroencephalogram (EEG), relaxed with eyes closed, is characterized by 9 to 11 cycles/sec activity in the back of the brain (occipital lobes) and is called the alpha rhythm.
- Each different stage of sleep has a highly characteristic EEG pattern.
- In most jurisdictions, a patient is considered to have died if he meets the criteria for brain death, even if his vital signs (e.g., pulse, blood pressure) are otherwise normal.
- Strokes can be thrombotic, embolic, lacunar, or Hemorrhagic.
- The clinical features, aetiology, and treatment of strokes are different depending on whether they involve the anterior circulation (carotid arteries) or posterior circulation (vertebral basilar arteries).
- The most important modifiable risk factors for stroke are hypertension, smoking, heart disease, hyper lipidemia, and hyper homo=cysteinemia. Other modifiable risk factors include diabetes, alcohol consumption, drugs of abuse, oral contraceptives, and obesity.
- When administered properly, tissue plasminogen activator (tPA) is a beneficial therapy for acute ischemic stroke.
- The role of anticoagulation in cerebrovascular disease is the prevention of stroke in patients at high risk for cardiac emboli.
- The best way to prevent strokes is to control the risk factors.
- Surgery is superior to medical therapy in symptomatic stroke patients with a 70% stenosis or more in their internal carotid arteries.
- The most important complications of subarachnoid hemorrhage are rebleeding, vasospastic ischemia, hydrocephalus, seizures, and syndrome of inappropriate antidiuretic hormone secretion (SIADH).
- Accurate seizure classification guides appropriate antiepileptic therapy. Each type of seizures requires its own specific anticonvulsant drug.
- All partial seizures should be evaluated with an MRI scan.
- A significant change in antiepileptic drug levels should alert you to either noncompliance or a new drug interaction. Noncompliance is probably the most common cause of status epilepticus.
- The most common cause of antiepileptic drug treatment failure is drug side effects.
- Patients whose seizures are refractory to two appropriate antiepileptic drugs should be evaluated at an epilepsy center for definitive diagnosis and surgical evaluation.
- The most common cause of aphasia in adults is stroke.
- Broca’s aphasia is impaired comprehension, repetition, naming, and speech output due to a left frontal lobe lesion; Wernicke’s aphasia is fluent speech full of nonsense words and phrases due to a left temporal lobe lesion.
Why localisation is important?
What is unique to neurology is the emphasis on localization and phenomenology. When a patient presents to an internist or surgeon with abdominal or chest symptoms, the localization is practically established by the symptoms, and the aetiology then becomes the primary concern. In clinical neurological practice, however, a patient with a weak hand may have a lesion localized to muscles, neuromuscular junctions, nerves in the upper limb, brachial plexus, spinal cord, or brain. The formal neurological examination allows localization of the offending lesion. Similarly, a neurologist skilled in recognizing phenomenology should be able to differentiate between tremor and stereotypy, both rhythmical movements; among tics, myoclonus, and chorea, all jerk-like movements; and among other rhythmical and jerk-like movement disorders, such as seen in dystonia. In general, the history provides the best clues to aetiology, and the examination is essential for localization and appropriate disease categorization—all critical for proper diagnosis and treatment.
How neurologist diagnose patients?
Neurologists confirm a clinical diagnosis using different frames of reference. For some diseases, such as migraine and chronic pain, neurologists rely almost entirely on a patient’s symptoms. For others, such as Parkinson disease, they base their diagnosis on physical abnormalities or constellations of findings. For many other diseases, regardless of the patient’s symptoms and signs, their diagnosis rests on an abnormal test result. For example, the diagnosis of stroke or a brain tumour requires imaging studies, and confirmation of seizures often necessitates an EEG. Neurologists diagnose many asymptomatic individuals as having a neurologic disease on the basis of a single test, such as genetic analysis or MRI. For most parts neurologist diagnoses their patients after a proper history, general examination, systemic examination, neurological examination which includes eliciting signs and reflexes, followed by investigations. The clinical formulation remains the mainstay of neurologic diagnosis, but abnormal findings on MRI or other studies routinely trump clinical impressions. For example, the clinical examination may indicate the presence, location, and aetiology of a cerebral lesion, but if an MRI indicates a different process, neurologists generally forsake their clinical formulation and accept the MRI findings as the diagnosis. Overall, neurologists’ and psychiatrists’ diagnoses routinely differ in several respects. Neurologists shift the basis of their diagnosis from clinical constellation, to image, to pathologic specimen, or to another test – whichever is the most specific.
How do psychiatrists diagnose patients?
Psychiatrists make a psychiatric diagnosis of a patient by performing a series of information-gathering activities, such as an interview to determine the patient’s symptoms and giving the patient a physical examination. During a patient interview, a doctor will ask for a full medical history, including an explanation of how long the patient has been feeling or experiencing the symptoms that led him to seek a diagnosis. The medical exam is used to look for any possible physical indications or causes of the mental illness symptoms from which the patient is suffering, because a physical disease can have symptoms that mimic a mental illness. If there are no signs of disease that would cause the symptoms, then a doctor may consult The Diagnostic and Statistical Manual of Mental Disorders, 4th edition (DSM-IV), to make a psychiatric diagnosis. The psychiatrists base their diagnoses, on their patient’s history and observable clinical presentation after performing a mental state examination and neurological examination where they elicit signs and reflexes, followed by routine general examination.
Therefore, we will deal with signs and reflexes in greater details later on as they are the mainframe of diagnosis.
What is the approach to a neurological patient?
Patients with neurologic symptoms are approached in a stepwise manner termed the neurologic method, which consists of the following:
Identifying the anatomic location of the lesion or lesions causing symptoms,
Identifying the pathophysiology involved causing signs,
Generating a differential diagnosis
Selecting specific, appropriate tests
Identifying the anatomy and pathophysiology of the lesion through careful history taking and an accurate neurologic examination markedly narrows the differential diagnosis and thus the number of tests needed.
Thus, symptoms and signs make the cardinal enquiry on which diagnosis is based. In this book we shall consider the symptoms of neurological diseases and signs of neurological diseases in depth.
This approach should not be replaced by reflex ordering of CT, MRI, and other laboratory testing; doing so leads to error and unnecessary cost.
To identify the anatomic location, the examiner considers questions such as
Is the lesion in one or multiple locations?
Is the lesion confined to the nervous system, or is it part of a systemic disorder?
What part of the nervous system is affected?
Specific parts of the nervous system to be considered include the cerebral cortex, subcortical white matter, basal ganglia, thalamus, cerebellum, brain stem, spinal cord, brachial or pelvic plexus, peripheral nerves, neuromuscular junction, and muscle.
What are the common symptoms of Neurological Disorders?
The symptoms of neurological problems may include the following,
Partial or complete paralysis
Partial or complete loss of sensation
Difficulty reading and writing
Poor cognitive abilities
Changes in behaviour
Numbness in the legs or arms
Changes in coordination or balance
What are common symptoms of psychiatric disorders?
The following features are indicative of psychiatric disorders,
unusually intense emotion or excitement
changes in sleep patterns and activity levels
delusions of hallucinations
persistent sad or anxious mood
delusions or hallucinations
feeling of hopelessness
feeling of guilt, helplessness or worthlessness
loss of interest or pleasure in activities and hobbies
decreased energy or fatigue
talking or moving more slowly
vertigo and dizziness
shortness of breath
What are common neurological signs?
“Breathing arm” – respiratory synkinesis
Babinski’s brow lift sign
Cogan’s lid twitch and eyelid hopping
Curtain sign (enhanced ptosis)
Digiti quinti sign
Dissociation of the abdominal reflexes
Forearm rolling test
Gait of normal pressure hydrocephalus
Head impulse test
Hyperkinetic gait disorders
Painful legs and moving toes
Painful tonic spasm
Palatal myoclonus (Palatal tremor)
Ramsay Hunt syndrome
Signe de l’eventail
Triple furrow tongue in myasthenia gravis
Vibration testing with the Rydel-Seiffer tuning fork
Wartenberg’s thumb adduction sign
What are focal neurological signs?
Focal neurologic signs also known as focal neurological deficits or focal CNS signs are impairments of nerve, spinal cord, or brain function that affects a specific region of the body, e.g. weakness in the left arm, the right leg, paresis, or plegia.
Focal neurological deficits may be caused by a variety of medical conditions such as head trauma, tumors or stroke; or by various diseases such as meningitis or encephalitis or as a side effect of certain medications such as those used in anaesthesia.
Neurological soft signs, are a group of non-focal neurologic signs.
1 Frontal lobe signs
2 Parietal lobe signs
3 Temporal lobe signs
4 Occipital lobe signs
5 Limbic signs
6 Cerebellar signs
7 Brainstem signs
8 Spinal cord signs
9 Neurological soft signs
Frontal lobe signs
Frontal lobe signs usually involve the motor system and may include many special types of deficit, depending on which part of the frontal lobe is affected:
unsteady gait (unsteadiness in walking)
muscular rigidity, resistance to passive movements of the limbs (hypertonia)
paralysis of a limb (monoparesis) or a larger area on one side of the body (hemiparesis)
paralysis head and eye movements
inability to express oneself linguistically, described as an expressive aphasia (Broca’s aphasia)
focal seizures that may spread to adjacent areas (Jacksonian seizure)
grand mal or tonic-clonic seizures
changes in personality such as disinhibition, inappropriate jocularity, rage without provocation; or loss of initiative and concern, apathy, akinetic mutism, general retardation
“frontal release” signs, i.e. reappearance of primitive reflexes such as the snout reflex, the grasp reflex, and the palmar-mental reflex
unilateral loss of smell (anosmia)
Parietal lobe signs
Parietal lobe signs usually involve somatic sensation, and may include:
impairment of tactile sensation
impairment of proprioception, i.e. postural sensation and sensation of passive movement
sensory and visual neglect syndromes, i.e. inability to pay attention to things in certain parts of the person’s sensory or spatial environment; this may be as extreme as denial of a limb
loss of ability to read, write, or calculate (dyslexia, dysgraphia, dyscalculia)
loss of ability to find a defined place (geographical agnosia)
loss of ability to identify objects based on touch (astereognosia)
Temporal lobe signs
Temporal lobe signs usually involve auditory sensation and memory, and may include:
deafness without damage to the structures of the ear, described as cortical deafness
tinnitus, auditory hallucinations
loss of ability to comprehend music or language, described as a sensory aphasia (Wernicke’s aphasia)
amnesia, memory loss (affecting either long- or short-term memory or both)
other memory disturbances, such as déjà vu
complex, multimodal hallucinations
complex partial seizures (temporal lobe epilepsy)
Occipital lobe signs
Occipital lobe signs usually involve visual sensation, and may include:
total loss of vision (cortical blindness)
loss of vision with denial of the loss (Anton’s syndrome)
loss of vision on one side of the visual field of both eyes (homonymous hemianopsia)
visual agnosias, i.e. inability to recognize familiar objects, colours, or faces
visual illusions such as micropsia (objects appear smaller) and macropsia (objects appear larger)
visual hallucinations, displaying elementary forms, such as zig-zags and flashes, in one half of the visual field only for each eye (in contrast, temporal lobe visual hallucinations display complex forms, and fill the entire visual field)
Damage to the limbic system involves loss or damage to memory, and may include:
loss or confusion of long-term memory prior to focal neuropathy (retrograde amnesia)
inability to form new memories (anterograde amnesia)
loss of, or reduced emotions (apathy)
loss of olfactory functions
loss of decision-making ability
Cerebellar signs usually involve balance and coordination, and may include:
cerebellar ataxia a gait with a broad base; the patient falters to the side of the lesion (ataxia)
inability to coordinate fine motor activities (intention tremor), e.g. “past-pointing” (pointing beyond the finger in the finger-nose test)
inability to perform rapid alternating movements (dysdiadochokinesia), e.g. inability to rapidly flip the hands
involuntary horizontal eye movements (nystagmus)
dysarthria, usually with bilateral lesions; the speech has a halting jerking quality (scanning speech or staccato speech)
Brainstem signs can involve a host of specific sensory and motor abnormalities, depending on which fibre tracts and cranial nerve nuclei are affected.
Spinal cord signs
Spinal cord signs generally involve unilateral paralysis with contralateral loss of pain sensation.
Neurological soft signs
Neurological soft signs (NSS) are a group of minor non-focal neurological signs that include synkinesis. Other soft signs including clumsiness, and loss of fine motor movement are also commonly found in schizophrenia. NSS likely reflect impairments in sensory integration, motor coordination, and the carrying out of complex motor tasks. When associated with schizophrenia the signs stop if clinical symptoms are effectively treated; and a consensus suggests that they may constitute a state marker for schizophrenia.
What are the symptoms and signs of psychiatric disorders?
They are –
Sleep or appetite changes — Dramatic sleep and appetite changes or decline in personal care
Mood changes — Rapid or dramatic shifts in emotions or depressed feelings
Withdrawal — Recent social withdrawal and loss of interest in activities previously enjoyed
Drop in functioning — An unusual drop in functioning, at school, work or social activities, such as quitting sports, failing in school or difficulty performing familiar tasks
Problems thinking — Problems with concentration, memory or logical thought and speech that are hard to explain
Increased sensitivity — Heightened sensitivity to sights, sounds, smells or touch; avoidance of over-stimulating situations
Apathy — Loss of initiative or desire to participate in any activity
Feeling disconnected — A vague feeling of being disconnected from oneself or one’s surroundings; a sense of unreality
Illogical thinking — Unusual or exaggerated beliefs about personal powers to understand meanings or influence events; illogical or “magical” thinking typical of childhood in an adult
Nervousness — Fear or suspiciousness of others or a strong nervous feeling
Unusual Behavior – Odd, uncharacteristic, peculiar Behavior
One or two of these symptoms alone can’t predict a mental illness but may indicate a need for further evaluation. If a person is experiencing several at one time and the symptoms are causing serious problems in the ability to study, work or relate to others, he/she should be seen by a physician or mental health professional. People with suicidal thoughts or intent, or thoughts of harming others, need immediate attention.
Alexithymia: inability to identify and describe one’s emotions
Alogia: This refers to an impoverishment of thinking that is inferred from speech. This can involve a decreased amount of speech (may be referred to as poverty of speech) or a lack of content (may be referred to as poverty of thought).
Anhedonia: an inability to experience pleasure
Anosognosia: lack of insight
Avolition: an inability to initiate and persist in goal-directed activities
Catatonia: markedly decreased physical reactivity to the environment. Think One Flew Over the Cuckoo’s Nest.
Confabulation: This is the unconscious filling in of memory gaps by imagined events; it does not involve intentional lying. Traumatic brain injury is a good example of a condition that may involve confabulation.
Depersonalization: a form of dissociation in which the self doesn’t feel real; this may include a feeling of looking at the self from a detached perspective
Derealization: also a form of dissociation, this involves a sense that one’s surroundings aren’t fully real, and may feel like looking out at the world through a barrier
Dysprosody: abnormal rhythm of speech
Echolalia: imitation of words/sounds
Echopraxia: imitation of movements
Ego-dystonic: thoughts that are inconsistent with what someone normally believes when they are well (the opposite of this is ego-syntonic)
Floridly psychotic: this description is sometimes used when psychosis is overtly apparent
Overvalued ideas: a belief that someone is quite fixed on, but not to the extent that it’s a delusion
Pressured speech: speech that is very rapid and difficult to interrupt
Responding to internal stimuli: this is sometimes used to describe someone who appears to be responding to hallucinations, such as if they appear to be listening to auditory hallucinations or talking back to them
Suicidal ideation (SI): thoughts of suicide
Active SI: thoughts of acting to take one’s life; may or may not have a specific plan, and the intent to act on those thoughts can be variable
Passive SI: wishing to die, but not thinking about doing something to make that happen
Types of delusions
Capgras: believing that people have been replaced by imposters
Erotomaniac: an example would be believing that one is in a romantic relationship with a famous person
Grandiose: an example might be a person believing they are a key advisor to a major political figure
Ideas of reference: interpreting messages as being particularly directed at oneself, including things on billboards, tv, or radio; for example, something on a news broadcast might be perceived as containing a hidden message directed specifically at the individual.
Paranoid/persecutory: This is probably what first comes to mind when many people think of delusions. These delusions that one is or will be harmed may be further described as non-bizarre (within the realm of possibility, like being monitored by the government) or bizarre (aliens trying to enter their home via the cat door to steal their right foot).
Somatic: false beliefs about things that are happening in one’s body, ranging from something like cancer to something bizarre like believing one’s stomach is filled with dancing turtles
Delusions of control: belief that one’s thoughts are controlled by outside forces
Thought broadcasting: believing that one’s thoughts can be heard by other people
Thought insertion/thought withdrawal: believing that thoughts are being put into or taken out of one’s head
“Delusional proportions”: things like guilt or obsessions may become so intense they’re considered to have become delusional in nature, aka reached delusional proportions
Thought form/thought process
Circumstantiality: wandering away from the original idea, but eventually returning to it
Clanging: grouping unrelated words based on sound (such as rhyming)
Concrete: interpreting things very literally, often tested by asking a patient to interpret proverbs; eg “ Hitting the nail on the head” might be interpreted as hammering the nail on the head rather than the idiomatic meaning of performing a task with exactness.
Loose associations: connecting ideas that seem to be totally unrelated
Neologisms: making up new words as a result of thought disorder
Overinclusive: including excessive, unnecessary amounts of detail
Perseveration: repeatedly returning to the same topic and difficult to redirect
Poverty of thought: an easy way to describe this might be that the lights are on but nobody’s home
Tangentiality: going off on a tangent that may be only slightly related, and losing the original idea
Word salad: words put together in an incoherent manner
Descriptors of affect (facial expression of emotion)
Euthymic: neutral, “normal”
Expansive: unrestrained expression of feelings
Incongruent: does not match the reported mood, such as smiling while reporting feeling sad
Labile: rapidly changing from one emotion to another
Restricted/blunted/flat: These all refer to decreased facial expressiveness. Restricted is the mildest term, and flat refers to almost no emotional expression.
What are the categories of pathophysiology involved in neurological disorders?
Once the location of the lesion is identified, categories of pathophysiologic causes are considered; they include
When appropriately applied, the neurologic method provides an orderly approach to even the most complex case, and clinicians are far less likely to be fooled by neurologic mimicry—eg, when symptoms of an acute stroke are actually due to a brain tumour or when rapidly ascending paralysis suggesting Guillain-Barré syndrome is actually due to spinal cord compression.
What are the categories of psychophysiology involved in psychiatric disorders?
They are the four Ds when defining psychopathological abnormality:
Deviance: this term describes the idea that specific thoughts, behaviours and emotions are considered deviant when they are unacceptable or not common in society. Clinicians must, however, remember that minority groups are not always deemed deviant just because they may not have anything in common with other groups. Therefore, we define an individual’s actions as deviant or abnormal when their behaviour is deemed unacceptable by the culture they belong to. However, many disorders have a relation between patterns of deviance and therefore need to be evaluated in a differential diagnostic model.
Distress: this term accounts for negative feelings by the individual with the disorder. They may feel deeply troubled and affected by their illness. Behavior and feelings that cause distress to the individual or to others around him or her are considered abnormal, if the condition is upsetting to the person experiencing it. Distress is related to dysfunction by being a useful asset in accurately perceiving dysfunction in an individual’s life. These two are not always related because an individual can be highly dysfunctional and at the same time experiencing minimal stress. The important characteristic of distress is not dysfunction, but rather the limit to which an individual is stressed by an issue
Dysfunction: this term involves maladaptive behaviour that impairs the individual’s ability to perform normal daily functions, such as getting ready for work in the morning, or driving a car. This maladaptive behaviour has to be a problem large enough to be considered a diagnosis. It’s highly noted to look for dysfunction across an individual’s life experience because there is a chance the dysfunction may appear in clear observable view and in places where it is less likely to appear. Such maladaptive behaviours prevent the individual from living a normal, healthy lifestyle. However, dysfunctional behaviour is not always caused by a disorder; it may be voluntary, such as engaging in a hunger strike.
Danger: this term involves dangerous or violent behaviour directed at the individual, or others in the environment. The two important characteristics of danger is, danger to self and danger to others. When diagnosing, there is a large vulnerability of danger in which there is some danger in each diagnosis and within these diagnoses there is a continuum of severity. An example of dangerous behaviour that may suggest a psychological disorder is engaging in suicidal activity. Behavior and feelings that are potentially harmful to an individual or the individuals around them are seen as abnormal.
What is biological psychopathology involved in psychiatric disorders?
Biological psychopathology is the study of the biological aetiology of mental illnesses with a particular emphasis on the genetic and neurophysiological basis of clinical psychology. Biological psychopathology attempts to explain psychiatric disorders using multiple levels of analysis from the genome to brain functioning to behavior. Although closely related to clinical psychology, it is fundamentally an interdisciplinary approach that attempts to synthesize methods across fields such as neuroscience, psychopharmacology, biochemistry, genetics, and physiology. It is known by several alternative names, including “clinical neuroscience” and “experimental psychopathology.” Due to the focus on biological processes of the central and peripheral nervous systems, biological psychopathology has been important in developing new biologically-based treatments for mental disorders.
What is the difference between symptoms and signs?
Though signs and symptoms describe the same conditions, these two are different in many characteristics. While signs are what a doctor sees, symptoms are what a patient experience. A symptom can be defined as one of the characters of a disease. Meanwhile, sign is the definite indication of a specific disease. The key difference between signs and symptoms is who observes the effect. For example, a rash could be a sign, a symptom, or both: If the patient notices the rash, it is a symptom. If the doctor, nurse, or anyone other than the patient notices the rash, it is a sign. If both the patient and doctor notice the rash, it can be classed as both a sign and a symptom.
What is the difference between a reaction and a response?
The key difference between reaction and reflex depends on the type of response. A reaction is a voluntary response while a reflex is an involuntary response.
What are the similarities between reaction and reflex?
1 Both reaction and reflex involved in responding to a stimulus. 2 In both types, the presence of a sensory and a motor neuron is compulsory. 3 Also, both of them involve the nervous system. 4 Besides, both are important in the maintenance of the body homeostasis.
What is the importance of reflexes?
The presence and strength of a reflex is an important sign of nervous system development and function. Many infant reflexes disappear as the child grows older, although some remain through adulthood.
Why should the testicle contract with a brisk stroke down the inner thigh of a man?
It’s hardly protective now, although maybe it was 20,000 years ago when the reflexes were evolving. The corneo-mandibular reflex involves forced eyelid closure (generally elicited by stimulating the cornea), which causes an immediate contraction of the contralateral pterygoid (jaw) muscles which pull the jaw to the side of the contracting pterygoids. Imagine our ancestors rushing through the bush with a wild lion chasing him and you can well understand the protective nature of the reflexes. A bit of grass touches his cornea or his inner thigh. Reflexes forces his eyelid closure and pushes his jaw away and his testicles are withdrawn, away from the harm’s way. That is how reflexes were evolved.
Why is reflex action essential to survival?
Reflex actions are therefore essential to the survival of many organisms. A reflex action follows this general sequence and does not involve the conscious part of the brain. This is why the response is so fast. In man the stimulus of reflex action travels with a speed of 320 km per hour. This can be understood with an example. If a needle is pricked in the hand or leg of a person, it is instantly pulled out by him. In this short span of time, a number of physiological activities take place. Had the information been processed through brain there would have been a needless delay in protective responses.
Primitive reflexes are necessary for new-born survival, and abnormal reflexes can be a sign of central nervous system dysfunction. It is important to understand how to correctly elicit these responses for early diagnosis of possible lifelong complications. The adult re-emergence of primitive reflexes indicates the potential for several brain pathologies.
What is the clinical Significance of reflexes?
Reflexes are very important signs of neurological assessment. Throughout this book we will be speaking of various reflexes. It is imperative that we understand why they are important.
Why reflexes are important in neurological assessment of an infant?
Primitive reflexes are important in the new-born neurological examination. An absent or abnormal sucking reflex is an indirect indicator of neurological maturity in new-born infants. When an abnormal sucking reflex is associated with other signs of CNS involvement, it suggests basal ganglia or brainstem dysfunction. Moro reflex is weak in preterm infants compared to full-term infants due to their poor muscle tone and resistance to passive movements. This response correlates with a delay in motor development in very low birth weight infants. The absence of the Moro reflex suggests CNS dysfunction. Persistence of primitive reflexes past 4 to 6 months or absence before this time when they should have been present is predictive of cerebral palsy. The presence of 5 or more abnormal reflexes correlated with the development of cerebral palsy or mental delays.
Why reflexes are important in neurological assessment of an adult?
Primitive reflexes, also known as frontal release signs, can be normal in the adult population. Multiple frontal release signs observed on neurological examination correlate with frontal lobe brain pathology, including Alzheimer disease, multiple sclerosis, and schizophrenia. Patients with schizophrenia were found to have more frontal release signs than their unaffected siblings and the control group. A present Babinski reflex is important in the evaluation of a suspected pyramidal tract lesion and is an upper motor neuron damage sign. The reappearance of the grasp reflex has been associated with frontal lobe lesions and can be an early sign in Corticobasal syndrome, Lewy body dementia, and progressive supranuclear palsy. The glabellar tap and palmomental reflexes can be seen as an early sign of Parkinsonian disorders as well. The presence of primitive oral reflexes must be distinguished from tardive dyskinesia in patients exposed to neuroleptics. The sucking and rooting reflexes may indicate diffuse cerebral atrophy, while snout reflex suggests a frontal lobe lesion.
How is History of neurological case, taken?
The history is the most important part of the neurologic evaluation. Patients should be put at ease and allowed to tell their story in their own words. Usually, a clinician can quickly determine whether a reliable history is forthcoming or whether a family member should be interviewed instead.
Specific questions clarify the quality, intensity, distribution, duration, and frequency of each symptom. What aggravates and attenuates the symptom and whether past treatment was effective should be determined. Asking the patient to describe the order in which symptoms occur can help identify the cause. Specific disabilities should be described quantitatively (eg, walks at most 25 ft before stopping to rest), and their effect on the patient’s daily routine noted. Past medical history and a complete review of systems are essential because neurologic complications are common in other disorders, especially alcoholism, diabetes, cancer, vascular disorders, and HIV infection. Family history is important because migraine and many metabolic, muscle, nerve, and neurodegenerative disorders are inherited. Social, occupational, and travel history provides information about unusual infections and exposure to toxins and parasites.
Sometimes neurologic symptoms and signs are functional or hysterical, reflecting a psychiatric disorder. Typically, such symptoms and signs do not conform to the rules of anatomy and physiology, and the patient is often depressed or unusually frightened. However, functional and physical disorders sometimes coexist, and distinguishing them can be challenging.
What is neurological examination?
A neurological examination is the assessment of sensory neuron and motor responses, especially reflexes, to determine whether the nervous system is impaired. This typically includes a physical examination and a review of the patient’s medical history, but not deeper investigation such as neuro imaging. Neurological examination is the assessment of mental status, cranial nerves, motor function, sensory function, coordination, and gait for the diagnosis of neurological conditions. Findings should always be compared with the contralateral side and upper limb function should be compared to lower limb function to determine the location of the lesion.
Why localizes a lesion?
Because that is how you frame diagnostic approach.
What is the role of a neurologist/psychiatrist in a neurological test?
Once the patient has been thoroughly tested, it is then the role of the physician to determine whether these findings combine to form a recognizable medical syndrome or neurological disorder such as Parkinson’s disease or motor neurone disease.
How is neurological examination done?
The neurologic examination begins with careful observation of the patient entering the examination area and continues during history taking. The patient should not be helped, so that difficulties in function can become apparent. The patient’s speed, symmetry, and coordination while moving to the examining table are noted, as are posture and gait. The patient’s demeanour, dress, and responses provide information about mood and social adaptation. Abnormalities in language, speech, or praxis; neglect of space; unusual posturing; and other disorders of movement may be apparent before formal testing.
As information is obtained, a skilled examiner may include certain components of the examination and exclude others based on a preliminary hypothesis about the anatomy and pathophysiology of the problem. If the examiner is less skilled, complete neurologic screening is done.
The patient is asked to follow a complex command that involves 3 body parts and discriminates between right and left (eg, “Put your right thumb in your left ear, and stick out your tongue”). The patient is asked to name simple objects and body parts and to read, write, and repeat simple phrases; if deficits are noted, other tests of aphasia are needed. Spatial perception can be assessed by asking the patient to imitate simple and complex finger constructions and to draw a clock, cube, house, or interlocking pentagons; the effort expended is often as informative as the final product. This test may identify impersistence, perseveration, micrographia, and hemispatial neglect. Praxis (cognitive ability to do complex motor movements) can be assessed by asking the patient to use a toothbrush or comb, light a match, or snap the fingers.
What is the role of a psychiatrist/neurologist in a mental status examination?
Once the patient’s history is taken and he has been thoroughly tested by mental state examination and neurological examination, it is then the role of the physician to determine whether these findings combine to form a recognizable medical syndrome like delirium, dementia, depression or other conditions.
How is examination of Mental Status done?
The mental status examination is an assessment of current mental capacity through evaluation of general appearance, behaviour, any unusual or bizarre beliefs and perceptions (eg, delusions, hallucinations), mood, and all aspects of cognition (eg, attention, orientation, memory).
Examination of mental status is done in anyone with an altered mental status or evolving impairment of cognition whether acute or chronic. Many screening tools are available; the Mini-Mental State Examination is one of the most commonly used. Baseline results are recorded, and the examination is repeated yearly and whenever a change in mental status is suspected.
Patients should be told that recording of mental status is routine and that they should not be embarrassed by its being done.
The examination is done in a quiet room, and the examiner should make sure that patients can hear the questions clearly. Patients who do not speak English as their primary language should be questioned in the language they speak fluently.
The patient’s attention span is assessed first; an inattentive patient cannot cooperate fully and hinders testing. Any hint of cognitive decline requires examination of mental status which involves testing multiple aspects of cognitive function (eg, orientation to time, place, and person; attention and concentration; memory; verbal and mathematical abilities; judgment; reasoning). Loss of orientation to person (ie, not knowing one’s own name) occurs only when obtundation, delirium, or dementia is severe; when it occurs as an isolated symptom, it suggests malingering. Insight into illness and fund of knowledge in relation to educational level are assessed, as are affect and mood.
Mental status examination evaluates different areas of cognitive function. The examiner must first establish that the patient is attentive—eg, by asking the patient to immediately repeat 3 words. Testing an inattentive patient further is not useful.
The parameters of cognitive function to be tested include the following:
Test the 3 parameters of orientation:
Person (What is your name?)
Time (What is today’s date?)
Place (What is the name of this place?)
Ask the patient to recall 3 objects after a 3-min delay.
Ask the patient a question about the past, such as “What colour suit did you wear at your wedding?” or “What was the make of your first car?”
Use any simple mathematical test. Serial 7s are common: The patient is asked to start with 100 and to subtract 7, then 7 from 93, etc. Alternatively, ask how many nickels are in $1.35.
Ask the patient to name as many objects in a single category, such as articles of clothing or animals, as possible in 1 min.
Attention and concentration
Ask the patient to spell a 5-letter word forward and backward. “World” is commonly used.
Present an object, such as a pen, book, or ruler, and ask the patient to name it.
Start with a 1-step command, such as “Touch your nose with your right hand.” Then test a 3-step command, such as “Take this piece of paper in your right hand. Fold it in half. Put the paper on the floor.”
Ask the patient to write a sentence. The sentence should contain a subject and an object and should make sense. Spelling errors should be ignored.
Ask the patient to draw a house or a clock and mark the clock with a specific time. Or ask the patient to draw 2 intersecting pentagons.
Ask the patient to identify a unifying theme between 3 or 4 objects (eg, all are fruit, all are vehicles of transportation, all are musical instruments). Ask the patient to interpret a moderately challenging proverb, such as “People who live in glass houses should not throw stones.”
Ask the patient about a hypothetical situation requiring good judgment, such as “What would you do if you found a stamped letter on the sidewalk?” Placing it in the mailbox is the correct answer; opening the letter suggests a personality disorder.
How is Olfactory nerve tested?
Test the patient’s ability to detect and identify an aroma in each nostril
How is Optic nerve tested?
For Visual acuity
Ask the patient to read from a Snellen chart using one eye at a time, correct for refractive errors with glasses or a pinhole
For colour vision with Ishihara plates
For Visual field
Assess each eye by confrontation using a finger or red pin
More accurate testing uses perimetry
For Pupillary light reflex
The examiner shines a light into the patient’s eye (e.g., a penlight).
A prompt, consensual response should normally be observable.
For Pupillary shape and width: Healthy pupils are isocoric and of medium width; anisocoric and/or narrow/wide are suggestive of a disorder (see pupillary disorders).
Fundoscopic examination (e.g., a pale optic disk is indicative of optic nerve atrophy)
How to test for Oculomotor nerve, trochlear nerve, abducens nerve III, IV, VI?
Patients are asked to follow a finger moving up, down, laterally, and diagonally with their eyes.
Observe if there is paresis, alterations in smooth pursuit appear, or nystagmus,
How to test for Visual accommodation?
The physician moves a finger towards the patient, a normal response is constriction of the pupil.
How to test for Eyelid ptosis (Levator palpebrae superioris muscle dysfunction)?
The patient is asked to open and close the eyes.
How to test for Trigeminal nerve? V Facial sensation
The examiner lightly touches three distinct facial areas (the forehead, cheek, and jaw).
Normally, light touch should be felt by the patient in all three areas.
If this is not the case, tests for abnormalities of other sensory modalities (e.g., pain, temperature) should be performed.
How to test for Muscle function (muscles of mastication)?
The patient is asked to open and close his/her mouth; at the same time, the examiner palpates the masseter muscle.
How to test Masseter reflex (jaw jerk reflex)?
A finger is placed on the patient’s chin, while the patient’s mouth remains slightly open
Tapping with a reflex hammer normally induces jaw closure
If jaw closure is increased, suspect an UMN lesion
How to test Corneal reflex?
The cornea is lightly touched with a cotton swab (approaching slowly and sideways from the lid edge)
Touch normally induces closing of the eyelid.
How to test Facial nerve VII?
Motor function (muscles of expression)
If motor function is intact, the patient should be able to perform the following:
Closing the eyes tightly
Inflate the cheeks
Smiling (showing teeth)
How to test Sense of taste?
If the sense is intact, the patient should be able to taste sweet, salty, and sour food/drinks.
How to test Vestibulocochlear nerve?
Basic hearing test: normally, the patient should be able to hear two fingers rubbing together before the external acoustic meatus (ear canal).
The Weber test and Rinne test allow sensorineural hearing loss to be differentiated from conductive hearing loss (see ENT diagnostic testing).
How to test Glossopharyngeal nerve and Vagus nerve?
IX, X Palatal movement
The physician performs a visual inspection of the uvula and soft palate: asymmetry and uvula deviation indicate impaired innervation
Gag reflex (pharyngeal reflex):
Normally, evoked by approaching the uvula quickly and carefully with a spatula/long cotton swab on each side.
Absence of the gag reflex is indicative of nerve damage
How to test IX only?
sense of taste
The patient is given a bitter substance to taste: no sense of taste indicates impaired innervation.
How to test X only (recurrent laryngeal nerve)?
In case of lesion, the patient would have hoarseness or bovine cough.
Accessory nerve XI Trapezius muscle and sternocleidomastoid muscle (motor function)
How to test Trapezius muscle?
the patient’s shoulder is elevated against resistance
Sternocleidomastoid muscle: the patient’s head is rotated against resistance
How to test Hypoglossal nerve?
XII Tongue muscles (motor function)
The tongue should be pressed against the cheek from the inside, while the examiner tests the strength by pushing from the outside.
Hypoglossal nerve paralysis: when the patients stick out the tongue, it moves towards the impaired side
How to test Upper motor neuron lesion (UMN damage) vs Lower motor neuron lesion (LMN damage)?
Lesion along the descending motor pathways (corticospinal tract or pyramidal tract)
Typically, before the anterior horn cell of the spinal cord or motor nuclei of the cranial nerves (e.g., along motor cortex, brain stem)
Lesion anywhere along the nerve fibres between the ventral horn of the spinal cord and relevant muscle tissue
Atrophy is absent
Central paresis (spastic paresis): pyramidal tract signs
↑ Tone, spasticity, and clonus
↓ power in muscle groups
Peripheral paresis (flaccid paresis): absent pyramidal tract signs
↓ Power in single muscle fibres
Detrusor hyperreflexia and detrusor/external urethral sphincter dyssynergia
How to examine Motor system?
The limbs and shoulder girdle should be fully exposed, then inspected for atrophy, hypertrophy, asymmetric development, fasciculations, myotonia, tremor, and other involuntary movements, including chorea (brief, jerky movements), athetosis (continuous, writhing movements), and myoclonus (shock like contractions of a muscle). Passive flexion and extension of the limbs in a relaxed patient provide information about muscle tone. Decreased muscle bulk indicates atrophy, but bilateral atrophy or atrophy in large or concealed muscles, unless advanced, may not be obvious. In the elderly, loss of some muscle mass is common. Hypertrophy occurs when one muscle must work harder to compensate for weakness in another; pseudohypertrophy occurs when muscle tissue is replaced by excessive connective tissue or non-functional material (eg, amyloid).
Fasciculations (brief, fine, irregular twitches of the muscle visible under the skin) are relatively common. Although they can occur in normal muscle, particularly in calf muscles of the elderly, fasciculations usually indicate lesions of the lower motor neuron (eg, nerve degeneration or injury and regeneration). Myotonia (slowed relaxation of muscle after a sustained contraction or direct percussion of the muscle) indicates myotonic dystrophy and may be demonstrated by inability to quickly open a clenched hand. Increased resistance followed by relaxation (clasp-knife phenomenon) and spasticity indicates upper motor neuron lesions. Lead-pipe rigidity (uniform rigidity throughout the range of motion), often with cogwheeling, suggests a basal ganglia disorder.
Muscle strength: Patients who report weakness may mean fatigue, clumsiness, or true muscle weakness. Thus, the examiner must define the precise character of symptoms, including exact location, time of occurrence, precipitating and ameliorating factors, and associated symptoms and signs (see Approach to the Neurologic Patient: Weakness). Limbs are inspected for weakness (when extended, a weak limb drifts downward), tremor, and other involuntary movements. The strength of specific muscle groups is tested against resistance, and one side of the body is compared with the other. However, pain may preclude a full effort during strength testing. With hysterical weakness, resistance to movement may be initially normal, followed by a sudden giving way.
Subtle weakness may be indicated by decreased arm swing while walking, pronator drift in an outstretched arm, decreased spontaneous use of a limb, an externally rotated leg, slowing of rapid alternating movements, or impairment of fine dexterity (eg, ability to fasten a button, open a safety pin, or remove a match from its box). Subtle motor weakness can often be detected by Tiller and mini-Tiller testing. With each hand, the patient makes a fist (in the Tiller test) or a fist with the index finger extended (in the mini-Tiller test) and then rotates the 2 around each other. The weaker limb becomes fixed in space while the stronger revolves around it.
Strength should be graded.
0: No visible muscle contraction
1: Visible muscle contraction with no or trace movement
2: Limb movement when gravity is eliminated
3: Movement against gravity but not resistance
4: Movement against resistance supplied by the examiner
5: Full strength
The difficulty with this and similar scales is the large range in strength possible between grades 4 and 5. Distal strength can be semi quantitatively measured with a handgrip ergometer or with an inflated BP cuff squeezed by the patient.
Functional testing often provides a better picture of the relationship between strength and disability. As the patient does various manoeuvres, deficiencies are noted and quantified as much as possible (e.g., number of squats done or steps climbed). Rising from a squatting position or stepping onto a chair tests proximal leg strength; walking on the heels and on tiptoe tests distal strength. Pushing with the arms to get out of a chair indicates quadriceps weakness. Swinging the body to move the arms indicates shoulder girdle weakness. Rising from the supine position by turning prone, kneeling, and using the hands to climb up the thighs and slowly push erect (Gowers sign) suggests pelvic girdle weakness.
How to examine Gait, stance, and coordination?
Normal gait, stance, and coordination require integrity of the motor, vestibular, and proprioceptive pathways (see also Movement and Cerebellar Disorders). A lesion in any of the pathways causes characteristic deficits: Cerebellar ataxia requires a wide gait for stability; foot drop causes a steppage gait (lifting the leg higher than normal to avoid catching the foot on surface irregularities); pelvic muscle weakness causes waddling; and spastic leg causes scissoring and circumduction. Patients with impaired proprioception must constantly observe placement of their feet to avoid tripping or falling. Coordination can be tested with finger-to-nose or knee-to-shin manoeuvres, which help detect ataxic movements.
How to examine Sensation?
The best screening test for sensory loss uses a safety pin to lightly prick the face, torso, and 4 limbs; the patient is asked whether the pinprick feels the same on both sides and whether the sensation is dull or sharp. The pin is discarded after use to avoid potential transmission of bloodborne disorders (e.g., HIV infection, hepatitis).
How to examine Cortical sensory function?
It is evaluated by asking the patient to identify a familiar object (e.g., coin, key) placed in the palm of the hand (stereognosis) and numbers written on the palm (graphesthesia) and to distinguish between 1 and 2 simultaneous, closely placed pinpricks on the fingertips (2-point discrimination).
How to examine Temperature sense?
It can be tested with a cold tuning fork that has one prong rubbed warm by the examiner’s palm or with test tubes containing warm and cold water.
How to examine Joint position sense?
It is tested by moving the terminal phalanges of the patient’s fingers, then the toes, up or down a few degrees. If the patient cannot identify these tiny movements with eyes closed, larger up-and-down movements are tried before testing the next most proximal joints (e.g., testing the ankles if toe movement is not perceived). Pseudo athetosis refers to involuntary writhing, snakelike movements of a limb that result from severe loss of position sense; motor pathways, including those of the basal ganglia, are preserved. The brain cannot sense where the limb is in space so the limb moves on its own, and the patient must use vision to control the limb’s movements. Typically, when the eyes are closed, the patient cannot locate the limb in space. Inability to stand with feet together and eyes closed (Romberg test) indicates impaired position sense in the lower extremities. When cerebellar disease is present, the patient stands with the feet apart but as close together as possible without falling and only then closes the eyes. Rarely, a positive result is due to severe bilateral loss of vestibular function (e.g., aminoglycoside toxicity).
How to examine vibration sense?
The examiner places a finger under the patient’s distal interphalangeal joint and presses a lightly tapped 128-cycle tuning fork on top of the joint. The patient should note the end of vibration about the same time as the examiner, who feels it through the patient’s joint.
How to examine Sensation?
A cotton wisp can be used to test light touch.
If sensation is impaired, the anatomic pattern suggests location of the lesion.
Stocking-glove distribution: Distal peripheral nerves
Single dermatomal or nerve branch distribution: Isolated nerves (mononeuritis multiplex) or nerve roots (radiculopathy)
Sensation reduced below a certain dermatomal level: Spinal cord
Saddle area sensory loss: Cauda equina
Crossed face-body pattern: Brain stem
Hemisensory loss: Brain
Midline hemisensory loss: Thalamus or functional (psychiatric)
Location of the lesion is confirmed by determining whether motor weakness and reflex changes follow a similar pattern. Patchy sensory, motor, and reflex deficits in a limb suggest lesions of the brachial or pelvic plexus.
Also examine Sensory dermatomes.
How to examine Reflexes?
Deep tendon (muscle stretch) reflex testing evaluates afferent nerves, synaptic connections within the spinal cord, motor nerves, and descending motor pathways. Lower motor neuron lesions (eg, affecting the anterior horn cell, spinal root, or peripheral nerve) depress reflexes; upper motor neuron lesions (ie, non–basal ganglia disorders anywhere above the anterior horn cell) increase reflexes
Reflexes tested include the biceps (innervated by C5 and C6), radial brachialis (by C6), triceps (by C7), quadriceps knee jerk (by L4), and ankle jerk (by S1). Any asymmetric increase or depression is noted. Jendrassik maneuver can be used to augment hypoactive reflexes: The patient locks the hands together and pulls vigorously apart as a tendon in the lower extremity is tapped. Alternatively, the patient can push the knees together against each other, while the upper limb tendon is tested.
Lightly stroking the 4 quadrants of the abdomen should elicit a superficial abdominal reflex. Depression of this reflex may be due to a central lesion, obesity, or lax skeletal muscles (eg, after pregnancy); its absence may indicate spinal cord injury.
Pathologic reflexes (eg, Babinski, Chaddock, Oppenheim, snout, root, grasp) are reversions to primitive responses and indicate loss of cortical inhibition.
Babinski, Chaddock, and Oppenheim reflexes all evaluate the plantar response. The normal reflex response is flexion of the great toe. An abnormal response is slower and consists of extension of the great toe with fanning of the other toes and often knee and hip flexion. This reaction is of spinal reflex origin and indicates spinal disinhibition due to an upper motor neuron lesion. For Babinski reflex, the lateral sole of the foot is firmly stroked from the heel to the ball of the foot with a tongue blade or end of a reflex hammer. The stimulus must be noxious but not injurious; stroking should not veer too medially, or it may inadvertently induce a primitive grasp reflex. In sensitive patients, the reflex response may be masked by quick voluntary withdrawal of the foot, which is not a problem in Chaddock or Oppenheim reflex testing. For Chaddock reflex, the lateral foot, from lateral malleolus to small toe, is stroked with a blunt instrument. For the Oppenheim reflex, the anterior tibia, from just below the patella to the foot, is firmly stroked with a knuckle.
The snout reflex is present if tapping a tongue blade across the lips causes pursing of the lips.
The rooting reflex is present if stroking the lateral upper lip causes movement of the mouth toward the stimulus.
The grasp reflex is present if gently stroking the palm of the patient’s hand causes the fingers to flex and grasp the examiner’s finger.
The palmo-mental reflex is present if stroking the palm of the hand causes contraction of the ipsilateral mentalis muscle of the lower lip.
Hoffmann sign is present if flicking the nail on the 3rd or 4th finger elicits involuntary flexion of the distal phalanx of the thumb and index finger.
For the glabellar sign, the forehead is tapped to induce blinking; normally, each of the first 5 taps induces a single blink, then the reflex fatigues. Blinking persists in patients with diffuse cerebral dysfunction.
Testing for clonus (rhythmic, rapid alternation of muscle contraction and relaxation caused by sudden, passive tendon stretching) is done by rapid dorsiflexion of the foot at the ankle. Sustained clonus indicates an upper motor neuron disorder.
Sphincteric reflexes may be tested during the rectal examination. To test sphincteric tone (S2 to S4 nerve root levels), the examiner inserts a gloved finger into the rectum and asks the patient to squeeze it. Alternatively, the perianal region is touched lightly with a cotton wisp; the normal response is contraction of the external anal sphincter (anal wink reflex). Rectal tone typically becomes lax in patients with acute spinal cord injury or cauda equine syndrome.
For the bulbospongiosus reflex, which tests S2 to S4 levels, the dorsum of the penis is tapped; normal response is contraction of the bulbospongiosus muscle.
For the cremasteric reflex, which tests the L2 level, the medial thigh 7.6 cm (3 in) below the inguinal crease is stroked upward; normal response is elevation of the ipsilateral testis.
How to examine Autonomic nervous system?
Assessment involves checking for postural hypotension, heart rate changes in response to the Valsalva maneuver, decreased or absent sweating, and evidence of Horner syndrome (unilateral ptosis, pupillary constriction, facial anhidrosis). Disturbances of bowel, bladder, sexual, and hypothalamic function should be noted.
How to examine Cerebrovascular examination?
In a patient presenting with acute stroke, radial pulse and BP in the 2 arms are compared to check for painless aortic dissection, which can occlude a carotid artery and cause stroke. The skin, sclerae, fundi, oral mucosae, and nail beds are inspected for haemorrhages and evidence of cholesterol or septic emboli; auscultation over the heart can detect new or evolving murmurs and arrhythmias. Bruits over the cranium may indicate an arteriovenous malformation or fistula or, occasionally, redirected blood flow across the circle of Willis after carotid occlusion. Auscultation over the carotid arteries can detect bruits near the bifurcation; vigorous palpation should be avoided. By running the bell of the stethoscope down the neck toward the heart, the examiner may identify a change in character that can distinguish a bruit from a systolic heart murmur. Decreased vigour of the carotid upstroke suggests a stenotic lesion.
Peripheral pulses are palpated to check for peripheral vascular disease. The temporal arteries are palpated; enlargement or tenderness may suggest temporal arteritis.
What is rapid neuro examination?
What is Babinski test?
The plantar reflex is a reflex elicited when the sole of the foot is stimulated with a blunt instrument. The reflex can take one of two forms. In normal adults the plantar reflex causes a downward response of the hallux (flexion). An upward response (extension) of the hallux is known as the Babinski response or Babinski sign, named after the neurologist Joseph Babinski.
Positive Babinski sign (toes point upward, abnormal)
What is Pronator drift test?
The patient is asked to raise both arms horizontally up to shoulder level, palms facing upwards, with the eyes closed (for 30 seconds)
Lowering or pronation of one arm is indicative of paresis.
What is Mingazzini test?
The patient is asked to lie in the supine position, with eyes closed, and is asked to raise and hold both legs for 30 seconds (90° angle at knee and hip).
Lowering of one leg is indicative of paresis
What are the aetiologies of absent Babinski sign (toes neutral or point downward, normal)?
Multiple sclerosis, tumour, stroke, Vitamin B12 deficiency, ALS (both UMN and LMN signs)
Peripheral neuropathies, poliomyelitis (poliovirus), ALS (both UMN and LMN signs)
How to assess muscles?
Assessment by inspection and palpation of muscle groups.
What are Abnormal muscle movements?
Tremor: rhythmic, involuntary movements of one or more parts of the body either during rest or motor activity (resting vs. intention tremors)
Tics: sudden and rapid involuntary, intermittent, nonrhythmic movements or vocalizations without any recognizable purpose
Motor stereotypies: rhythmic, repetitive movements; commonly seen in stereotypic movement disorder
Grossly disorganized Behavior: inadequate goal-directed activity (e.g., purposeless movements) and emotional responses that seem bizarre to others (e.g., smiling or laughing at inappropriate times)
Dyskinesia: involuntary muscle movements, such as jerking, twitching, or tics, which impair voluntary movement
Catatonia: abnormal Behavior and movement, often including catalepsy, purposeless motor activity, strange postures, negativism, and mutism
Catalepsy: a state of muscular rigidity and immobility characterized by unresponsiveness to external stimuli
Bradykinesia: decreased speed of voluntary and involuntary movements
What is Apraxia?
Apraxia is difficulty performing targeted, voluntary movements despite an intact motor function
Ideomotor apraxia: difficulty imitating actions; mismatch between intended expression and gestures (e.g., instead of waving, a patient will scratch his ear)
Ideational apraxia: difficulty planning and completing multistep actions when interacting with objects
Visual motor apraxia: difficulty picking up objects placed in the contralesional visual field
What is Akathisia?
Akathisia is motor restlessness; the constant urge to move
What is Fasciculation?
Fasciculation is involuntary, asynchronous contraction of muscle fascicles within a single motor unit; usually benign but can signify a lower motor neuron lesion.
Also look for Tenderness, Abnormal posture, Atrophy or hypertrophy (examined bilaterally)
Muscle groups are measured to compare specific differences in size.
In neurologic disorders, the small hand muscles are often affected by atrophy.
What is power?
Definition: maximal effort a patient is able to exert from an individual muscle or group of muscles
Patterns of paresis distribution:
Quadriparesis: weakness in all four limbs
Hemiparesis: weakness in half of the body
Paraparesis: weakness affecting both upper or both lower extremities
Monoparesis: paresis affecting a single limb
How to test various Reflexes?
Definition: stretch, monosynaptic reflexes
During reflex testing, the patient should be relaxed (at least the muscles involved in the reflex test should be relaxed). (→ also see: radiculopathy)
Elderly patients may have reduced or absent lower deep tendon reflexes due to normal aging-related changes in muscles and tendons
A reflex to test the integrity of a sensory and motor neuron circuit
Upon tapping of the reflex hammer, activation of the dorsal root ganglion causes firing of the lower motor neuron for the agonist muscle and relaxation of the antagonist muscle, resulting in automatic movement.
An increased DTR indicates an upper motor neuron issue, whereas decreased DTR indicates a LMN, neuromuscular junction, or muscle issue.
Nerve root Tendon reflex Test
Upper limbs C5–C6 Biceps reflex First, the examiner places his/her thumb on the patient’s biceps tendon, then the examiner strikes his/her thumb with a reflex hammer and observes the patient’s forearm movement.
Brachioradialis reflex Striking the lower end of the radius with a reflex hammer elicits movement of the forearm.
C7–C8 Triceps reflex. The examiner holds the patient’s arm (forearm hanging loosely at a right angle) and taps the triceps tendon with a reflex hammer to induce an extension in the elbow joint.
Finger flexor reflex
This reflex is induced by tapping the terminal phalanx of a relaxed finger on the palmar side, while the examiner holds the patient’s hand in level with the proximal phalanges. The test is positive when there is significant flexion in the terminal phalanx of the tapped finger and the thumb, or when the flexion is very asymmetrical comparing both hands.
Lower limbs L2–L4 Adductor reflex Tapping the tendon above the medial condyle of femur elicits the adductor reflex.
Knee reflex Striking the tendon just below the patella (leg is slightly bent) induces knee extension.
L5 Posterior tibial reflex. The tibialis posterior muscle is tapped with a reflex hammer, either just above or below the medial malleolus. The reflex is positive when an inversion of the foot occurs.
S1–S2 Ankle reflex Striking the Achilles tendon with a reflex hammer elicits a jerking of the foot towards its plantar surface. Alternatively, the reflex is triggered by tapping the ball of a foot from the plantar side.
Definition: polysynaptic reflexes elicited by stimulation of the skin
Superficial reflexes are divided into two subgroups:
Pathological superficial reflexes: in case of central motor neuron damage, the reflex response decreases.
Nerve root Reflex Test
T6–T12 Abdominal reflex Abdominal reflexes are tested with the patient lying down. The anterior abdominal wall is lightly stroked with a spatula from lateral to medial (bilaterally) in following areas:
below the costal arch
around the umbilicus
above the inguinal ligament
A normal response is a contraction of the abdominal muscles, while the absence of contractions is indicative of nerve root damage.
L1–L2 Cremasteric reflex. The reflex is elicited by stroking the medial, inner part of the thigh. A normal response is a contraction of the cremaster muscle that pulls up the testis on the same side of the body.
Stroking the skin around the anus with a spatula elicits the anal reflex, which results in a contraction of the anal sphincter muscles.
Bulbocavernosus reflex. The reflex is elicited by squeezing the glans penis or clitoris, resulting in contractions of the pelvic floor muscles.
Brief description: Reflexes that are normal in new-borns and infants, but not in adults, where they may appear in case of diffuse brain injury due to lack of common inhibiting factors
Sucking reflex Stroking the mouth induces sucking activity.
Palmar grasp reflex Stroking the palms elicits finger flexion.
Palmomental reflex Stroking the ipsilateral thenar eminence from proximal to distal induces a short involuntary contraction of the mentalis muscle.
What is Babinski sign?
Babinski sign is the most common and thus most reliable pyramidal tract sign.
These reflexes occur physiologically in healthy infants
Babinski sign. The examiner strokes the sole of a patient’s foot on the lateral edge using, e.g., the handle of a reflex hammer. The sign is positive (pathological) when the big toe extends (dorsiflexes), while the other toes fan out. The test is inconclusive when only the big toe responds.
What is Gordon reflex?
Gordon reflex is the dorsal flexion of the great toe produced by firm lateral pressure on the calf muscles.
What is Gordon sign?
finger phenomenon (Gordon sign)
Gordon sign a sign of organic hemiplegia; with the patient’s elbow resting on a table, the patient’s wrist is grasped by the examiner’s hand, the thumb of which is used to exert pressure on the radial side of the patient’s pisiform bone; if the hemiplegia is organic, some or all of the patient’s fingers become extended and spread out in a fanlike form.
Synonym(s): Gordon sign
Is Babinski abnormal?
Babinski sign, although normal in new-borns and infants, is always pathological in adults!
What is myoclonus or clonus?
Do not confuse clonus with myoclonus! Myoclonus is arrhythmical and defined by sudden jerks of a muscle or group of muscles while clonus is rather rhythmic and defined by repetitive contractions and relaxations of a muscle group!
How to test for Tone?
Definition: resistance of an individual muscle (or a group of muscles) to passive stretching
Assessment: passive movement of the extremities
Upper limb Lower limb
Elbow: The examiner flexes and fully extends the patient’s elbow.
Forearm: (while elbow in 90° position) The examiner supinates and pronates the patient’s hand.
Wrist: The examiner flexes and extends and then twist the patient’s wrist from side to side.
The patient is asked to relax the limbs while lying in the supine position and then roll the legs from side to side.
How to test for Spasticity?
The clasp-knife phenomenon: initial resistance due to increased muscle tone is followed by a sudden decrease in resistance.
The arm of the examiner is placed under the patient’s knee and the examiner briskly lifts the patient’s limb → increased muscle tone in limb
How to test for Rigidity?
Cogwheel rigidity: A resistance resembling a cogwheel movement is observed when the joint of a patient’s extremity is moved by the examiner.
Stiffness and/or inflexibility regardless of movement
How to test for Clonus?
Wrist: The examiner hyperextends the patient’s wrist.
Patellar clonus: The examiner grasps the patient’s patella between the index finger and the thumb, quickly pushes it down distally, and then holds it in this position.
How to test for Foot clonus?
The examiner holds the patient’s leg, with both knee and ankle resting in a 90° flexion.
Then the examiner proceeds to dorsiflex and partially evert the foot forcefully multiple times while sustaining the pressure.
Clonus is seen as a set of involuntary contractions.
How to test for Sensation?
Pathway Assessment Finding
To test for symmetry of touch sensation, the examiner touches the patient’s body at different locations bilaterally.
In cases of suspected radicular lesions, the particular dermatome should be examined individually..
In cases of suspected peripheral nerve lesions, diagnostics should involve checking the areas innervated by the corresponding sensory nerves.
Paraesthesia: abnormal sensation (e.g., tingling, prickling, or “pins and needles”)
Allodynia: painful sensation triggered by a stimulus that is not ordinarily considered painful.
Pain and temperature
Implements such as a broken spatula can be used to test pain sensation bilaterally (e.g., by gently prodding the patient with the object).
Temperature sensation is tested using two objects of different temperatures (e.g., two test tubes with cold and warm water).
Decreased (hypoalgesia) or increased (hyperalgesia) sensitivity to nociceptive stimuli
Pallesthesia (vibration sense)
A tuning fork is hit and placed on a bony projection (e.g., medial malleolus).
The vibration amplitude and thus the vibration intensity decrease over time.
The patient reports when the vibration stops.
Abnormalities of vibration are described as mild, moderate, or severe loss of vibration sense (pallhypesthesia).
Loss of vibration sense may also indicate a peripheral neuropathy or myelopathy.
Proprioception (joint position)
To test proprioception, the most distal joint of the big toe or the distal interphalangeal joint of the thumb are held by its sides and moved up and down.
The patient should be able to identify the positional change with eyes closed.
Abnormalities of proprioception suggest peripheral polyneuropathy or myelopathy.
How to test for Coordination?
Definition: ability to coordinate fluid movements
Rapid alternating movement test
How to test for Gait assessment?
Evidence for vestibular disorders, sensory or cerebellar ataxia (see “Diagnostics” in cerebellar syndromes)
Observation of casual gait: The patient is asked to walk a few steps forwards and backwards.
Normal gait: steady, natural arm swing
Abnormal gait: broad-based or unsteady gait, short-stepping gait
Balance test: The patient is asked to place one foot directly in front of the other as if walking on a tightrope
Foot drop test: The patient is asked to walk on their heels (impossible in the case of deep fibular nerve lesions)
Walking on tiptoes (impossible in the case of tibial nerve lesions)
Test for assessing ataxia (vestibular, sensory, or cerebellar ataxia)
May help to distinguish between sensory and cerebellar ataxia.
The patient is asked to stand with both feet together, raise the arms, and close the eyes.
Positive Romberg: closing the eyes impairs coordination (patient starts swaying, or swaying increases), which is indicative of sensory ataxia.
Closing the eyes does not affect patient’s balance (patient’s swaying does not increase).
Uncontrollable swaying, even with eyes open, is indicative of cerebellar ataxia.
An increased tendency to fall sideways after closing the eyes indicates a vestibular disorder.
What is Unterberger test?
Test for vestibular or cerebellar lesions
The patient is asked to walk on the spot with their eyes closed for 50 paces.
The test is positive when the patient rotates more than 45° around his/her central axis, which is indicative of a cerebellar lesion or vestibular impairment.
What is Trendelenburg sign?
Tests for neurological insufficiency of the gluteus medius and gluteus minimus muscles, which are innervated by the superior gluteal nerve
The patient is asked to stand on one leg
Physiological: when standing on one leg, the pelvis remains level (no compensatory movements of the upper body) → Negative Trendelenburg sign
Pathological: pelvic drop towards the unimpaired, unsupported side → Positive Trendelenburg sign
What is Duchenne sign?
Duchenne sign is torso tilting towards the contralateral side compensates the pelvic drop on the unimpaired side.
Duchenne limp: the Duchenne sign (frequently occurs bilaterally) results in a compensatory to‑and‑fro movement of the torso during walking.
What are Signs of meningeal or nerve root irritation?
They are Kernig sign and Brudzinski sign.
What is Meningism?
Definition: triad of nuchal rigidity, headache, and photophobia, associated with irritation of the inflamed meninges and/or spinal nerves
Examination: The examiner passively flexes the neck of the patient lying in the supine position.
Causes: subarachnoid haemorrhage (SAH), bacterial meningitis, etc.
Additional signs of meningeal or nerve root irritation
What is Straight leg raise test (root L5–S1) Or Kernig sign?
In a supine patient, painful passive extension of the knee when the thigh is flexed at the hip (knee at a 90° angle)
What is Brudzinski sign?
Involuntary lifting of the legs provoked by passive flexion of the neck in a patient in supine position
Lifting of the legs reduces pain associated with tension of the irritated meninges and, especially, the lumbosacral spinal nerves during neck flexion.
What is the Glasgow Coma Scale?
The Glasgow Coma Scale (GCS) is the most common scoring system used to describe the level of consciousness in a person following a traumatic brain injury. Basically, it is used to help gauge the severity of an acute brain injury. The test is simple, reliable, and correlates well with outcome following severe brain injury.
Note that a motor response in any limb is acceptable. The scale is composed of three tests: eye, verbal and motor responses. The three values separately as well as their sum are considered. The lowest possible GCS (graded 1 in each element) is 3 (deep coma or death), while the highest is 15 (fully awake person).
Eye response (E)
There are four grades starting with the most severe:
No opening of the eye
Eye opening in response to pain stimulus. A peripheral pain stimulus, such as squeezing the lunula area of the person’s fingernail is more effective than a central stimulus such as a trapezius squeeze, due to a grimacing effect.
Eye opening to speech. Not to be confused with the awakening of a sleeping person; such people receive a score of 4, not 3.
Eyes opening spontaneously
Verbal response (V)
There are five grades starting with the most severe:
No verbal response
Incomprehensible sounds. Moaning but no words.
Inappropriate words. Random or exclamatory articulated speech, but no conversational exchange. Speaks words but no sentences.
Confused. The person responds to questions coherently but there is some disorientation and confusion.
Oriented. Person responds coherently and appropriately to questions such as the person’s name and age, where they are and why, the year, month, etc.
Motor response (M)
There are six grades:
No motor response
Decerebrate posturing accentuated by pain (extensor response: adduction of arm, internal rotation of shoulder, pronation of forearm and extension at elbow, flexion of wrist and fingers, leg extension, plantarflexion of foot)
Decorticate posturing accentuated by pain (flexor response: internal rotation of shoulder, flexion of forearm and wrist with clenched fist, leg extension, plantarflexion of foot)
Withdrawal from pain (absence of abnormal posturing; unable to lift hand past chin with supraorbital pain but does pull away when nailbed is pinched)
Localizes to pain (purposeful movements towards painful stimuli; e.g., brings hand up beyond chin when supraorbital pressure applied)
Obeys commands (the person does simple things as asked)
What is the interpretation of Glasgow Coma Scale?
Individual elements as well as the sum of the score are important. Hence, the score is expressed in the form “GCS 9 = E2 V4 M3 at 07:35”.
Generally, brain injury is classified as:
Severe, GCS < 8–9
Moderate, GCS 8 or 9–12 (controversial) 
Minor, GCS ≥ 13.
Tracheal intubation and severe facial/eye swelling or damage make it impossible to test the verbal and eye responses. In these circumstances, the score is given as 1 with a modifier attached (e.g. “E1c”, where “c” = closed, or “V1t” where t = tube). Often the 1 is left out, so the scale reads Ec or Vt. A composite might be “GCS 5tc”. This would mean, for example, eyes closed because of swelling = 1, intubated = 1, leaving a motor score of 3 for “abnormal flexion”.
What is PGCS?
The Paediatric Glasgow Coma Scale (English) (also known as Paediatric Glasgow Coma Score (American English) or simply PGCS) is the equivalent of the Glasgow Coma Scale (GCS) used to assess the level of consciousness of child patients. As many of the assessments for an adult patient would not be appropriate for infants, the Glasgow Coma Scale was modified slightly to form the PGCS. As with the GCS, the PGCS comprises three tests: eye, verbal and motor responses. The three values separately as well as their sum are considered. The lowest possible PGCS (the sum) is 3 (deep coma or death) whilst the highest is 15 (fully awake and aware person). The paediatric GCS is commonly used in emergency medical services.
What is the interpretation of PGCS?
Best eye response: (E)
- Eyes opening spontaneously
- Eye opening to speech
- Eye opening to pain
- No eye opening or response
Best verbal response: (V)
- Smiles, oriented to sounds, follows objects, interacts.
- Cries but consolable, inappropriate interactions.
- Inconsistently inconsolable, moaning.
- Inconsolable, agitated.
- No verbal response.
Best motor responses: (M)
- Infant moves spontaneously or purposefully
- Infant withdraws from touch
- Infant withdraws from pain
- Abnormal flexion to pain for an infant (decorticate response)
- Extension to pain (decerebrate response)
- No motor response
Any combined score of less than eight represents a significant risk of mortality.
What is AVPU scale?
The AVPU scale (an acronym from “alert, verbal, pain, unresponsive”) is a system by which a health care professional can measure and record a patient’s level of consciousness.. It is mostly used in emergency medicine protocols, and within first aid.
It is a simplification of the Glasgow Coma Scale, which assesses a patient response in three measures: eyes, voice and motor skills. The AVPU scale should be assessed using these three identifiable traits, looking for the best response of each.
What is the interpretation of AVPU scale?
The AVPU scale has four possible outcomes for recording (as opposed to the 13 possible outcomes on the Glasgow Coma Scale). The assessor should always work from best (A) to worst (U) to avoid unnecessary tests on patients who are clearly conscious. The four possible recordable outcomes are:
Alert: The patient is fully awake (although not necessarily oriented). This patient will have spontaneously open eyes, will respond to voice (although may be confused) and will have bodily motor function.
Verbal: The patient makes some kind of response when you talk to them, which could be in any of the three component measures of eyes, voice or motor – e.g. patient’s eyes open on being asked “Are you OK?”. The response could be as little as a grunt, moan, or slight move of a limb when prompted by the voice of the rescuer.
Pain: The patient makes a response on any of the three component measures on the application of pain stimulus, such as a central pain stimulus like a sternal rub or a peripheral stimulus such as squeezing the fingers. A patient with some level of consciousness (a fully conscious patient would not require a pain stimulus) may respond by using their voice, moving their eyes, or moving part of their body (including abnormal posturing).
Unresponsive: Sometimes seen noted as ‘unconscious’, this outcome is recorded if the patient does not give any eye, voice or motor response to voice or pain.
In first aid, an AVPU score of anything less than A is often considered an indication to get further help, as the patient is likely to be in need of more definitive care. In the hospital or long-term healthcare facilities, caregivers may consider an AVPU score of less than A to be the patient’s normal baseline.
In some emergency medical services protocols, “Alert” can be subdivided into a scale of 1 to 4, in which 1, 2, 3 and 4 correspond to certain attributes, such as time, person, place, and event. For example, a fully alert patient might be considered “alert and oriented x 4” if he/she could correctly identify the time, their name, their location, and the event.
EMS crews may begin with an AVPU assessment, to be followed by a GCS assessment if the AVPU score is below “A.”
The AVPU scale is not suitable for long-term neurological observation of the patient; in this situation, the Glasgow Coma Scale is more appropriate.
What is Blantyre coma scale?
The Blantyre coma scale is a modification of the Paediatric Glasgow Coma Scale, designed to assess malarial coma in children.
It was designed by Drs. Terrie Taylor and Malcolm Molyneux in 1987, and named for the Malawian city of Blantyre, site of the Blantyre Malaria Project.
How to assess Blantyre coma scale?
The score assigned by the Blantyre coma scale is a number from 0 to 5. The score is determined by adding the results from three groups: Motor response, verbal response, and eye movement.
The minimum score is 0 which indicates poor results while the maximum is 5 indicating good results. All scores under 5 are considered abnormal.
1 – Watches or follows
0 – Fails to watch or follow
Best motor response
2 – Localizes painful stimulus (patient’s ability to remove stimuli)
1 – Withdraws limb from painful stimulus
0 – No response or inappropriate response
Best verbal response
2 – Cries appropriately with pain, or, if verbal, speaks
1 – Moan or abnormal cry with pain
0 – No vocal response to pain.
What is Early warning score?
An early warning score (EWS) is a guide used by medical services to quickly determine the degree of illness of a patient. It is based on the vital signs (respiratory rate, oxygen saturation, temperature, blood pressure, pulse/heart rate, AVPU response). Scores were developed in the late 1990s when studies showed that in-hospital deterioration and cardiac arrest was often preceded by a period of increasing abnormalities in the vital signs.
How is EWS interpreted?
A score of five or more is statistically linked to increased likelihood of death or admission to an intensive care unit.
Within hospitals, the EWS is used as part of a “track-and-trigger” system whereby an increasing score produces an escalated response varying from increasing the frequency of patient’s observations (for a low score) up to urgent review by an Emergency Team. Concerns by nursing staff may also be used to trigger such call, as concerns may precede changes in vital signs
What are the Variations of EWS?
Paediatric Early Warning Score PEWS Designed to support the use of Track and Trigger with patients under 16, who have different normal ranges for observations
Modified Early Obstetric Warning Score MEOWS Designed to support the use of Track and Trigger for all women receiving care from maternity services
Modified Early Warning Score MEWS Modified to meet the requirements of many people in various clinical situations.
National Early Warning Score
What is triage?
Triage is the process of determining the priority of patients’ treatments by the severity of their condition or likelihood of recovery with and without treatment. This rations patient treatment efficiently when resources are insufficient for all to be treated immediately; influencing the order and priority of emergency treatment, emergency transport, or transport destination for the patient.
The term comes from the French verb trier, meaning to separate, sort, shift or select. Modern medical triage was invented by Dominique Jean Larrey, a surgeon during the Napoleonic Wars, who “treat[ed] the wounded according to the observed gravity of their injuries and the urgency for medical care, regardless of their rank or nationality, though the general concept of prioritizing by prognosis is foreshadowed in a 17th-century BCE Egyptian document. Triage was used further during World War I by French doctors treating the battlefield wounded at the aid stations behind the front. Those responsible for the removal of the wounded from a battlefield or their care afterwards would divide the victims into three categories
- Those who are likely to live, regardless of what care they receive;
- Those who are unlikely to live, regardless of what care they receive;
- Those for whom immediate care may make a positive difference in outcome.
For many emergency medical services (EMS) systems, a similar model may sometimes still be applied. In the earliest stages of an incident, such as when one or two paramedics exist to twenty or more patients, practicality demands that the above, more “primitive” model will be used. However, once a full response has occurred and many hands are available, paramedics will usually use the model included in their service policy and standing orders.
As medical technology has advanced, so have modern approaches to triage, which are increasingly based on scientific models. The categorizations of the victims are frequently the result of triage scores based on specific physiological assessment findings. Some models, such as the START model may be algorithm-based. As triage concepts become more sophisticated, triage guidance is also evolving into both software and hardware decision support products for use by caregivers in both hospitals and the field
What is the Revised Trauma Score (RTS)?
The Revised Trauma Score (RTS) is a physiologic scoring system, designed for use in based on the initial vital signs of a patient. A lower score indicates a higher severity of injury.
How to use revised trauma scale?
The Revised Trauma Score is made up of three categories: Glasgow Coma Scale, systolic blood pressure, and respiratory rate. The score range is 0–12. In START triage, a patient with an RTS score of 12 is labelled delayed, 11 is urgent, and 3–10 is immediate. Those who have an RTS below 3 are declared dead and should not receive certain care because they are highly unlikely to survive without a significant amount of resources.
What are some of the more common screening tests?
Laboratory screening tests of blood, urine, or other body fluids may help doctors diagnose disease, understand disease severity, and monitor levels of therapeutic drugs. Certain tests, ordered by the physician as part of a regular check-up, provide general information, while others are used to identify specific health concerns. For example, blood tests can provide evidence for infections, toxins, clotting disorders, or antibodies that signal the presence of an autoimmune disease. Genetic testing of DNA extracted from cells in the blood or saliva can be used to diagnose hereditary disorders. Analysis of the fluid that surrounds the brain and spinal cord can detect meningitis, encephalitis, acute and chronic inflammation, viral infections, multiple sclerosis, and certain neurodegenerative disorders. Chemical and metabolic testing of the blood can indicate some muscle disorders, protein or fat-related disorders that affect the brain and inborn errors of metabolism. Blood tests can monitor levels of therapeutic drugs used to treat epilepsy and other neurological disorders. Analysing urine samples can reveal toxins, abnormal metabolic substances, proteins that cause disease, or signs of certain infections.
What are genetic tests in neurology?
Genetic testing of people with a family history of a neurological disease can determine if they are carrying one of the genes known to cause the disorder. Genetic counselling may be recommended for patients, or parents of children being tested, to help them understand the purpose of the tests and what the results could mean. Genetic testing that is used for diagnosis or treatment should be done in a laboratory that has been certified for clinical testing. Clinical testing can look for mutations in specific genes or in certain regions of several genes. This testing may use a panel of genes for a specific type of disease (for example, infant-onset epilepsy) or a test known as whole exome sequencing. Exomes are the parts of the genome formed by exons, which code for proteins. Exome sequencing may take several months to analyse. Clinicians and researchers also sequence whole exomes or whole genomes to discover new genes that cause neurological disorders. These genes may eventually be used for clinical testing in more focused panels.
Prenatal genetic testing can identify many neurological disorders and genetic abnormalities in utero (while the child is inside the mother’s womb).
The mother’s blood can be screened for abnormalities that suggest a risk for a genetic disorder. Cell-free DNA from the mother’s blood can also be used to look for Down syndrome and some chromosomal disorders.
Doctors may also use a type of blood test called a triple screen in order to identify some genetic disorders, including trisomies (disorders such as Down syndrome in which the foetus has an extra chromosome) in an unborn baby. A blood sample is taken from a pregnant woman and tested for three substances: alpha-fetoprotein, human chorionic gonadotropin, and estriol. The test is performed between the 15th and 20th week of pregnancy. It usually takes several days to receive results from a triple screen. Abnormal results of a triple screen may indicate a possible problem such as spina bifida (the incomplete development of the brain, spinal cord, or the cord’s protective coverings) or a chromosome abnormality. However, the test has many false positive results, so additional testing is needed to confirm if there is a problem.
Amniocentesis is usually done at 14-16 weeks of pregnancy. It tests a sample of the amniotic fluid in the womb for genetic defects (the cells found in the fluid and the foetus have the same DNA). Under local anaesthesia, a thin needle is inserted through the woman’s abdomen and into the womb. About 20 millilitres of fluid (roughly 4 teaspoons) is withdrawn and sent to a lab for evaluation. Test results often take 1-2 weeks.
Chorionic villus sampling is performed by removing and testing a very small sample of the placenta during early pregnancy. The sample, which contains the same DNA as the foetus, is removed by catheter or fine needle inserted through the cervix or by a fine needle inserted through the abdomen. Results are usually available within 2 weeks.
What is CT scan?
Brain scans include several types of imaging techniques used to diagnose tumors, blood vessel malformations, stroke, injuries, abnormal brain development, and haemorrhage in the brain. Types of brain scans include computed tomography (CT), magnetic resonance imaging (MRI), positron emission tomography (PET), and single proton emission (SPECT) scans.
Computed tomography (CT scan) uses X-rays to produce two-dimensional images of organs, bones, and tissues. A CT scan can aid in proper diagnosis by showing the area of the brain that is affected. CT scans can be used to quickly detect haemorrhage in the brain and to determine if someone who has had a stroke can safely receive intravenous treatment to dissolve clots. CT scans also may be used to detect bone and vascular irregularities, brain tumors and cysts, brain damage from head injury, hydrocephalus, brain damage causing epilepsy, and encephalitis, among other disorders. A contrast dye may be injected into the bloodstream to highlight the different tissues in the brain. A CT of the spine can be used to show herniated discs, spine fractures, or spinal stenosis (narrowing of the spinal canal).
What is MRI?
Magnetic resonance imaging (MRI) uses computer-generated radio waves and a powerful magnetic field to produce detailed images of body tissues. Using different sequences of magnetic pulses, MRI can show anatomical images of the brain or spinal cord, measure blood flow, or reveal deposits of minerals such as iron. MRI is used to diagnose stroke, traumatic brain injury, brain and spinal cord tumors, inflammation, infection, vascular irregularities, brain damage associated with epilepsy, abnormally developed brain regions, and some neurodegenerative disorders. MRI is also used to diagnose and monitor disorders such as multiple sclerosis. A contrast dye may be injected into the vein to enhance visibility of certain areas or tissues.
What is fMRI?
Functional MRI (fMRI) uses the blood’s magnetic properties to produce real-time images of blood flow to particular areas of the brain. fMRI can pinpoint areas of the brain that become active and show how long they stay active. This imaging process may be used to localize brain regions for language, motor function, or sensation prior to surgery for epilepsy. Researchers use fMRI to study head injury and degenerative disorders such as Alzheimer’s disease.
What is PET?
Positron emission tomography (PET) scans provide two- and three-dimensional pictures of brain activity by measuring radioactive isotopes that are injected into the bloodstream. PET scans of the brain are used to detect or highlight tumors and diseased tissue, show blood flow, and measure cellular and/or tissue metabolism. PET scans can be used to evaluate people who have epilepsy or certain memory disorders, and to show brain changes following injury. PET may be ordered as a follow-up to a CT or MRI scan to give the physician a greater understanding of specific areas of the brain that may be involved with problems. PET scans are performed by skilled technicians at highly sophisticated medical facilities in a hospital or at an outpatient testing facility. A low-level radioactive isotope, also called a tracer, is injected into the bloodstream and the tracer’s uptake in the brain is measured. The person lies still while overhead sensors detect gamma rays in the body’s tissues. A computer processes the information and displays it on a video monitor or on film. Using different compounds, more than one brain function can be traced simultaneously. PET is painless and uses small amounts of radioactivity. The length of test time depends on the part of the body to be scanned.
What is SPET?
Single photon emission computed tomography (SPECT) is a nuclear imaging test that can be used to evaluate certain brain functions. As with a PET scan, a radioactive isotope, or tracer, is injected intravenously into the body. A SPECT scan may be ordered as a follow-up to an MRI to diagnose tumors, infections, brain regions involved in seizures, degenerative spine disease, and stress fractures. A dopamine transporter imaging with single-photon emission computed tomography (DaT-SPECT) scan can be used to help diagnose Parkinson disease. During a SPECT scan, the person lies on a table while a gamma camera rotates around the head and records where the radioisotope has travelled. hat information is converted by computer into cross-sectional slices that are stacked to produce a detailed three-dimensional image of tracer within the brain. The test is performed at either an outpatient imaging center or a hospital.
What are the precautions before doing an MRI?
Due to the incredibly strong magnetic field generated by an MRI, people with implanted medical devices such as a pacemaker or infusion device generally should not have MRIs. In certain circumstances facilities may have equipment to temporarily stop and reset the implanted device’s programming in order to allow MRI.
What are additional tests used to diagnose neurological disorders?
Angiography is a test that involves injecting dye into the arteries or veins to detect blockage or narrowing. A cerebral angiogram can show narrowing or obstruction of an artery or blood vessel in the brain, head, or neck. It can determine the location and size of an aneurysm or vascular malformation. Angiograms are used in certain strokes where there is a possibility of unblocking the artery using a clot retriever. Angiograms can also show the blood supply of a tumour prior to surgery or embolectomy (surgical removal of a blood clot or other material that is blocking a blood vessel).
What is biopsy?
Biopsy involves the removal and examination of a small piece of tissue from the body. Muscle or nerve biopsies are used to diagnose neuromuscular disorders. A small sample of muscle or nerve is removed under local anaesthetic (pain-relieving medication) and studied under a microscope. The muscle sample may be removed either surgically, through a slit made in the skin, or by needle biopsy, in which a thin hollow needle is inserted through the skin and into the muscle. A piece of the nerve may be removed through a small surgical incision near the ankle, or occasionally near the wrist. Muscle and nerve biopsies are usually performed in an outpatient testing facility. A skin biopsy can be used to measure small nerve fibres or to test for certain metabolic disorders. A small piece of skin is removed under local anaesthesia, usually in an office setting. A brain biopsy, used to determine tumour type or certain infections, requires surgery to remove a small piece of the brain or tumour. A brain biopsy is an invasive procedure that carries its own risks.
What is CSF analysis?
Cerebrospinal fluid analysis involves the removal of a small amount of the fluid that surrounds the brain and spinal cord. The procedure is commonly called a lumbar puncture or spinal tap. The fluid is tested to detect evidence of brain haemorrhage, infection, multiple sclerosis, metabolic diseases, or other neurological conditions Pressure inside the skull can be measured to detect conditions such as a false brain tumour. The lumbar puncture may be done as an inpatient or as an outpatient procedure. During the lumbar puncture the person will either lie on one side, with knees close to the chest, or lean forward while sitting on a table, bed, or massage chair. The person’s back will be cleaned and injected with a local anaesthetic. The injection may cause a slight stinging sensation. Once the anaesthetic has taken effect, a special needle is inserted between the vertebrae into the spinal sac and a small amount of fluid (usually about three teaspoons) is withdrawn for testing. Most people will only feel a sensation of pressure as the needle is inserted. Generally, people are asked to lie flat for an hour or two to reduce the after-effect of headache. There is a small risk of nerve root injury or infection from a lumbar puncture. The procedure takes about 45 minutes.
What is EEG?
Electroencephalography, or EEG, monitors the brain’s electrical activity through the skull. EEG is used to help diagnose seizure disorders and metabolic, infectious, or inflammatory disorders that affect the brain’s activity. EEGs are also used to evaluate sleep disorders, monitor brain activity when a person has been fully anesthetized or loses consciousness, and may be used to confirm brain death.
What is an intracranial EEG?
In people undergoing evaluation for epilepsy surgery, electrodes may be inserted through a surgical opening in the skull to reduce signal interference. This is called an intracranial EEG. People typically remain in a hospital epilepsy monitoring unit while implanted electrodes are in place. During this time, the brain is monitored for seizures in order to determine where the seizures originate. People may also be asked to perform certain types of tasks (e.g., reading, speaking, or certain limited motor activities) so that the EEG can be used to identify brain regions that are important for normal function.
What is EMG?
Electromyography, or EMG, is used to diagnose nerve and muscle disorders, spinal nerve root compression, and motor neuron disorders such as amyotrophic lateral sclerosis. EMG records the electrical activity in the muscles. Muscles develop abnormal electrical signals when there is nerve or muscle damage. During an EMG, very fine needles or wires are inserted into a muscle to assess changes in electrical signals at rest and during movement. The needles are attached through wires to an EMG machine. Testing may take place in a doctor’s office or clinic and lasts an hour or longer, depending on the number of muscles and nerves to be tested. Because of a slight risk of bruising or bleeding, people will be asked if they are on aspirin or blood thinners. Most people find this test to be somewhat uncomfortable.
What is NCS?
An EMG is usually done in conjunction with a nerve conduction study (NCS). An NCS measures the nerve’s ability to send a signal, as well as the speed (nerve conduction velocity) and size of the nerve signal. A set of recording electrodes is taped to the skin over the muscles or skin. Wires connect the electrodes to an EMG machine. A small electrical pulse (similar to the sensation of static electricity) is given on the skin a short distance away to stimulate the nerve to the muscle or skin. The electrical signal is viewed on the EMG machine. The physician then reviews the response to verify any nerve damage or muscle disease. There is minimal discomfort and no risk associated with this test.
What is ENG?
Electronystagmography (ENG) describes a group of tests used to diagnose involuntary eye movement, dizziness, and balance disorders. The test is performed at a clinic or imaging center. Small electrodes are taped on the skin around the eyes to record eye movements. If infrared photography is used in place of electrodes, the person being tested wears special goggles that help record the information. Both versions of the test are painless and risk-free.
What are evoked potentials?
Evoked potentials, also called evoked response, measure the electrical signals to the brain generated by hearing, touch, or sight. Evoked potentials are used to test sight and hearing (especially in infants and young children) and can help diagnose such neurological conditions as multiple sclerosis, spinal cord injury, and acoustic neuroma (small tumors of the acoustic nerve). Evoked potentials are also used to monitor brain activity among coma patients, and confirm brain death.
What are Auditory evoked potentials?
Auditory evoked potentials (also called brain stem auditory evoked response) can assess hearing loss and damage to the acoustic nerve and auditory pathways in the brainstem, and detect acoustic neuromas. The person being tested sits in a soundproof room and wears headphones. Clicking sounds are delivered one at a time to one ear while a masking sound is sent to the other ear. Each ear is usually tested twice, and the entire procedure takes about 45 minutes.
What are Visual evoked potentials?
Visual evoked potentials detect loss of vision from optic nerve damage (for example from multiple sclerosis). The person sits close to a screen and is asked to focus on the center of a shifting checkerboard pattern. One eye is tested at a time. Each eye is usually tested twice. Testing takes 30-45 minutes.
What are Somatosensory evoked potentials (SSEPs)?
Somatosensory evoked potentials (SSEPs) measure responses from electrical stimuli to the nerves. In addition to electrodes on the scalp, electrodes are pasted to the arms, leg, and back to measure the signal as it travels from the peripheral nerves to the brain. Tiny electrical shocks are delivered by electrodes pasted to the skin over a nerve in an arm or leg. SSEPs may be used to help diagnose multiple sclerosis, spinal cord compression or injury, and certain metabolic or degenerative diseases.
What is Myelography?
Myelography involves the injection of contrast dye into the spinal canal to enhance imaging of the spine, by CT or by X-ray. Myelograms have mostly been replaced by MRI, but may be used in special situations. For example, myelograms may be used to diagnose tumors of the spine or spinal cord or spinal cord compression from herniated discs or fractures. The procedure takes about 60 minutes and can be performed as an outpatient procedure. Following an injection of anaesthesia to a site between two vertebrae in the lower back, a small amount of the cerebrospinal fluid is removed by spinal tap (see cerebrospinal fluid analysis, above). Contrast dye is injected into the spinal canal and a CT scan or a series of x-rays is taken. People may experience some pain during the spinal tap as well as headache following the spinal tap. There is a slight risk of fluid leakage or allergic reaction to the dye.
What is polysomnogram?
A polysomnogram measures brain and body activity during sleep. It is performed over one or more nights at a sleep center. Electrodes are pasted or taped to the person’s scalp, eyelids, and/or chin. Throughout the night and during the various wake/sleep cycles, the electrodes record brain waves, eye movement, breathing, leg and skeletal muscle activity, blood pressure, and heart rate. The person may be videotaped to note any movement during sleep. Results are then used to identify any characteristic patterns of sleep disorders, including restless legs syndrome, periodic limb movement disorder, insomnia, and breathing disorders such as sleep apnoea. Polysomnograms are non-invasive, painless, and risk-free.
What is Thermography?
Thermography (also known as digital infrared thermal imaging) uses infrared sensing devices to measure small temperature changes and thermal abnormalities between the two sides of the body or within a specific organ. Some scientists question its use in diagnosing neurological disorders. It may be used to evaluate complex regional pain syndromes and certain peripheral nerve disorders, and nerve root compression. It is performed at a specialized imaging center, using infrared light recorders to take pictures of the body. The information is converted into a computer-generated two-dimensional picture of abnormally cold or hot areas indicated by colour or shades of black and white. Thermography does not use radiation and is safe, risk-free, and non-invasive.
What is Ultrasound imaging in neurology?
Ultrasound imaging, also called ultrasonography, uses high-frequency sound waves to obtain images inside the body. During an ultrasound examination, the person lies on a table or reclines in an examination chair. A jelly-like lubricant is applied to the bare skin and a transducer, which both sends and receives high-frequency sound waves, is passed over the body. The sound wave echoes are recorded and displayed as a computer-generated real-time visual image of the structure or tissue being examined. Ultrasound is painless, non-invasive, and risk-free. The test is performed on an outpatient basis and takes between 15 and 30 minutes to complete.
What are types of Ultrasound imaging in neurology?
Carotid doppler ultrasound is used to measure flow in arteries and blood vessels in the neck.
Transcranial Doppler ultrasound is used to view blood flow in certain arteries and blood vessels inside the skull. Carotid dopplers and transcranial dopplers are used to assess the risk of stroke.
Duplex ultrasound refers to ultrasound studies that are combined with anatomical ultrasound.
What is X ray?
X-rays of a person’s chest and skull may be taken as part of a neurological work-up. X-rays can be used to view any part of the body, such as a joint or major organ system. In a conventional x-ray, a concentrated burst of low-dose ionized radiation passes through the body and onto a photographic plate. Since calcium in bones absorbs x-rays more easily than soft tissue or muscle, the bony structure appears white on the film. Any vertebral misalignment or fractures can be seen within minutes. Tissue masses such as injured ligaments or a bulging disc are not visible on conventional x-rays. This fast, non-invasive, painless procedure is usually performed in a doctor’s office or at a clinic.
What is Fluoroscopy?
Fluoroscopy is a type of x-ray that uses a continuous or pulsed beam of low-dose radiation to produce continuous images of a body part in motion. The fluoroscope (x-ray tube) is focused on the area of interest and pictures are either videotaped or sent to a monitor for viewing. Fluoroscopy is used to evaluate swallowing and can be used for other procedures, such as a lumbar puncture, angiogram for clot removal, or myelogram.
What is Abadie’s Sign?
Abadie’s sign is the absence or diminution of pain sensation when exerting deep
pressure on the Achilles tendon by squeezing. This is a frequent finding in the
tabes dorsalis variant of neurosyphilis, i.e. with dorsal column disease.
What does Argyll Robertson pupils mean?
Argyll Robertson pupils (AR pupils or, colloquially, ” prostitute’s pupils “) are bilateral small pupils that reduce in size on a near object (i.e., they accommodate), but do not constrict when exposed to bright light (i.e., they do not react to light).
Why is Argyll Robertson pupil phenomenon associated with prostitutes?
When you say the pupils accommodate, it means that they reduce in size when a person views an object in near distance. This observation has been noted as a useful clinical sign in those people suffering from syphilis.
What is Light Near Dissociation?
This is a stronger response to near objects than light response. Light-near dissociation, also referred to as pupillary light-near dissociation may occur due to weakness of the pupillomotor input, dorsal midbrain syndrome, misdirection of ciliary muscle fibres, or the Argyll Robertson pupil phenomenon.
There are other conditions and situations that may cause light-near dissociation and they include:
What is paradoxical respiration?
paradoxical respiration. a type of breathing in which all or part of a lung inflates during inspiration and balloons out during expiration; the opposite of normal chest motion. Called also paradoxical motion.
the following conditions can make people more likely to develop paradoxical breathing:
Obstructive sleep apnea
This condition disrupts the inflow of oxygen and exhalation of carbon dioxide. Eventually, the chest wall can turn inwards instead of outwards, which can cause paradoxical breathing.
Trauma or injury to the chest wall
Injury or trauma can separate your ribs from your chest wall. This separated section will no longer expand when you inhale. Sometimes this section can start to push in, causing paradoxical breathing.
Disruption of nerves
Phrenic nerves control the movement of your diaphragm and other key muscles in your torso. Nerve damage may disrupt the normal movement of muscles in your torso and cause changes in your breathing. This can be caused by a neurodegenerative disease, such as multiple sclerosis, muscular dystrophy, and Guillain-Barre syndrome. It can also be caused by lung cancer and injuries to the chest wall.
Deficiencies in certain minerals, including potassium, magnesium, and calcium, can impact breathing. For example, a low amount of calcium may disrupt the nervous system and impair breathing.
Weak respiratory muscles
In some cases, the muscles that support that respiratory pathways become weak, which disrupts breathing patterns. This can happen in neuromuscular conditions such as multiple sclerosis and ALS.
What is Beevor s sign?
Beevor’s sign is medical sign seen in the selective weakness of the lower abdominal muscles, involving the movement of the navel towards the head on flexing the neck. The sign is named after Charles Edward Beevor, an English neurologist (1854–1908) who first described it.
What is the Beevor s Axiom?
Beevor’s Axiom is the idea that the brain does not know muscles, only movements. In other words, the brain registers the movements that muscles combine to make, not the individual muscles that are making the movements. Hence, this is why one can sign their name (albeit poorly) with their foot.
What is a bee VOR sign?
When a patient with a spinal cord lesion in the lower thoracic region lies supine and attempts to flex the neck and upper trunk, the umbilicus moves cephalad, due to weakness of the lower abdominal muscles; 2. with functional limb disorders, the antagonist and the agonist muscles both contract on attempted movement.
What is upper motor neuron syndrome UMNS?
Upper motor neuron syndrome (UMNS) is the motor control changes that can occur in skeletal muscle after an upper motor neuron lesion. Following upper motor neuron lesions, affected muscles potentially have many features of altered performance
What is the function of upper motor neuron lesion?
Upper motor neuron lesions prevent signals from traveling from your brain and spinal cord to your muscles. Your muscles can’t move without these signals and become stiff and weak. Damage to upper motor neurons leads to a group of symptoms called upper motor neuron syndrome.
Where do upper motor neurons synapse?
At this point, the upper motor neuron synapses with the lower motor neuron, each of whose axons innervate a fibre of skeletal muscle. These neurons connect the brain to the appropriate level in the spinal cord, from which point nerve signals continue to the muscles by means of the lower motor neurons.
What is diplopia?
Diplopia is the simultaneous perception of two images of a single object that may be displaced horizontally, vertically, diagonally (i.e., both vertically and horizontally), or rotationally in relation to each other. It is usually the result of impaired function of the extraocular muscles, where both eyes are still functional, but they cannot turn to target the desired object.
What are the causes of diplopia?
Double vision can occur with one eye or both. If it’s in one eye when the other is closed, it is less worrisome, but still serious. If it occurs when both eyes are open, it could signal a major disorder.
Double vision when the injured eye is open:
Cornea: The clear window into your eye. Its main job is to focus light. If your double vision goes away when you cover one eye, you might have cornea damage in the uncovered eye.
If only one cornea is warped, you may only see double in that eye. Glasses can probably fix the problem. Damage can be from:
Keratoconus, when your cornea becomes cone-shaped
Infections, like shingles or herpes
Lens: It sits behind your pupil and helps focus light onto your retina.
Cataracts are the most common lens problem. Surgery almost always fixes them.
Double vision when both eyes are open:
Muscles: They control eye movement and keep the eyes aligned with each other. If a muscle in one eye is weak, then it won’t move in sync with the healthy eye. When you look in a direction controlled by the weak muscle, you see double. Eye muscle problems can be from:
A problem with the nerves that control them.
Myasthenia gravis, an autoimmune illness that stops nerves from telling the muscles what to do. Early signs include double vision and drooping eyelids.
Graves’ disease, a thyroid condition that affects eye muscles. It can cause vertical diplopia, where one image is on top of the other.
Nerves. They carry information from your brain to your eyes. Problems with them can lead to double vision:
Multiple sclerosis can affect nerves anywhere in your brain or spinal cord. If it damages the nerves that control your eyes, you may see double.
Guillain-Barre syndrome is a nerve condition that causes progressive weakness. Sometimes, the first symptoms are in your eyes and include double vision.
Diabetes can cause nerve damage to the muscles that move your eyes. That can lead to double vision.
Brain: The nerves that control your eyes connect directly to your brain, where images are processed. Many causes of double vision start in the brain. They include:
Increased pressure inside the brain from trauma, bleeding, or infection
What are False localizing signs?
In majority of patients, a particular neurological sign indicating pathology at a specific locus or pathway within the nervous system.
False localizing signs refer to neurological signs that reflect pathology distant from the expected anatomical locus which make challenges in traditional clinicoanatomical correlation.
False localizing neurological signs have presented significant challenges to clinical neurologists.
Awareness of the possibility of false localizing signs, and knowledge of the situations in which they are most likely to occur, is necessary.
False localizing signs may be indicative of serious, even life threatening, pathology within neural pathways.
False localizing signs occur in two major contexts:
Raised intracranial pressure
Spinal cord lesions
False localizing signs due to intracranial lesions
Sixth nerve palsy
Sixth nerve palsy, either unilateral or bilateral, is the classic example of a false localizing sign.
The pathophysiological mechanism includes:
stretching of the nerve in its long intracranial course
Compression against the petrous ligament or the ridge of the petrous temporal bone
backward brain stem displacement
Fifth and seventh nerve palsy
Has also been reported with raised intracranial pressure (e.g., Posterior fossa neoplasms or more diffuse neoplastic disease, and with IIH).
This dysfunction may be hypoactive or hyperactive, manifesting with negative or positive symptoms:
Trigeminal neuropathy vs. Trigeminal neuralgia; sensory symptoms more predominant
Facial palsy of LMN type vs. Hemifacial spasm
Most often occur at the same time as, or after, the development of sixth nerve palsies.
Trigeminal neuralgia and hemifacial spasm have only been reported in the context of posterior fossa mass lesions, most usually tumors.
Third nerve palsy
Uncal herniation may be associated with third nerve palsy.
Unilateral mydriasis (“Hutchinson’s pupil”) may be the earliest sign.
Fixed dilated pupil is ipsilateral to a supratentorial mass but can contralateral 3rd nerve as a false localizing sign.
The possible causes: extrinsic compression of the third nerve on the margin of the tentorium or kinking of the nerve over the clivus.
Herniation of the temporal lobe through the tentorial notch may successively compress the third nerve and the ipsilateral cerebral peduncle resulting into ipsilateral 3rd nerve palsy and contralateral hemiparesis.
On occasion, herniation may be associated with a false localising ipsilateral hemiparesis, known as the Kernohan notch phenomenon in which the free edge of the tentorium compresses the contralateral crus cerebri.
Other “False localizing signs” with intracranial lesions
- Trochlear nerve palsy has occasionally been described; it might be overlooked because the signs are subtle
- Unilateral hearing loss has been reported in IIH, although tinnitus is the more common otological problem in this condition
- Unilateral papilloedema be described as false localising when associated with contralateral visual loss and optic atrophy due to sub frontal or middle cranial fossa en plaque meningioma (Foster-Kennedy syndrome)
False localizing signs with spinal cord lesions
Foramen magnum and upper cervical cord
Lesions at the level of the foramen magnum may produce false localizing signs: paraesthesia in the hands and lower motor neuron signs in the upper limbs.
Similarly, a syndrome of “numb and clumsy hands” has been described with midline cervical disc protrusions at the C3/C4 level; concurrent with numbness of fingertips and palms, there may be a tightening sensation at mid-thoracic level.
Cervical spinal cord lesions at or above the level of C4 in which finger and hand dysaesthesia with hand muscle atrophy preceded limb spasticity or gait disturbance have been reported.
Three pathophysiological mechanisms have been proposed: arterial blood supply compromise, venous compression and stasis, mechanical stress over the spinal cord.
Lower cervical and upper thoracic cord
Because of the anatomical decussation of spinothalamic tract fibers two or three segments above the level at which they enter the spinal cord from their respective dermatomes, sensory levels two or three segments distant from the level of cord pathology to be observed clinically.
More distant sensory and motor signs may be observed.
Compressive cervical myelopathy may produce a false localizing thoracic sensory level, sometimes called a mid-thoracic girdle sensation, in addition to lower limb weakness and hyperreflexia.
Lumbar spinal disease may be simulated by more rostral pathology; for example, urinary retention, leg weakness, and lumbar sensory findings may be the presenting features of high thoracic cord compression (clinicoradiological discrepancy of as much as 11 segments).
What is a Kernohan notch?
The Kernohan’s notch is a secondary phenomenon that results from a major primary injury. Non-tumoral, non-traumatic, intracranial haemorrhage rarely causes this phenomenon. A wide range of serious injuries can cause an increase in intracranial pressure to trigger the formation of a Kernohan’s notch.
What causes hemiplegia in Kernohan s Notch?
Kernohan’s Notch: A Forgotten Cause of Hemiplegia—CT Scans Are Useful in This Diagnosis Hemiparesis ipsilateral to a cerebral lesion can be a false localizing sign. This is due to midline shift of the midbrain resulting in compression of the contralateral pyramidal fibers on the tough dural reflection tentorium cerebelli.
What is the diagnosis of functional weakness?
In the diagnosis of functional weakness and sensory disturbance, positive physical signs are as important as absence of signs of disease. Motor signs, particularly Hoover’s sign, are more reliable than sensory signs, but none should be used in isolation and must be interpreted in the overall context of the presentation. It
What is the significance of Hoover s sign?
Hoover’s sign (leg paresis) Hoover’s sign of leg paresis is one of two signs named for Charles Franklin Hoover. It is a maneuver aimed to separate organic from non-organic paresis of the leg. The sign relies on the principle of synergistic contraction.
What is one Hoover sign?
One Hoover’s sign refers to a pulmonary test, and the second tests for true incomplete paralysis in one leg.
The test for the sign comes in two parts and is performed while the patient lies on his back on an examining table and the doctor, standing at the patient’s feet, places her hands under the patient’s heels.
If the patient is making an honest effort, the examiner should feel the “normal” limb’s heel extending (pushing down) against his or her hand as the patient tries to flex (raise) the “weak” leg’s hip. Feeling this would indicate an organic cause of the paresis. If the examiner does not feel the “normal” leg’s heel pushing down as the patient flexes the hip of the “weak” limb, then this suggests functional weakness (sometimes called “conversion disorder”), i.e. that effort is not being transmitted to either leg.
What is Hoover’s sign in pulmonology?
Hoover’s sign in pulmonology is one of two signs named for Charles Franklin Hoover. It refers to inward movement of the lower rib cage during inspiration, – instead of outward as is normal – implying a flat, but functioning, diaphragm, often associated with COPD.
What is Jendrassik maneuver?
The Jendrassik maneuver is a medical maneuver wherein the patient clenches the teeth, flexes both sets of fingers into a hook-like form and interlocks those sets of fingers together. The tendon below the patient’s knee is then hit with a reflex hammer to elicit the patellar reflex. The elicited response is compared with the reflex result of the same action when the maneuver is not in use.
How does the Jendrassik maneuver work?
The Jendrassik maneuver to reinforce knee-jerk. The Jendrassik maneuver is a medical maneuver wherein the patient clenches the teeth, flexes both sets of fingers into a hook-like form, and interlocks those sets of fingers together. The tendon below the patient’s knee is then hit with a reflex hammer to elicit the patellar reflex.
Can Jendrassik maneuver be used to elicit deep tendon reflexes?
It is important to note that normal individuals can have diminished deep tendon reflexes. The Jendrassik maneuver can be used to elicit deep tendon reflexes in this situation. The patient is asked to interlock the fingers of both hands and pull them apart.
What is Jendrassik maneuver also used for?
The Jendrassik maneuver can also be used to distract patients when performing other tests or procedures and any suitable distraction may be used; for example, when looking for Romberg’s sign.
What is Osinski reflex”?
The bulbocavernosus reflex (BCR), bulbospongiosus reflex (BSR) or “Osinski reflex” is a polysynaptic reflex that is useful in testing for spinal shock and gaining information about the state of spinal cord injuries (SCI). Bulbocavernosus is an older term for bulbospongiosus, thus this reflex may also be referred to as the bulbospongiosus reflex.
Is bulbocavernosus reflex present in spinal cord injuries or sci?
Bulbocavernosus reflex must be present before classifying any SCI as a complete injury, otherwise, patients may be considered in spinal shock with incomplete injuries.
What is the function of bulbocavernosus reflex?
It is a superficial reflex that is useful in paraplegia. The bulbocavernosus reflex is an oligosynaptic reflex mediated through the S2–S4 spinal cord segments
What is persistent loss of the bulbocavernosus reflex?
Persistent loss of the bulbocavernosus reflex may be a result of a conus medullaris injury (eg from an L1 burst fracture) The reflex center in the S2–S4 spinal segment.
What is Bell’s Palsy?
Bell’s palsy is an idiopathic peripheral (lower motor neurone) facial weakness
(prosopoplegia). It is thought to result from viral inflammation of the facial
(VII) nerve. Other causes of lower motor neurone facial paresis may need to be
excluded before a diagnosis of Bell’s palsy can be made.
In the majority of patients with Bell’s palsy (idiopathic facial paresis), spontaneous recovery occurs over 3 weeks to 2 months. Poorer prognosis is associated
with older age (over 40 years) and if no recovery is seen within 4 weeks of onset.
Meta-analyses suggest that steroids are associated with better outcome than no
treatment, but that acyclovir alone has no benefit.
What is Bell’s Phenomenon, Bell’s Sign?
Bell’s phenomenon or sign is reflex upward, and slightly outward, deviation of
the eyes in response to forced closure, or attempted closure, of the eyelids. This
is a synkinesis of central origin involving superior rectus and inferior oblique
muscles. It may be very evident in a patient with Bell’s palsy (idiopathic facial
nerve paralysis) attempting to close the paretic eyelid. The reflex indicates intact
nuclear and intranuclear mechanisms of upward gaze, and hence that any defect
of up gaze is supranuclear. However, in making this interpretation it should be
remembered that perhaps 10–15% of the normal population do not show a Bell’s
Bell’s phenomenon is usually absent in progressive supranuclear palsy and is
only sometimes spared in Parinaud’s syndrome.
What is Benediction Hand?
Median nerve lesions in the axilla or upper arm cause weakness in all
median nerve innervated muscles, including flexor digitorum profundus. Thus
on attempting to make a fist, impaired flexion of the index and middle fingers,
complete and partial, respectively, but with normal ring and little finger flexion
(ulnar nerve mediated) results in a hand posture likened to that of a priest saying
benediction (also sometimes known as Benedictine hand or orator’s hand).
What is Bielschowsky’s Sign, Bielschowsky’s Test?
Bielschowsky’s sign is head tilt towards the shoulder, typically towards the side
contralateral to a trochlear (IV) nerve palsy. The intorsion of the unaffected eye
brought about by the head tilt compensates for the double vision caused by the
unopposed extorsion of the affected eye. Very occasionally, head tilt is paradoxical, i.e. towards the involved side: presumably the greater separation of images
thus, produced allows one of them to be ignored.
Bielschowsky’s (head tilt) test consists of the examiner tipping the patient’s
head from shoulder to shoulder to see if this improves or exacerbates double
vision, as will be the case when the head is, respectively, tilted away from or
towards the affected side in a unilateral trochlear (IV) nerve lesion. The test
is usually negative in a skew deviation causing vertical divergence of the eyes.
This test may also be used as part of the assessment of vertical diplopia to see
whether hypertropia changes with head tilt to left or right; increased hypertropia
on left head tilt suggests a weak intortor of the left eye (superior rectus); increased
hypertropia on right head tilt suggests a weak intortor of the right eye (superior
What is Binasal Hemianopia?
Of the hemianopic defects, binasal hemianopia, suggesting lateral compression of the chiasm, is less common than bitemporal hemianopia. Various
causes are recorded including syphilis, glaucoma, drusen, and chronically raised intracranial pressure.
What is Bitemporal Hemianopia?
Bitemporal hemianopia due to chiasmal compression, for example, by a pituitary
lesion or craniopharyngioma, is probably the most common cause of a heteronymous hemianopia. Conditions mimicking bitemporal hemianopia include
congenitally tilted discs, nasal sector retinitis pigmentosa, and papilloedema with greatly enlarged blind spots.
What is Blepharospasm?
Blepharospasm is a focal dystonia of the orbicularis oculi resulting in repeated
involuntary forced eyelid closure, with failure of voluntary eye opening. Usually
bilateral in origin, it may be sufficiently severe to result in functional blindness. The condition typically begins in the sixth decade of life and is more
common in women than in men. Blepharospasm may occur in isolation
(‘benign essential blepharospasm’), or in combination with other involuntary
movements which may be dystonic (orobuccolingual dystonia or Meige syndrome; limb dystonia) or dyspraxic (eyelid apraxia), or in association with another neurological disorder such as Parkinson’s disease. Other examples of ‘secondary blepharospasm’ include drug therapy (neuroleptics, levodopa) and lesions of the brainstem and more rarely cerebellum and striatum. Like
other forms of dystonia, blepharospasm may be relieved by sensory tricks (geste antagoniste), such as talking, yawning, singing, humming, or touching the eyelid. This feature is helpful in diagnosis. Blepharospasm may be aggravated by reading, watching television, and exposure to wind or bright light.
Blepharospasm is usually idiopathic but may be associated with lesions (usually infarction) of the rostral brainstem, diencephalon, and striatum; it has been occasionally reported with thalamic lesions. The pathophysiological mechanisms underlying blepharospasm are not understood, but may reflect dopaminergic pathway disruption causing disinhibition of brainstem reflexes.
Local injections of botulinum toxin into orbicularis oculi are the treatment of choice, the majority of patients deriving benefit and requesting further injection.
Failure to respond to botulinum toxin may be due to concurrent eyelid apraxia or dopaminergic therapy with levodopa.
What is Blindsight?
Blindsight describes a rare phenomenon in which patients with bilateral occipital lobe damage affecting the primary visual cortex are nonetheless able to discriminate certain visual events within their ‘blind’ fields, but are not aware of their ability to do so.
What is Blind Spot?
The blind spot is defined anatomically as the point on the retina at which axons
from the retinal ganglion cells enter the optic nerve; since this area is devoid
of photoreceptors there is a physiological blind spot. This area may be mapped
clinically by confrontation with the examiner’s blind spot or mechanically. Minor
enlargement of the blind spot is difficult to identify clinically, formal perimetry is
needed in this situation.
Enlargement of the blind spot (peripapillary scotoma) is observed with
raised intracranial pressure causing papilloedema: this may be helpful in differentiating papilloedema from other causes of disc swelling such as optic neuritis,
in which a central scotoma is the most common field defect. Enlargement of the
blind spot may also be a feature of peripapillary retinal disorders including big blind spot syndrome.
What is Blinking?
Involuntary blinking rate is decreased in idiopathic Parkinson’s disease (and
may be improved by dopaminergic therapy) and in progressive supranuclear
palsy (Steele–Richardson–Olszewski syndrome) where the rate may be <5/min.
In contrast, blink rate is normal in multiple system atrophy and dopa-responsive
dystonia, and increased in schizophrenia and postencephalitic parkinsonism.
These disparate observations are not easily reconciled with the suggestion that
blinking might be a marker of central dopaminergic activity.
Loss of spontaneous blinking has been reported in Balint’s syndrome.
In patients with impaired consciousness, the presence of involuntary blinking
implies an intact pontine reticular formation; absence suggests structural or
metabolic dysfunction of the reticular formation. Blinking decreases in coma.
Functional disorders may be accompanied by an increase in blinking.
What is Blink Reflex?
The blink reflex consists of bilateral reflex contraction of the orbicularis oculi
muscles. This may be induced by:
• Mechanical stimulus:
Examples include percussion over the supraorbital ridge (glabellar tap
reflex, Myerson’s sign, nasopalpebral reflex): this quickly habituates
with repetitive stimulation in normal individuals; touching the cornea
(corneal reflex); stroking the eyelashes in unconscious patients with
closed eyes (‘eyelash reflex’).
• Visual stimulus:
Sudden visual stimulus approaching the eyes (menace reflex, threat
reflex, visuopalpebral reflex): the stimulus should be unexpected since
the reflex can be voluntarily suppressed; failure to respond to a stimulus moving into the temporal field of vision may indicate a hemianopic
field defect in patients unable to comply with standard confrontation visual field testing. Care should be taken to avoid generating air
currents with the hand movement as this may stimulate the corneal
reflex which may simulate the visuopalpebral reflex. It is probable
that this reflex requires cortical processing: it is lost in persistent vegetative states. Loss of this reflex may occur in Balint’s syndrome,
ascribed to inability to recognize the nearness of the threatening
• Acoustic stimulus:
Sudden loud sounds (acousticopalpebral reflex).
The final common (efferent) pathway for these responses is the facial nerve
nucleus and facial (VII) nerve, the afferent limbs being the trigeminal (V), optic
(II), and auditory (VIII) nerves, respectively.
Electrophysiological study of the blink reflex may demonstrate peripheral
or central lesions of the trigeminal (V) nerve or facial (VII) nerve (afferent
and efferent pathways, respectively). It has been reported that in the evaluation of sensory neuronopathy the finding of an abnormal blink reflex favours
a non-paraneoplastic aetiology, since the blink reflex is normal in paraneoplastic sensory neuronopathies.
What is ‘Body Part as Object’?
In this phenomenon, apraxic patients use a body part when asked to pantomime
certain actions, such as using the palm when asked to demonstrate the use of a
hair brush or comb, or fingers when asked to demonstrate use of scissors or a toothbrush.
What is Bon-Bon Sign?
Involuntary pushing of the tongue against the inside of the cheek, the ‘bonbon sign’, is said to be typical of the stereotypic orolingual movements of
tardive dyskinesia, along with chewing and smacking of the mouth and lips, and
rolling of the tongue in the mouth. These signs may help to distinguish tardive
dyskinesia from chorea, although periodic protrusion of the tongue (flycatcher,
trombone tongue) is common to both.
What is Bouche de Tapir?
Patients with facioscapulohumeral (FSH) muscular dystrophy have a peculiar
and characteristic facies, with puckering of the lips when attempting to whistle.
The pouting quality of the mouth, unlike that seen with other types of bilateral
(neurogenic) facial weakness, has been likened to the face of the tapir (Tapirus sp.).
What is Bovine Cough?
A bovine cough lacks the explosive character of a normal voluntary cough. It may result from injury to the distal part of the Vagus nerve, particularly the recurrent laryngeal branches which innervate all the muscles of the larynx (with the exception of cricothyroid) with resultant vocal cord paresis. Because of its longer intrathoracic course, the left recurrent laryngeal nerve is more often involved. A bovine cough may be heard in patients with tumours of the upper lobes of the lung (Pancoast tumour) due to recurrent laryngeal nerve palsy. Bovine cough may also result from any cause of bulbar weakness, such as motor neurone disease, Guillain–Barré syndrome, and bulbar myopathies.
What is Bradykinesia?
Bradykinesia is a slowness in the initiation and performance of voluntary movements in the absence of weakness and is one of the typical signs of parkinsonian
syndromes, in which situation it is often accompanied by difficulty in the initiation of movement (akinesia, hypokinesia) and reduced amplitude of movement
(hypometria) which may increase with rapid repetitive movements (fatigue). It
may be overcome by reflexive movements or in moments of intense emotion
Bradykinesia in parkinsonian syndromes reflects dopamine depletion in the
basal ganglia. It may be improved by levodopa and dopaminergic agonists, less so by anticholinergic agents.
Slowness of voluntary movement may also be seen with psychomotor retardation, frontal lobe lesions producing abulia, and in the condition of obsessive slowness.
What is Bradylalia?
Bradylalia is slowness of speech, typically seen in the frontal–subcortical types of
cognitive impairment, with or without extrapyramidal features, or in depression.
What is Bradyphrenia?
Bradyphrenia is a slowness of thought, typically seen in the frontal–subcortical
types of cognitive impairment, e.g. progressive supranuclear palsy, vascular
dementia, and Huntington’s disease. Such patients typically answer questions
correctly but with long response times.
What is Broca’s Aphasia?
Broca’s aphasia is the classic ‘expressive aphasia’, in distinction to the ‘receptive
aphasia’ of Wernicke; however, there are problems with this simple classification, since Broca’s aphasics may show comprehension problems with complex
material, particularly in relation to syntax. Considering each of the features suggested for the clinical classification of aphasias (see Aphasia), Broca’s aphasia is characterized by:
• Fluency: slow, laboured, effortful speech (non-fluent) with phonemic paraphasias, agrammatism, and aprosody; the patient knows what s/he wants
to say and usually recognizes the paraphasic errors (i.e. patients can ‘self-monitor’);
• Comprehension: comprehension for simple material is preserved, but there
may be problems with more complex syntax;
• Repetition: impaired;
• Naming: impaired (anomia, dysnomia); may be aided by phonemic or
contextual cueing (cf. Wernicke’s aphasia);
• Reading: alexia with laboured oral reading, especially of function words
and verb inflections. Silent reading may also be impaired (deep dyslexia) as
reflected by poor text comprehension;
• Writing: similarly affected.
Aphemia was the name originally given by Broca to the language disorder
subsequently named ‘Broca’s aphasia’. The term alalia was also once used. The
terms ‘small Broca’s aphasia’, ‘mini-Broca’s aphasia’, and ‘Broca’s area aphasia’ have been reserved for a more circumscribed clinical and neuroanatomical
deficit than Broca’s aphasia, wherein the damage is restricted to Broca’s area or
its subjacent white matter. There is a mild and transient aphasia or anomia which
may share some of the characteristics of aphemia/phonetic disintegration (i.e. a
motor disorder of speech production with preserved comprehension of spoken
and written language).
The syndrome of Broca’s aphasia may emerge during recovery from a
global aphasia. Broca’s aphasia is sometimes associated with a right hemiparesis, especially affecting the arm and face; there may also be bucco-lingual-facial
dyspraxia. Depression may be a concurrent feature.
Classically Broca’s aphasia is associated with a vascular lesion of the third
frontal gyrus in the inferior frontal lobe (Broca’s area), but in practice such a
circumscribed lesion is seldom seen. More commonly there is infarction in the
perisylvian region affecting the insula and operculum (Brodmann areas 44 and
45), which may include underlying white matter and the basal ganglia (territory
of the superior branch of the middle cerebral artery).
What is Aphemia?
Aphemia is primarily a disorder of articulation, whereas aphasia is a disorder of language.
What is the meaning of paraphasias?
Paraphasias are a group of language disorders, types of aphasia in which people lose the ability to speak correctly, substitutes one word for another, and changing words and sentences in an inappropriate way.
What is aprosody?
Aprosodia is a neurological condition characterized by the inability of a person to properly convey or interpret emotional prosody. Prosody in language refers to the ranges of rhythm, pitch, stress, intonation, etc. These neurological deficits can be the result of damage of some form to the non-dominant hemisphere areas of language production. The prevalence of aprosodias in individuals is currently unknown, as testing for aprosodia secondary to other brain injury is only a recent occurrence.
What is the meaning of paraphasias?
Paraphasias are a group of language disorders, types of aphasia in which people lose the ability to speak correctly, substitutes one word for another, and changing words and sentences in an inappropriate way.
What is semantic paraphasia?
Verbal Paraphasia Also known as semantic paraphasia, is when an entire word is substituted for the intended word. In a semantic paraphasia, it is a word with a similar meaning, such as saying “son” instead of “daughter” or “orange” instead of “apple.
What is literal paraphasia?
The habitual substitution of inappropriate or meaningless words or jargonisms. Paraphasias.
Literal paraphasia—Substitution of an inappropriate phoneme (syllable).
Verbal paraphasia—Substitution of a complete word; fluent paraphasic speech is termed jargon aphasia.
What are the three types of paraphasia?
The Three Types of Paraphasia are-
Phonemic Paraphasia. Also known as literal paraphasia, it is when a sound substitution or rearrangement is made, but the stated word still resembles the intended word.
Verbal Paraphasia. Also known as semantic paraphasia, is when an entire word is substituted for the intended word.
Neologistic Paraphasia. Also referred to as neologisms, is the use of non-real words in place of the intended word. Neologism literally means “new word.”
What is Brown-Séquard Syndrome?
The Brown-Séquard syndrome is the consequence of anatomical or, more usually, functional hemisection of the spinal cord (spinal hemisection syndrome),
producing the following pattern of clinical findings:
Ipsilateral spastic weakness, due to corticospinal tract involvement;
Segmental lower motor neurone signs at the level of the lesion, due
to root and/or anterior horn cell involvement.
A dissociated sensory loss, i.e.:
Ipsilateral loss of proprioception, due to dorsal column involvement;
Contralateral loss of pain and temperature sensation, due to crossed
spinothalamic tract involvement.
Spinal cord lesions producing this syndrome may be either extramedullary
(e.g. prolapsed cervical intervertebral disc, extrinsic spinal cord tumour) or
intramedullary (e.g. multiple sclerosis, intrinsic spinal cord tumour, myelitis,
radiation-induced myelopathy); the former group is said to be the more common cause.
What is Brudzinski’s (Neck) Sign?
Brudzinski described a number of signs, but the one most often used in clinical practice is the neck sign, which is sometimes evident in cases of meningeal irritation, for example, due to meningitis. Passive flexion of the neck to bring the head onto the chest is accompanied by flexion of the thighs and legs. As with nuchal rigidity and Kernig’s sign, Brudzinski’s sign may be absent in elderly or immunosuppressed patients with meningeal irritation.
What is Brueghel’s Syndrome?
Brueghel’s syndrome [‘Breughel’s’ syndrome] is the name given to a dystonia of the motor trigeminal nerve causing gaping or involuntary opening of the mouth, so named after Brueghel’s painting De Gaper of 1558, thought to illustrate a typical case. Additional features may include paroxysmal hyperpnoea and up beating nystagmus. Brueghel’s syndrome should be distinguished from other syndromes of cranial dystonia featuring blepharospasm and oromandibular dystonia, better termed Meige’s syndrome.
What is Bruit?
Bruits arise from turbulent blood flow causing arterial wall vibrations which
are audible at the body surface with the unassisted ear or with a stethoscope
(diaphragm rather than bell, better for detecting higher frequency sounds). They
are associated with stenotic vessels or with fistulae where there is arteriovenous
shunting of blood. Dependent on the clinical indication, various sites may be auscultated: eye for orbital bruit in carotico-cavernous fistula; head for bruit of AV fistula; but probably the most frequently auscultated region is the carotid bifurcation, high up under the angle of the jaw, in individuals thought to have had a transient ischaemic attack or ischaemic stroke. Examination for carotid bruits in asymptomatic individuals is probably best avoided, other than in the clinical trial setting, since the optimal management of asymptomatic carotid artery stenosis has yet to be fully defined.
What is Brushfield Spots?
Brushfield spots are small grey-white specks of depigmentation that can be seen in the irides of some (90%) patients with Down’s syndrome; they may also occur in normal individuals.
What is Bruxism?
Bruxism is forcible grinding or gnashing of the teeth. This is common in
children and is said to occur in 5–20% of the population during non-REM
sleep (a parasomnia). Masseter hypertrophy may become apparent in persistent grinders. Bruxism may also occur in encephalopathic disorders (e.g. hepatic
encephalopathy) and occasionally in disorders of the basal ganglia (multiple
system atrophy, basal ganglia infarcts). Dysfunction of efferent and/or afferent
thalamic and striatopallidal tracts has been suggested as the neural substrate. If
necessary, a rubber gum shield or bite may be worn in the mouth to protect the teeth. Botulinum toxin injections have also been tried.
What is Buccolingual Syndrome?
This is a form of tardive dyskinesia that involves involuntary movements of the
facial muscles and protrusion of the tongue.
What is Bulbar Palsy?
Bulbar palsy is weakness of bulbar musculature of lower motor neurone origin. This may be differentiated clinically from bulbar weakness of upper motor
neurone origin (pseudobulbar palsy).
Clinical features of bulbar palsy include
• Dysarthria of flaccid/nasal type;
• Dysphagia, often with nasal regurgitation;
• Weak (‘bovine’) cough; risk of aspiration;
• +/− wasted, fasciculating tongue;
• +/− absent jaw jerk;
• +/− absent gag reflex.
Bulbar palsy is usually neurogenic. Recognized causes include
• Brainstem disorders affecting cranial nerve motor nuclei (intrinsic):
Motor neurone disease (which may also cause a pseudobulbar palsy);
• Cranial nerve lesions outside the brainstem (there may be associated sensory
Infiltration by carcinoma, granuloma.
• Neuromuscular junction transmission defect:
A myogenic bulbar palsy may be seen in oculopharyngeal muscular dystrophy, inclusion body myositis, and polymyositis.
What are the symptoms of pseudobulbar affect?
Symptoms. The primary sign of pseudobulbar affect (PBA) is frequent, involuntary and uncontrollable outbursts of crying or laughing that are exaggerated or not connected to your emotional state. Laughter often turns to tears. Your mood will appear normal between episodes, which can occur at any time.
How common is pseudobulbar affect?
Pseudobulbar affect (PBA) is a neurologic effect that occurs in 10 percent of people with MS, although some research suggests a much larger percentage. It is characterized by sudden, uncontrollable expressions of laughter or crying without an apparent trigger.
What is the treatment for pseudobulbar affect?
The goal of treatment for pseudobulbar affect (PBA) is to reduce the severity and frequency of emotional outbursts. Medication options include: Antidepressants. Antidepressants, such as tricyclic antidepressants (TCAs) and selective serotonin reuptake inhibitors (SSRIs), can help reduce the frequency and severity of your PBA episodes.
What is pathological laughter?
Pathological laughter is unintentional and repeated laughter that isn’t connected to humour, mirth or an expression of happiness. It’s usually a sign of a disease or medical condition affecting the nervous system.
What is Pseudobulbar palsy?
Paralysis of the lips and tongue, simulating progressive bulbar paralysis, but due to supranuclear lesions with bilateral involvement of the upper motor neurons; characterized by speech and swallowing difficulties, emotional instability, and spasmodic, mirthless laughter.
Pseudobulbar palsy occurs when nervous system conditions cause degeneration of certain motor nuclei that exit the brain stem.
Patients with pseudobulbar palsy have progressive difficulty with activities that require the use of muscles in the head and neck that are controlled by particular cranial nerves. The first noticeable symptom is often slurred speech. Over time, speech, chewing, and swallowing become progressively more difficult, eventually becoming impossible. Sudden emotional outbursts, in which the patient spontaneously and without cause begins to laugh or cry, are also a characteristic of pseudobulbar palsy.
The prognosis for pseudobulbar palsy is quite poor. When the symptoms progress to disability, there is a high risk of choking and aspiration (breathing food or liquids into the lungs), which can lead to severe pneumonia and death. The conditions with which pseudobulbar palsy is associated also have a high risk of progression to death.
This condition can be caused by a number of things. Strokes, infections, and tumors can all lead to lesions among the high motor neurons. Progressive neurological diseases like Parkinson’s disease and amyotrophic lateral sclerosis have also been linked with pseudobulbar palsy. Medical imaging studies of the brain can reveal changes and provide information about the extent of the damage.
Signs and symptoms of pseudobulbar palsy include:
Dysphagia (difficulty in swallowing).
Small, stiff and spastic tongue.
Slow and indistinct speech.
Brisk jaw jerk.
Gag reflex may be normal, exaggerated or absent.
Examination may reveal upper motor neuron lesion of the limbs.
Diagnosis of pseudobulbar palsy is based on observation of the symptoms of the condition. Tests examining jaw jerk and gag reflex can also be performed. It has been suggested that the majority of patients with pathological laughter and crying have pseudobulbar palsy due to bilateral corticobulbar lesions and often a bipyramidal involvement of arms and legs. To further confirm the condition, MRI can be performed to define the areas of brain abnormality.
What is Bovine cough?
A popular term for a non-explosive cough by a patient who can’t close his or her glottis, a finding typical of vagal nerve damage and associated with dysphonia.
What is Bulbocavernosus Reflex?
A test of the integrity of the S2, S3, and S4 spinal roots, looking for contraction of
the anal sphincter (may be felt with a gloved finger in the rectum) when squeezing
the glans penis or clitoris. The reflex may be abolished in lesions of the cauda equina.
What is Cacogeusia?
Sensation of a disagreeable taste, often associated with parosmia.
What is Calf Head Sign?
A consistent pattern of muscle enlargement or wasting, described as ‘calf heads
on a trophy’, has been observed in Miyoshi-type dysferlinopathy when the
arms are raised with shoulder abducted and elbows flexed to 90◦. Diamond on
quadriceps sign may also be seen in dysferlinopathies.
What is Calf Hypertrophy?
Calf enlargement has many causes; it may reflect true hypertrophy (enlargement
of muscle fibres) or, more commonly, pseudohypertrophy, due to infiltration with
tissue elements other than muscle.
Hypertrophy may be due to neuromuscular disorders producing
• chronic partial denervation, e.g.: radiculopathy; peripheral neuropathy; spinal muscular atrophy;
following paralytic poliomyelitis.
• continuous muscle activity, e.g.: myotonia congenital; Isaac’s syndrome (neuromyotonia);
Calf (and other muscle) hypertrophy is also a feature of limb girdle muscular
dystrophy type 2I.
What is calf pseudo hypertrophy?
Calf pseudohypertrophy may be due to:
• Dystrophinopathies (Duchenne muscular dystrophy, Becker dystrophy), due
to excess connective tissue;
• Infection/inflammation: myositis;
• Infiltration: amyloidosis, tumour, cysticercosis.
What is Caloric Testing?
Caloric tests examine the vestibulo-ocular reflexes (VOR). They are mainly used in two circumstances: to identify vestibular pathology in the assessment of dizziness/vertigo when clinical tests of VOR are unhelpful and to assess brainstem integrity in coma.
Each labyrinth may be separately assessed by irrigating each outer ear. Head
flexion to 30◦ above the horizontal allows maximum stimulation of the horizontal semicircular canals, whereas 60◦ below horizontal maximally stimulates the
lateral semicircular canals. Water 7◦C above and below body temperature (i.e.
30◦C and 44◦C) is used, applied for 30–40 s. Induced nystagmus is then timed
both with and without visual fixation (in the dark, Frenzel glasses). This method
is cheap but has poor patient acceptability.
Normally, the eyes show conjugate deviation towards the ear irrigated with
cold water, with corrective nystagmus in the opposite direction; with warm water
the opposite pattern is seen. In coma the deviation may be present but without corrective saccades, even at a time when the oculocephalic responses elicited by the doll’s head manoeuvre are lost. As coma deepens even the caloric reflexes are lost as brainstem involvement progresses.
What are Frenzel goggles?
Frenzel goggles are a diagnostic tool used in ophthalmology, otolaryngology and audio vestibular medicine for the medical evaluation of involuntary eye movement (nystagmus). They are named after Frenzel, a German physician.
What is Camptocormia?
Camptocormia, or ‘bent spine syndrome’, was first described as a psychiatric
phenomenon in men facing armed conflict (a ‘war neurosis’). It has subsequently
been realized that reducible lumbar kyphosis may also result from neurological
disorders, including muscle disease (paravertebral myopathy, nemaline myopathy), Parkinson’s disease, dystonia, motor neurone disease, and, possibly, as
a paraneoplastic phenomenon. Cases with associated lenticular (putaminal) lesions have also been described.
What is Camptodactyly?
Camptodactyly, literally ‘bent finger’, is a flexion deformity at the proximal interphalangeal joint, especially affecting the little fingers; this may be unilateral or bilateral. A distinction is sometimes drawn between camptodactyly and streblodactyly: in the latter, several fingers are affected by flexion contractures (streblo = twisted, crooked), but it is not clear whether the two conditions overlap or are separate. The term streblomicrodactyly has sometimes been used to designate isolated crooked little fingers. Camptodactyly is not accompanied by any sensory or motor signs. The condition may be familial and is more common in women. Camptodactyly may occur as part of a developmental disorder with other dysmorphic features or in isolation.
It is important to differentiate camptodactyly, a non-neurogenic cause of
clawing, from neurological diagnoses such as:
• Ulnar neuropathy;
• C8/T1 radiculopathy;
• Cervical rib;
Awareness of the condition is important to avoid unnecessary neurological investigation.
What is Capgras Syndrome?
This is one of the classical delusional syndromes of psychiatry, in which patients
recognize a close family relative, or other loved object, but believe them to be
have been replaced by an exact alien or ‘double’ (illusion of doubles). Initially
described in patients with psychiatric disorders, it may also occur in traumatic,
metabolic, and neurodegenerative disorders (e.g. Alzheimer’s disease, dementia
with Lewy bodies). Neurologists have encompassed this phenomenon under the
term reduplicative paramnesia. Some believe this syndrome to be the ‘mirror
image’ of prosopagnosia, in which faces are not recognized but emotional significance is. Capgras syndrome may be envisaged as a Geschwindian disconnection
syndrome, in which the visual recognition system is disconnected from the limbic system, hence faces can be recognized but no emotional significance ascribed to them.
What is a disconnection syndrome?
The term “disconnection syndrome” is applied to the effects of lesions of association pathways, either those which lie within a single cerebral hemisphere or those which join the two halves of the brain (Geschwind,1965). Often the disconnection syndromes are talked about more generally as Collosal Syndromes.
When did disconnection syndrome emerge?
The concept of disconnection syndrome emerged in the late nineteenth century when scientists became aware that certain neurological disorders result from communication problems among brain areas.
What is a recessive disconnection?
Syndromes of hemisphere disconnection can also occur when there is a partial disconnection such as in naturally occurring diseases/condition such as stroke (thrombosis etc.) Callosal lesions are often accompanied by damage to neighbouring structures. Therefore “neighbourhood signs” may overshadow signs of callosal disconnection.
What is Geschwind syndrome?
Geschwind syndrome Geschwind syndrome, also known as Gastaut-Geschwind, is a group of behavioural phenomena evident in some people with temporal lobe epilepsy. It is named for one of the first individuals to categorize the symptoms, Norman Geschwind, who published prolifically on the topic from 1973 to 1984.
What is Carphologia?
Carphologia, or floccillation, is an aimless plucking at clothing, as if picking
off pieces of thread. This may sometimes be seen in psychiatric illness, delirium,
Alzheimer’s disease, or vascular dementia particularly affecting the frontal lobe.
Some have characterized carphologia as a form of akathisia.
What is Catalepsy?
This term has been used to describe increased muscle tone, leading to the assumption of fixed postures which may be held for long periods of time without
apparent fatigue; it may be possible for the examiner to position an extremity
into any posture, in which it then remains for some time. Clearly, this term is
cognate with or overlaps with waxy flexibility which is a feature of catatonic syndromes. Catalepsy may be feigned (see Dr Arthur Conan Doyle’s story of The Resident Patient in The Memoirs of Sherlock Holmes, first published in 1894).
Catalepsy should not be confused with the term cataplexy, a syndrome in which muscle tone is transiently lost.
What is Cataplexy?
Cataplexy is a sudden loss of limb tone which may lead to falls (drop attacks)
without loss of consciousness, usually lasting less than 1 min. Attacks may be precipitated by strong emotion (laughter, anger, embarrassment, surprise). Sagging
of the jaw and face may occur, as may twitching around the face or eyelids.
During an attack there is electrical silence in antigravity muscles, which are
consequently hypotonic, and transient areflexia. Rarely status cataplecticus may
develop, particularly after withdrawal of tricyclic antidepressant medication.
Cataplexy may occur as part of the narcoleptic syndrome of excessive and
inappropriate daytime somnolence, hypnagogic hallucinations, and sleep paralysis (Gélineau’s original description of narcolepsy in 1877 included an account of
‘astasia’ which corresponds to cataplexy). Symptomatic cataplexy occurs in certain neurological diseases including brainstem lesions, von Economo’s disease (postencephalitic parkinsonism), Niemann–Pick disease type C, and Norrie’s disease.
Therapeutic options for cataplexy include tricyclic antidepressants such
as protriptyline, imipramine, and clomipramine; serotonin-reuptake inhibitors
such as fluoxetine; and noradrenaline and serotonin-reuptake inhibitors such as
What is von Economo disease?
von Economo disease – the basis for postencephalitic parkinsonism, suspected to be of viral origin. Synonym (s): Economo disease; encephalitis lethargica; polio encephalitis infectiva; sleeping sickness
What is Catathrenia?
Catathrenia is expiratory groaning during sleep, especially its later stages.
Although sufferers are unaware of the condition, it does alarm relatives and bed
partners. There are no associated neurological abnormalities and no identified
neurological or otorhinolaryngological cause. Catathrenia is categorized with
the parasomnias in the International Classification of Sleep Disorders (ICSD2, 2005).
What is Catatonia?
Catatonia is a clinical syndrome, first described by Kahlbaum (1874), characterized by a state of unresponsiveness but with maintained, immobile, body posture (sitting, standing; cf. stupor), mutism, and refusal to eat or drink, with or without staring, grimacing, limb rigidity, maintained abnormal postures (waxy flexibility or flexibilitas cerea), negativism, echophenomena (imitation behaviour), stereotypy, and urinary incontinence or retention. After recovery patients are often able to recall events which occurred during the catatonic state (cf. stupor).
‘Lethal catatonia’, in which accompanying fever and collapse lead to death, was
described in the 1930s and seems to resemble neuroleptic malignant syndrome;
the name ‘malignant catatonia’ has been proposed for this syndrome. Catatonia
may be confused clinically with abulia.
Kraepelin classified catatonia as a subtype of schizophrenia but most catatonic patients in fact suffer a mood or affective disorder. Furthermore, although
initially thought to be exclusively a feature of psychiatric disease, catatonia is
now recognized as a feature of structural or metabolic brain disease (the original
account contains descriptions suggestive of extrapyramidal disease): disorders (Rosenbach’s sign).
However, absence of all superficial abdominal reflexes may be of localizing
value for corticospinal pathway damage (upper motor neurone lesions) above T6.
Lesions at or below T10 lead to selective loss of the lower reflexes with the upper
and middle reflexes intact, in which case Beevor’s sign may also be present. All
abdominal reflexes are preserved with lesions below T12.
Abdominal reflexes are said to be lost early in multiple sclerosis, but late in
motor neurone disease, an observation of possible clinical use, particularly when
differentiating the progressive lateral sclerosis variant of motor neurone disease
from multiple sclerosis. However, no prospective study of abdominal reflexes in
multiple sclerosis has been reported.
What is cerea flexibilitas?
It is the capacity (as in catalepsy) to maintain the limbs or other bodily parts in whatever position they have been placed.
What is Abducens (VI) Nerve Palsy?
Abducens (VI) nerve palsy causes a selective weakness of the lateral rectus muscle resulting in impaired abduction of the eye, manifest clinically as diplopia on
lateral gaze, or on shifting gaze from a near to a distant object.
What causes acquired nerve palsy?
Acquired. Acquired abducens nerve palsies in childhood can be due to neoplasm, trauma, inflammation, and idiopathic aetiologies. Nontraumatic acquired sixth nerve palsies may be due to benign recurrent sixth nerve palsy, elevated or low intracranial pressure, or pontine gliomas.
What is the pathophysiology of sixth nerve palsy?
The pathophysiological mechanism of sixth nerve palsy with increased intracranial pressure has traditionally been said to be stretching of the nerve in its long intracranial course, or compression against the petrous ligament or the ridge of the petrous temporal bone.
What is pseudoabducens palsy?
Caplan, in 1980 defined the phrase, pseudoabducens palsy as “a failure of ocular abduction which is not due to dysfunction of the sixth nerve”, and postulated that increased convergence activity was the cause (2). The neurologic pathways for convergence are not discrete nerve tracts.
What is Beevor’s sign Abductor Sign?
The abductor sign is tested by asking the patient to abduct each leg whilst the
examiner opposes movement with hands placed on the lateral surfaces of the
patient’s legs: the leg contralateral to the abducted leg shows opposite actions
dependent upon whether paresis is organic or non-organic. Abduction of a
paretic leg is associated with the sound leg remaining fixed in organic paresis,
but in non-organic paresis there is hyperadduction. Hence the abductor sign is
suggested to be useful to detect non-organic paresis.
What is Absence?
An absence, or absence attack, is a brief interruption of awareness of epileptic
origin. This may be a barely noticeable suspension of speech or attentiveness,
without postictal confusion or awareness that an attack has occurred, as in
idiopathic generalized epilepsy of absence type (absence epilepsy; petit mal), a
disorder exclusive to childhood and associated with 3 Hz spike and slow wave
Absence epilepsy may be confused with a more obvious distancing, ‘trancelike’ state, or ‘glazing over’, possibly with associated automatisms, such as lip smacking, due to a complex partial seizure of temporal lobe origin (‘atypical absence’).
What is the treatment for Absence?
Ethosuximide and/or sodium valproate are the treatments of choice for idiopathic generalized absence epilepsy, whereas carbamazepine, sodium valproate, or lamotrigine are first-line agents for localization-related complex partial seizures.
What is Abulia?
Abulia (aboulia) is a ‘syndrome of hypofunction’, characterized by a lack of
initiative, spontaneity and drive (aspontaneity), apathy, slowness of thought
(bradyphrenia), and blunting of emotional responses and response to external
stimuli. It may be confused with the psychomotor retardation of depression and
is sometimes labelled as ‘pseudo depression’. More plausibly, abulia has been
thought of as a minor or partial form of akinetic mutism. A distinction may
be drawn between abulia major (= akinetic mutism) and abulia minor, a lesser
degree of abulia associated particularly with bilateral caudate stroke and thalamic infarcts in the territory of the polar artery and infratentorial stroke. There
may also be some clinical overlap with catatonia.
Abulia may result from frontal lobe damage, most particularly that involving
the frontal convexity, and has also been reported with focal lesions of the caudate
nucleus, thalamus, and midbrain. As with akinetic mutism, it is likely that lesions
anywhere in the ‘centromedial core’ of the brain, from frontal lobes to brainstem,
may produce this picture.
What are the causes of Abulia?
Abulia is most often caused by an injury to the brain. Pathologically, abulia may be observed in:
• Infarcts in anterior cerebral artery territory and ruptured anterior communicating artery aneurysms, causing basal forebrain damage;
• Closed head injury;
• Parkinson’s disease; sometimes as a forerunner of a frontal lobe dementia;
• Other causes of frontal lobe disease: tumour, abscess;
• Metabolic, electrolyte disorders: hypoxia, hypoglycaemia, hepatic
Treatment is of the underlying cause where possible. There is anecdotal
evidence that the dopamine agonist bromocriptine may help.
What is Pseudodementia?
Pseudodementia (otherwise known as “depression-related cognitive dysfunction”) is a condition where mental cognition can be temporarily decreased. The term pseudodementia is applied to the range of functional psychiatric conditions such as depression, schizophrenia and hysteria that may mimic organic dementia, but are essentially reversible on treatment. Pseudodementia typically involves three cognitive components: memory issues, deficits in executive functioning, and deficits in speech and language.
What are the causes of Pseudo Dementia?
Active thyroid gland slows down the whole body.
Pseudo dementia causes as the age get over the 65.
Pneumonia in an old person and the brain also cause the pseudo dementia.
The depressive illness causes to the pseudo dementia.
What is Acalculia?
Acalculia, or dyscalculia, is difficulty or inability in performing simple mental
arithmetic. This depends on two processes, number processing and calculation;
a deficit confined to the latter process is termed anarithmetia. Acalculia may be
Preservation of calculation skills in the face of total language dissolution (production and comprehension) has been reported with focal left temporal lobe atrophy probably due to Pick’s disease.
Agraphia is the loss of the ability to write.
Aphasia usually refers to the loss of the ability to speak.
Alexia, on the other hand, is the loss of the ability to recognize words you once could.
What are the causes of Acalculia?
Acalculia is usually caused by damage to areas of the brain directly related to mathematical reason, particularly the left parietal lobe of the angular gyrus. Blows to the head, brain injuries, and tumors can contribute to the development of acalculia. Acalculia is a symptom of a neurological condition called Gerstmann’s syndrome.
What is convergence reflex?
The convergence reflex in the eyes are responsible to keep your eyes aligned and focused on an object. Try moving a pen towards and away from your face; your eyes will follow the object naturally and keep it in focus.
The accommodation reflex (or accommodation-convergence reflex) is a reflex action of the eye, in response to focusing on a near object, then looking at a distant object (and vice versa), comprising coordinated changes in vergence, lens shape (accommodation) and pupil size.
What is the normal pupil reaction?
In bright light, the pupil constricts to reduce the amount of light entering the eye. In dark or dim light, the pupil dilates to allow more light into the eye to improve vision. Normal pupil size tends to range between 2.0 and 5.0 millimetres, depending on the lighting.
What is the purpose of the pupillary light reflex?
Pupillary light reflex. The pupillary light reflex (PLR) or photo pupillary reflex is a reflex that controls the diameter of the pupil, in response to the intensity (luminance) of light that falls on the retinal ganglion cells of the retina in the back of the eye, thereby assisting in adaptation to various levels of lightness/darkness.
What is the pupillary response?
Pupillary response. Pupillary response is a physiological response that varies the size of the pupil, via the optic and oculomotor cranial nerve. A constriction response (miosis), is the narrowing of the pupil, which may be caused by scleral buckles or drugs such as opiates/opioids or anti hypertension medications.
What is an abnormal red reflex?
The reflex relies on the transparency of optical media (tear film, cornea, aqueous humor, crystalline lens, vitreous humor) and reflects off the fundus back through media into the aperture of the ophthalmoscope. The red reflex is considered abnormal if there is any asymmetry between the eyes, dark spots, or white reflex (Leukocoria).
Is pupil dilation indicative of brain injury?
Pupil dilation is itself not indicative of brain injury. Pupil dilation is a normal response to darkness, and occurs as part of the fight or flight response. The size of the pupil is under the control of the sympathetic nervous system.
Is pupil reaction brisk normal?
Note whether there is a direct pupillary response (the pupil constricts when the light is shone on to it) and a consensual response (the other pupil also constricts). A normal result is a brisk, simultaneous, equal response of both pupils in response to light shone in to one or the other eye.
What causes sluggish pupil reaction?
Causes of delayed pupil reactions, or sluggish pupils, includes: Cranial nerve disorder. Adie syndrome. Encephalitis. Familial amyloid polyneuropathy. Shingles (Herpes zoster) Iritis.
What is ocular accommodation?
Ocular accommodation. Light from a single point of a distant object and light from a single point of a near object being brought to a focus by changing the curvature of the lens. Accommodation is the process by which the eye increases optical power to maintain a clear image (focus) on an object as it draws near the eye.
What is accommodation in vision?
Accommodation (eye) Accommodation is the process by which the vertebrate eye changes optical power to maintain a clear image or focus on an object as its distance varies. In this, distances vary for individuals from the far point —the maximum distance from the eye for which a clear image of an object can be seen.
What does accommodation of the eye mean?
Accommodation is the process whereby the eye is able to change the point of focus from a distant object to a near object. It’s an optical change in the eye and happens when the muscles inside the eye contract, allowing the optical power of the crystalline lens to be increased so that near objects can be brought into focus on the retina.
What is Hemispatial neglect?
Hemispatial neglect is a neuropsychological condition in which, after damage to one hemisphere of the brain is sustained, a deficit in attention to and awareness of one side of the field of vision is observed.
What is the abbreviation for Gerstmann syndrome?
Gerstmann’s syndrome abbreviated as GS is also referred as the developmental Gerstmann syndrome or the Gerstmann tetrad, which is a rare neurological problem that affects the dominant parietal lobe of the brain, specifically located at the angular gyrus and supramarginal gyrus near the junction point of the parietal lobe and the temporal lobe. Gerstmann syndrome is characterized by four primary symptoms:
Dysgraphia /agraphia: deficiency in the ability to write
Dyscalculia /acalculia: difficulty in learning or comprehending mathematics
Finger agnosia: inability to distinguish the fingers on the hand
What is Gerstmann Sträussler Scheinker syndrome?
Gerstmann–Sträussler–Scheinker syndrome. Gerstmann–Sträussler–Scheinker syndrome (GSS) is an extremely rare, usually familial, fatal neurodegenerative disease that affects patients from 20 to 60 years in age. It is exclusively heritable, and is found in only a few families all over the world (according to NINDS).
Is there a cure for Gerstmann syndrome?
There is no cure for Gerstmann syndrome. Treatment is symptomatic and supportive. Occupational and speech therapies may help diminish the dysgraphia and apraxia. In addition, calculators and word processors may help school children cope with the symptoms of the disorder.
What is Achilles Reflex?
Plantar flexion at the ankle following phasic stretch of the Achilles tendon constitutes the Achilles reflex or ankle jerk, mediated through sacral segments S1 and S2 and the sciatic and posterior tibial nerves. This reflex may be elicited in several ways: by a blow with a tendon hammer directly upon the Achilles tendon (patient supine, prone with knee flexed, or kneeling) or with a plantar strike. The latter, though convenient and quick, is probably the least sensitive method, since absence of an observed muscle contraction does not mean that the reflex is absent; the latter methods are more sensitive.
When is Achilles Reflex lost?
The Achilles reflex is typically lost in polyneuropathies and S1 radiculopathy. Loss of the Achilles reflex is increasingly prevalent with normal healthy ageing, beyond the age of 60 years, although more than 65% of patients retain the ankle jerks.
What is Achromatopsia?
Achromatopsia, or dyschromatopsia, is an inability or impaired ability to perceive colours. This may be ophthalmological or neurological in origin, congenital or acquired; only in the latter case does the patient complain of impaired colour vision.
How is Achromatopsia is tested?
Achromatopsia is most conveniently tested for clinically using pseudoisochromatic figures (e.g. Ishihara plates), although these were specifically designed for detecting congenital colour blindness and test the red-green channel more than blue-yellow. Sorting colours according to hue, for example with the Farnsworth–Munsell 100 Hue test, is more quantitative, but more time-consuming. Difficulty performing these tests does not always reflect achromatopsia (Pseudoachromatopsia).
What are the causes of Achromatopsia?
Genetic factor that caused achromatopsia is the mutation of the cone cell cyclic nucleotide-gated ion channels as well as the cone cell transducin. Acquired form is due to damage to the thalamus of the mid brain or the cerebral cortex of the brain.
What is Acousticopalpebral Reflex?
A form of the wink reflex in which there is a contraction, sometimes very slight, of the orbicularis palpebrarum muscle when a sudden noise is made close to the ear; it is absent in labyrinthine disease with total deafness.
What is the function of the blink reflex?
The blink reflex is a reflex which is designed to naturally protect the eyes. Most animals with eyes have some form of this reflex, and the reflex is present from the time that an animal first opens its eyes.
What type of reflex causes blinking?
Excessive blinking is caused by over-stimulation of the blinking reflex. This is most commonly due to a foreign body in the eye. This can be as simple as an ingrown eyelash rubbing against the front of the eyeball.
What does Adie syndrome mean?
Adie syndrome, or Holmes-Adie syndrome, is a rare neurological disorder affecting the pupil of the eye. In most patients the pupil is larger than normal (dilated) and slow to react in response to direct light. Absent or poor tendon reflexes are also associated with this disorder.
What is prosopagnosia psychology definition?
Prosopagnosia, also called face blindness, is a disorder in which people are unable to recognize faces.
Where in the brain is prosopagnosia?
The brain areas thought to play a critical role in apperceptive prosopagnosia are right occipital temporal regions. People with this disorder cannot make any sense of faces and are unable to make same-different judgments when they are presented with pictures of different faces.
What is Adson’s Test
Adson’s test may be helpful in the diagnosis of vascular thoracic outlet syndrome, along with Roos test. The arm is extended at the elbow, abducted, and then rotated posteriorly; following deep inspiration, the patient’s head is turned from one side to the other. Loss of the radial pulse may occur in normal but a bruit over the brachial artery is thought to suggest the presence of entrapment. A Doppler Adson’s test over the subclavian artery may predict successful outcome from thoracic outlet decompression surgery.
What is Adiadochokinesia?
Adiadochokinesia is inability is the to perform fine, rapidly repeated, coordinated movements.
What is the pain pattern of thoracic outlet syndrome?
Thoracic outlet syndrome is a group of disorders that occur when blood vessels or nerves in the space between your collarbone and your first rib (thoracic outlet) are compressed. This can cause pain in your shoulders and neck and numbness in your fingers.
What is Roos Test?
Roos Test is a common test included in the examination of the shoulder, specifically for the presence of Thoracic Outlet Syndrome (TOS). The test is very easy to carry out. It is also known as the EAST (Elevated Arm Stress Test) Test or the Hands Up Test. In this test, the patient raises their arms to 90 degrees of abduction in the frontal plane of the body with the arms fully externally rotated and the elbows at 90 degrees of flexion. The sitting roos test is when this test is done in sitting. However, the test can also be done in standing.
The patient opens and closes their hands for up to 3 minutes.
The test is considered positive if the patient is unable to hold the arms up for the 3 minutes, or if the patient experiences pain, heaviness or paraesthesia in the shoulder, arm or hands.
What drugs cause false positive for ethanol?
These 20 Medications Can Cause a False Positive on Drug Tests
Fluoxetine and trazodone.
What are Adventitious Movements?
Neurologists are frequently consulted to evaluate various adventitious movements, including tremors, chorea, dyskinesias, and ballismus.
What is ballismus.?
A type of involuntary movement affecting the proximal limb musculature, manifested as jerking, flinging movements of the extremity; caused by a lesion of or near the contralateral subthalamic nucleus.
What is stereotyped behaviour?
Stereotyped behaviour or stereotyped movement or stereotypic behaviour or stereotypy is a repetitive or ritualistic movement, posture, or utterance, found for example in patients with mental retardation, autism spectrum disorders, tardive dyskinesia and stereotypic movement disorder.
What is a stereotypic behaviour?
A stereotypy is a repetitive or ritualistic movement, posture, or utterance. Stereotypies may be simple movements such as body rocking, or complex, such as self-caressing, crossing and uncrossing of legs, and marching in place. They are found in people with intellectual disabilities, autism spectrum disorders, tardive dyskinesia and stereotypic movement disorder, but may also be encountered in neurology. Stereotypical or stereotyped behaviour has several meanings, leading to ambiguity in the scientific literature. A stereotypy is a term for a group of phenotypic behaviours that are repetitive, morphologically identical and which possess no obvious goal or function
What is vocal stereotypy?
Definition of Vocal Stereotypy. Vocal stereotypy is the use of non-productive sounds or words. Many children with autism use vocal stereotypes, and so do those with other developmental disorders or medical conditions.
What are the health problems that co-occur with autism?
The conditions that overlap with autism generally fall into one of four groups: classic medical problems, such as epilepsy, gastrointestinal issues or sleep disorders; developmental diagnoses, such as intellectual disability or language delay; mental-health conditions, such as attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder or depression; and genetic conditions, including fragile X syndrome and tuberous sclerosis complex.
What is agnosia?
Agnosia is inability to interpret sensations and hence to recognize things, typically as a result of brain damage.
What is visual form agnosia?
a form of visual agnosia wherein a person is not capable of recognizing complex items or images, although fundamental visual operations, like acuity and visual thresholds, are preserved in the same area of the visual field.
What does visual agnosia mean?
Primary visual agnosia is a rare neurological disorder characterized by the total or partial loss of the ability to recognize and identify familiar objects and/or people by sight.
What is visuospatial agnosia?
visual agnosia inability to recognize familiar objects by sight, usually due to a lesion in one of the visual association areas. Called also object blindness and psychic blindness. … visual-spatial agnosia (visuospatial agnosia) lack of the ability to analyse and orient using visual representations and their spatial relationships.
What is environmental agnosia?
Inability to locate or identify direction leading to familiar buildings or rooms. Time Agnosia: In this type of agnosia, there is loss of ability to comprehend succession and also durations. Anosognosia: Inability to gain feedback about any condition due to lack of insight.
What are cortical deficits?
With cortical sensory or motor deficits a characteristic distribution is observed which is referred to the homunculus of the cortex
What is aprosodia?
Aprosodia is a neurological condition characterized by the inability of a person to properly convey or interpret emotional prosody. Prosody in language refers to the ranges of rhythm, pitch, stress, intonation, etc.
What are causes of aprosodia?
One cause of aprosodia is suffering brain trauma to one of several specific areas of the brain, resulting in the inability to properly process or convey emotional cues. This brain damage can occur in the form of ischemic damage from stroke, removal during surgery, brain lesions, or trauma such as a localized bullet wound.
What is Marcus-Gunn Pupil,”?
Afferent Pupillary Defect (“APD”) Also known as a “Marcus-Gunn Pupil,” the Afferent Pupillary Defect is due to dysfunction of Cranial Nerve 2 (Optic Nerve). CN-2 governs sight, and is thus stimulated by light.
Why do some people have one pupil bigger than the other?
Eye disorders such as injuries to the eye or even birth defects can make you have one pupil bigger than the other. The uneven pupil size can also be due to the side effects of a medication. There are some eye drops prescribed to treat certain eye conditions that cause the pupil to dilate or constrict.
What drug causes Dilated pupils?
Drugs and medications that can cause dilated pupils are:
Methamphetamines and other amphetamines.
Antihistamines (Including cold and allergy medications).
What illegal drugs cause constricted pupils?
illegal drugs causing constricted pupils are Narcotics: Heroin, Morphine, Narcotic Analgesics. Lethargy, drowsiness, constricted pupils that fail to respond to light, redness and raw nostrils from inhaling heroin in powder form. Scars or tracks are found on inner arms or on other parts of the body.
What are Age-Related Signs?
A number of neurological signs are reported to be more prevalent with increasing
age and related to ageing per se rather than any underlying age-related disease,
hence not necessarily of pathological significance when assessing the neurological status of older individuals, although there are methodological difficulties in reaching such conclusions.
A brief topographical overview of age-related signs includes
• Cognitive function:
Loss of processing speed, cognitive flexibility, efficiency of working
memory (sustained attention);
Preservation of vocabulary, remotely learned information including
semantic networks, and well-encoded new information.
• Cranial nerves:
I: olfactory sense diminished;
II, III, IV, VI: presbyopia; reduced visual acuity, depth perception, contrast sensitivity, motion perception; ‘senile miosis’; restricted upward
VIII: presbycusis; impaired vestibulospinal reflexes.
• Motor system:
Appearance: loss of muscle bulk; ‘senile’ tremor;
Tone: rigidity; gegenhalten/paratonia;
Power: decline in muscle strength;
Coordination: impaired speed of movement (bradykinesia).
Phasic muscle stretch reflexes: depressed or absent, especially ankle
(Achilles tendon) jerk; jaw jerk;
Cutaneous (superficial) reflexes: abdominal reflexes may be depressed
Primitive/developmental reflexes: glabellar, snout, palmomental, grasp
reflexes may be more common with ageing.
Impairments of gait; parkinsonism.
• Sensory system:
Decreased sensitivity to vibratory perception; +/− pain, temperature, proprioception
What are paratonias?
Paratonia is the inability to relax muscles during muscle tone assessment. There are two types of paratonia: oppositional and facilitatory. Oppositional paratonia (“gegenhalten”) occurs when subjects involuntarily resist to passive movements, while facilitatory paratonia (“mitgehen”) occurs when subjects involuntary assist passive movements.
What is Ageusia?
Ageusia or hypogeusia is a loss or impairment of the sense of taste (gustation).
This may be tested by application to each half of the protruded tongue the four
fundamental tastes (sweet, sour, bitter, and salt).
What are the causes of Ageusia?
Ageusia can affect people of all ages, but is most common in those above the age of 50. The recent coronavirus pandemic has also listed loss of sense of taste in some cases. Isolated ageusia is most commonly encountered as a transient feature associated with coryzal illnesses of the upper respiratory tract, as with anosmia.
What is cacogeusia?
A sensation of bad taste. A sensation of bad taste (dysgeusia) in absence of gustatory stimuli. A sensation of bad taste in response to a substance, as an adverse effect of a tranquiliser.
What is the jugular foramen syndrome (JFS)?
The jugular foramen syndrome (JFS) specifically refers to paralysis to the IX-XIth cranial nerves. In a more general meaning, however, any combination of palsies affecting the last four cranial nerves has been referred to as a JFS.
What are the Causes of jugular foramen syndrome (JFS)?
Glomus tumors (most frequently) Meningiomas Schwannomas ( Acoustic neuroma) Metastatic tumors located at the cerebellopontine angle, Trauma Fracture of occipital bone Infections Cholesteatoma (very rare), Obstruction of the jugular foramen due to bone diseases, Nasopharyngeal carcinoma
What is Agnosia?
Agnosia is a deficit of higher sensory (most often visual) processing causing impaired recognition.
What are the causes of Agnosia?
Here are a few common (and less common) causes of agnosia:
head traumas / traumatic brain injuries (TBIs)
carbon monoxide poisoning
anoxia (oxygen deficiency)
What is pure word deafness?
Pure word deafness is a deficit distinct from generalized auditory agnosia in which comprehension and repetition of speech are impaired but reading, writing, and spontaneous speech are preserved. Pure agraphia refers to the inability to program movements necessary to form written words.
What is pure auditory agnosia?
Classical (or pure) auditory agnosia is an inability to process environmental sounds. Interpretive or receptive agnosia (amusia) is an inability to understand music. Patients with pure word deafness complain that speech sounds simply do not register, or that they tend not to come up.
What is Agrammatism?
Agrammatism is a reduction in, or loss of, the production or comprehension of
the syntactic elements of language, for example articles, prepositions, conjunctions, verb endings (i.e. the non-substantive components of language), whereas
nouns and verbs are relatively spared. Despite this impoverishment of language,
or ‘telegraphic speech’, meaning is often still conveyed because of the high information content of verbs and nouns.
What is the cause of Agrammatism?
Agrammatism is encountered in Broca’s type of non-fluent aphasia, associated with lesions of the posterior inferior part of the frontal lobe of the dominant hemisphere (Broca’s area).
What is Agraphaesthesia?
Agraphaesthesia, dysgraphaesthesia, or graphanaesthesia is a loss or impairment of the ability to recognize letters or numbers traced on the skin, i.e. of graphaesthesia.
What is the cause of Agraphaesthesia?
It may occur in Corticobasal degeneration syndrome.
What is Agraphia?
Agraphia or dysgraphia is a loss or disturbance of the ability to write or
spell. Since writing depends not only on language function but also on motor,
visuospatial, and kinaesthetic function, many factors may lead to dysfunction.
What are the causes of Agraphia?
Agraphia has a multitude of causes ranging from strokes, lesions, traumatic brain injury, and dementia.
Surface/lexical/semantic dysgraphia: misspelling of irregular words, producing phonologically plausible errors (e.g. simtums for symptoms); this is seen with left temporoparietal lesions, e.g. Alzheimer’s disease, Pick’s disease;
Deep/phonological dysgraphia: inability to spell unfamiliar words and non-words; semantic errors; seen with extensive left hemisphere damage. Twelve regions of the brain are associated with handwriting.
What is Agrypnia?
Agrypnia, or agrypnia excitata, is severe, total insomnia of long duration.
What is the cause of Agrypnia?
Recognized causes include trauma to the brainstem and/or thalamus, prion disease (fatal familial and sporadic fatal insomnia), Morvan’s syndrome, von Economo’s disease, trypanosomiasis, and a relapsing-remitting disorder of possible autoimmune pathogenesis responding to plasma exchange.
What is Morvan’s syndrome?
Morvan’s syndrome is a rare, life-threatening autoimmune disease named after the nineteenth century French physician Augustin Marie Morvan. Morvan’s syndrome is characterized by involuntary and spontaneous muscle activity, muscle cramping, itching, excessive perspiration and other neurological symptoms such as insomnia, confusion and hallucinations.
What causes Morvan’s syndrome?
However, presently, there is overwhelming evidence that strongly supports an autoimmune basis in its aetiology where strong association with autoantibodies to voltage-gated potassium channel complex (VGKCs) 16) are identified.
What is Akathisia?
Akathisia is a feeling of inner restlessness, often associated with restless movements of a continuous and often purposeless nature, such as rocking to and fro, repeatedly crossing and uncrossing the legs, standing up and sitting down, and pacing up and down (forced walking, tasikinesia). Moaning, humming, and groaning may also be features. Voluntary suppression of the movements may exacerbate inner tension or anxiety.
What causes Akathisia?
Akathisia causes and risk factors. It may happen because antipsychotic drugs block receptors for dopamine in the brain. Dopamine is a chemical messenger that helps control movement. However, other neurotransmitters including acetylcholine, serotonin, and GABA have recently gained attention as possibly playing a role in this condition.
What is the treatment of Akathisia?
Treatment of akathisia by reduction or cessation of neuroleptic therapy may
help, but may exacerbate coexistent psychosis. Centrally acting β-blockers such
as propranolol may also be helpful, as may anticholinergic agents, amantadine,
clonazepam, and clonidine.
What is Tasikinesia?
Akathisia so severe that the patient cannot sit or lie.
What is a tic behaviour?
These short-lasting sudden movements (motor tics) or uttered sounds (vocal tics) occur suddenly during what is otherwise normal behaviour. Tics are often repetitive, with numerous successive occurrences of the same action. For instance, someone with a tic might blink his eyes multiple times or twitch her nose repeatedly.
Why do children have Nervous Ticks?
What they do know is that tics are often triggered by stressful situations. Children and teens who do not get enough sleep also often experience tics
Does methylphenidate cause tics?
In addition, tics can be a side effect of taking ADHD medications, such as methylphenidate (Ritalin) and the mixed amphetamine salts (Adderall). In many instances, these tics go away after the medication is discontinued.
How are tic disorders treated?
Dopamine D2 receptor antagonist therapy. On average, tic severity declines by approximately 50-80% of patients.
What is Akinesia?
Akinesia is a lack of, or an inability to initiate, voluntary movements. More
usually in clinical practice there is a difficulty (reduction, delay), rather than complete inability, in the initiation of voluntary movement, perhaps better termed
bradykinesia, or reduced amplitude of movement or hypokinesia. These difficulties cannot be attributed to motor unit or pyramidal system dysfunction.
Reflexive motor activity may be preserved (kinesis paradoxica). There may be
concurrent slowness of movement, also termed bradykinesia.
Akinesia may coexist with any of the other clinical features of extrapyramidal
system disease, particularly rigidity, but the presence of akinesia is regarded as an
absolute requirement for the diagnosis of parkinsonism. Hemi akinesia may be a
feature of motor neglect of one side of the body (possibly a motor equivalent of
sensory extinction). Bilateral akinesia with mutism (akinetic mutism) may occur
if pathology is bilateral. Pure akinesia, without rigidity or tremor, may occur:
if levodopa-responsive, this is usually due to Parkinson’s disease;
if levodopa unresponsive, it may be the harbinger of progressive supranuclear palsy.
A few patients with PSP have ‘pure akinesia’ without other features until late in the
What are the causes of Akinesia?
In adults, some of the causes associated with akinesia include:
Medication-induced Parkinson’s-like symptoms:
Progressive supranuclear palsy (PSP),(Steele–Richardson–Olszewski syndrome),
• Neurodegeneration, e.g. Parkinson’s disease, progressive supranuclear palsy
multiple system atrophy,(striatonigral degeneration);
akinesia may occur in frontotemporal lobar degeneration syndromes,
• Neoplasia, e.g. butterfly glioma of the frontal lobes;
• Cerebrovascular disease.
What is Kinesia paradoxa?
is a phenomenon most often seen in people with Parkinson’s disease where individuals who typically experience severe difficulties with the simple movements may perform complex movements easily. Specifically, Kinesia paradoxa focuses on walking, referring to the sudden ability to demonstrate smooth, fluid movements in people that previously had problems with walking easily.
What is Akinetic Mutism?
Akinetic mutism is a ‘syndrome of negatives’, characterized by a lack of voluntary movement (akinesia), absence of speech (mutism), and lack of response to question and command, but with normal alertness and sleep–wake cycles (cf. coma). Blinking (spontaneous and to threat) is preserved. Frontal release signs, such as grasping and sucking, may be present.
What are the causes of Akinetic Mutism?
It may occur due to damage in frontal lobe region. …
Thalamic stroke is also a main reason because thalamus is responsible for controlling consciousness and alertness in body.
Destruction of cingulate gyrus, used in treatment of psychosis, lead to Akinetic mutism, apathy and indifference to any external stimuli like pain.
What is Athymhormia?
Athymhormia is a disorder of motivation, one of that class of neuro-psychiatric conditions marked by abnormalities or deficiencies in motivation. Symptoms include the loss or reduction of desire and interest toward previous motivations, loss of drive and the desire for satisfaction, curiosity, the loss of tastes and preferences, and flat affect. In athymhormia, however, these phenomena are not accompanied by the characterizing features of depression nor by any notable abnormality in intellectual or cognitive function.
What are frontal release signs?
Frontal release signs are primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes. The appearance of such signs reflects the area of brain dysfunction rather than a specific disorder which may be diffuse such as a dementia, or localised such as a tumour.
What is palmar grasp reflex?
The Palmar or Grasping reflex emerges at 11 weeks in utero and is strongest in the first 3 months after birth. This grasping reflex is demonstrated by putting your finger across the palm of a babies hand causing the fingers to immediately close around the finger and grip it.
When does the grasp reflex disappear?
The palmar reflex disappears around the sixth month. Similarly, the plantar reflex occurs by placing a finger against the base of the neonate’s toes and the toes curl downward to grasp the finger. This reflex becomes inhibited around the ninth to tenth month.
When does Moro reflex stop?
Your baby may or may not cry when they do this. This is an involuntary startle response called the Moro reflex. Your baby does this reflexively in response to being startled. It’s something that new born babies do and then stop doing within a couple of months.
When does the rooting reflex disappear?
The reflex typically disappears between the ages of 3 to 6 months. Sucking reflex is probably one of the most important new born reflexes, especially when paired with the rooting reflex.
When does the Babinski reflex disappear?
The Babinski reflex usually disappears around one year of age. If the Babinski reflex persists beyond the second birthday, it may be a sign of a nervous system disorder
What are survival reflexes?
Survival reflexes are what kick in when you are in danger it can be as simple as you flinching when someone pretends to punch you to your mind shutting out all emotion and thought when you are in a life and death battle… If someone has a knife and is running towards you, you will do anything possible to disable/kill them.
What is a rooting reflex?
A reflex that is seen in normal new born babies, who automatically turn the face toward the stimulus and make sucking (rooting) motions with the mouth when the cheek or lip is touched. The rooting reflex helps to ensure successful breastfeeding.
What is Babinski’s sign and what does it indicate?
Babinski reflex, Babinski sign extension upward of the toes when the sole of the foot is stroked firmly on the outer side from the heel to the front; normal in infants under the age of two years but a sign of brain or spinal cord injury in older persons.
What does a positive Babinski reflex in adults mean?
If the Babinski reflex, or a positive Babinski sign, happens in children over 2 or in adults. This can indicate underlying neurological conditions, nervous system disorders, or brain disorders. These include: upper motor neuron lesion. cerebral palsy. strokes. brain injury or brain tumors. spinal cord tumour or injury.
What causes the Babinski reflex?
Some of the less common causes of Babinski’s reflex may include: Pernicious anaemia. Poliomyelitis. Rabies. Spinal cord injury. Spinal cord tumour.
What causes a positive Babinski sign?
In adults or children over 2 years old, a positive Babinski sign happens when the big toe bends up and back to the top of the foot and the other toes fan out. This can mean that you may have an underlying nervous system or brain condition that’s causing your reflexes to react abnormally. Remember it is a sing and not a reflex.
What is sucking reflex?
Sucking reflex – from birth, your baby will be able to suck. The sucking reflex is one of the last reflexes to develop in the womb, so premature babies often don’t have this reflex.
What is Romberg’s test?
Romberg’s test, Romberg’s sign, or the Romberg maneuver is a test used in an exam of neurological function for balance, and also as a test for driving under the influence of an intoxicant.
What does a positive Romberg sign mean?
A positive Romberg sign may indicate a condition called tabes dorsalis, myelopethies of multiple causes, sensory neuropathies or other nervous system disorders.
What is Akinetopsia?
Akinetopsia is a specific inability to see objects in motion, the perception of other visual attributes, such as colour, form, and depth, remaining intact. This statokinetic dissociation may be known as Riddoch’s phenomenon; the syndrome may also be called cerebral visual motion blindness. Such cases, although exceptionally rare, suggest a distinct neuroanatomical substrate for movement vision, as do cases in which motion vision is selectively spared in a scotomatous area (Riddoch’s syndrome). Akinetopsia reflects a lesion selective to area V5 of the visual cortex. Clinically, it may be associated with acalculia and aphasia.
What is Riddoch’s syndrome?
Riddoch syndrome (also known as the Riddoch phenomenon) is a form of visual impairment which limit the sufferer’s ability to distinguish objects. Only moving objects in a blind field are visible, static ones being invisible to the patient. The moving objects are not perceived to have colour or detail.
What is the cause of Riddoch’s syndrome?
It is caused by lesions in the occipital lobe.
What is aphasia and what can cause it?
Aphasia is a language disorder that’s caused by damage to the brain. Aphasia is a condition characterized by the sudden loss of the ability to communicate. It occurs most commonly after a brain injury and most commonly by a stroke. Other, less common causes of the condition include a brain tumour or a progressive neurological disease.
What are the signs and symptoms of aphasia?
People with expressive aphasia may have some of the following signs and symptoms: slow and halting speech – with difficulty constructing a sentence. struggling to get certain words out – such as the names of objects, places or people.
What is the difference between Aphasia and dementia?
is that aphasia is (pathology) a partial or total loss of language skills due to brain damage usually, damage to the left perisylvian region, including broca’s area and wernike’s area, causes aphasia while dementia is (pathology) a progressive decline in cognitive function due to damage or disease in the brain beyond what might be expected.
What is aphasia and how to treat it?
For people with aphasia, speech and language therapy aims to: help restore as much of your speech and language as possible (reduce impairment) help you communicate to the best of your ability (increase activity and participation) find alternative ways of communicating (use compensatory strategies or aids)
Is aphasia permanent?
Aphasia may be temporary or permanent, depending upon which part of the brain is damaged and the severity of damage. About half of the individuals who show signs of aphasia have a temporary or transient form of aphasia, and complete recovery is possible within a few days.
What is the difference between apraxia of speech and aphasia?
Aphasia is a language disorder while Apraxia is a disorder of motor planning. 3. Aphasia is difficulty in comprehending and producing languages, while Apraxia is difficulty in responding to certain commands.
What is anomic aphasia?
Anomic aphasia is a language condition that makes word-retrieval difficult, especially for nouns. In rare cases this condition is genetic. Most of the time, however, anomic aphasia is caused by damage to the language center of the brain from stroke or other trauma.
What are the different types of apraxia?
The list of types of Apraxia mentioned in various sources includes:
Limb-kinetic aphasia – loss of fine movements.
Ideomotor aphasia – loss of motor control.
Ideational aphasia – loss of planning ability for movements.
Buccofacial aphasia (facial-oral aphasia) – loss of facial movement control; most common form.
Verbal aphasia – loss of control…
What is CAS speech disorder?
Childhood apraxia of speech (CAS) is an uncommon speech disorder in which a child has difficulty making accurate movements when speaking. In CAS, the brain struggles to develop plans for speech movement.
What is conceptual apraxia?
Ideational apraxia is the inability to do an activity that involves performing a series of movements in a sequence. A person with this condition could have trouble dressing, eating, or bathing. It is also known as conceptual apraxia. Oculomotor apraxia is characterized by difficulty moving the eyes.
How to treat phonological processes?
While the prospect of therapy might sound daunting, treatment of phonological disorders is often a very straightforward process. Treatment may involve demonstrating how to produce the sound correctly, learning to recognize correct and incorrect sounds, and practicing sounds in different words through repetition.
What are the five articulators?
Unlike the passive articulation, which is a continuum, there are five discrete active articulators: the lip (labial consonants), the flexible front of the tongue (coronal consonants: laminal, apical, and subapical), the middle–back of the tongue (dorsal consonants), the root of the tongue together with the epiglottis (pharyngeal or radical).
What is the difference between language and speech disorders?
The Difference Between Speech and Language Disorders. When a person’s speech does not flow smoothly due to repetition of words or parts of a word. Language disorders, which can be spoken or written, make it difficult for a person to comprehend things or fully share his or her thoughts, ideas and feelings.
How to treat language processing disorders?
Speech Therapy. This also works well for families with complex schedules that won’t allow for the more strictly scheduled group therapy session.
How is auditory processing disorder (APD) diagnosed?
An audiologist, can diagnose auditory processing disorder (APD). The audiologist will do a series of advanced listening tests in which your child will listen to different sounds and respond when she hears them.
What is Alexia?
Alexia is an acquired disorder of reading. The word dyslexia, though in some
ways equivalent, is often used to denote a range of disorders in people who fail
to develop normal reading skills in childhood. Alexia may be described as an
What is the cause of Alexia?
Pure alexia can be caused by a single lesion strategically placed in the region behind, beneath, and under the occipital horn of the left lateral ventricle, by damaging pathways en route from the callosum and pathways en route from the left visual association cortex.
What is Wernicke’s aphasia?
A condition characterized by either partial or total loss of the ability to understand what is being said or read. The individual maintains the ability to speak, but speech may contain unnecessary or made-up words.
What is Broca’s aphasia?
Broca’s aphasia is a type of aphasia characterized by a lack of fluency of speech, usually with preserved language comprehension.
What is saccadic eye movement?
A saccade is a quick, simultaneous movement of both eyes between two phases of fixation in the same direction. A saccade is a rapid, conjugate, eye movement that shifts the center of gaze from one part of the visual field to another. The phenomenon can be associated with a shift in frequency of an emitted signal or a movement of a body part or device.
What is saccadic disorder?
Saccadic disorders may produce abnormal latency to initiate eye movements, abnormal speed of eye movements (generally slow), or abnormal accuracy of eye movements (hypometria or hypermetria). Reduced saccade velocity, frequently called “slow saccades” are typically seen in a classic disorder of the midbrain called progressive supranuclear palsy. It is also traditionally diagnostic of spinocerebellar ataxia type 2. In addition to its common causes, the slowness of vertical saccades is not rare in cerebellar disorders.
What is ocular pursuit?
It is the motions of the eyes to try to preserve focus on a progressing objective. Commonly referred to as ocular pursuit.
What is visual presuit?
Visual pursuit is a common visual skill needed in baseball, basketball, or any sport with a fast-moving object. “.
What is Simultanagnosia?
Simultanagnosia (or simultagnosia) is a rare neurological disorder characterized by the inability of an individual to perceive more than a single object at a time. This type of visual attention problem is one of three major components (the others being optic ataxia and optic apraxia) of Bálint’s syndrome, an uncommon and incompletely understood variety of severe neuropsychological impairments involving space representation (visuospatial processing).
What is saccadic masking?
Saccadic masking, also known as (visual) saccadic suppression, is the phenomenon in visual perception where the brain selectively blocks visual processing during eye movements in such a way that neither the motion of the eye (and subsequent motion blur of the image) nor the gap in visual perception is noticeable to the viewer.
What is the role of saccades in Parkinsonian disorders?
Saccades have an important diagnostic role in differentiating parkinsonian disorders (Video segment 1). Their most obvious utility is in PSP, where vertical supranuclear gaze palsy (VSGP) including slowing of vertical saccades is a crucial diagnostic feature.
Can Parkinson s disease be seen on self-paced saccades?
Hypometric vertical and/or horizontal saccades can sometimes be seen, especially on self-paced saccades [23–25], but these may need special eye movement recording techniques to detect. Clinically (with gross observation at the bedside), saccadic abnormalities are subtle except in severe cases.
What is Alexithymia?
Alexithymia is a reduced ability to identify and express ones feelings. This may
contribute to various physical and behavioural disorders
What is the cause of Alexithymia?
Alexithymia is a common finding in split-brain patients, perhaps resulting from
disconnection of the hemispheres.
What is ‘Alice in Wonderland’ Syndrome?
The name ‘Alice in Wonderland’ syndrome was coined by Todd in 1955 to
describe the phenomena of microsomatognosia or macrosomatognosia, altered
perceptions of body image, although these had first been described by Lippman
in the context of migraine some years earlier. It has subsequently been suggested
that Charles Lutwidge Dodgson’s own experience of migraine, recorded in his
diaries, may have given rise to Lewis Carroll’s descriptions of Alice’s changes in
body form, graphically illustrated in Alice’s Adventures in Wonderland (1865) by
Sir John Tenniel.
Other conditions may also give rise to the phenomena of microsomatognosia
or macrosomatognosia, including epilepsy, encephalitis, cerebral mass lesions,
schizophrenia, and drug intoxication.
What is the story behind Alice in wonderland?
In 1955, English psychiatrist John Todd (1914-1987) described Alice in Wonderland syndrome.
The term applied to altered bizarre perceptions of size and shapes of a patient’s body and illusions of changes in the forms, dimensions, and motions of objects that a patient with this syndrome encounters.
John Todd named Alice in Wonderland syndrome for the perceptual disorder of altered body image experienced by Alice, the key character in the novel Alice’s Adventures in Wonderland (1865), written by Lewis Carroll (the pseudonym of Reverend Charles Lutwidge Dodgson [1832-1898]).
The author suggests that Dodgson suffered from migraine headaches and used these experiences to weave an amusing tale for Alice Liddell.
The transient episodes of visual hallucinations and perceptual distortions, during which objects or body parts are perceived as altered in various ways (metamorphopsia), including enlargement (macropsia) or reduction (micropsia) in the perceived size of a form.
These metamorphopsias arise during complex partial seizures, migraine headaches, infections, and intoxications.
Such episodes are of short duration (generally less than an hour), variable frequency (up to several times per day), and unpredictable onset.
Cases of “Alice in Wonderland” syndrome have been described associated with infectious mononucleosis.
In each clinical case, the classical infectious mononucleosis symptoms and diagnosis followed the onset of visual aberration.
Nuclear medicine techniques are able to demonstrate changes in cerebral perfusion and may be used to detect abnormal cerebral areas in patients with Alice in Wonderland syndrome.
This uncommon, but often easy to recognise syndrome, to which children seem particularly susceptible, have been reported in patients with Epstein-Barr Virus infection.
Few cases have been reported following varicella and coxsackievirus B1 infection.
A case of Alice in Wonderland syndrome was reported in a 7-year-old boy associated with Lyme Disease.
He presented with metamorphopsia and auditory hallucinations in the absence of previous tick bites or other signs of Lyme disease.
The book tells what happened to Alice after she followed a talking white rabbit into a rabbit hole and down into the depths of the earth where she met all sorts of interesting creatures.
She experienced several dramatic changes in her own body size and shape (Example: shrinking to 10 inches high, growing unnaturally large and tall).
The medical symptoms of distorted body images match the literary description so precisely that illustrations from the original book depict them very accurately.
“Mad Hatter” of Alice’s Adventures in Wonderland earned his name because he exhibited psychotic behaviour from mercury poisoning. The first description of mercurialism in hatters was published by J. Addision Freeman, M.D., in Transactions of the Medical Society of New Jersey in 1860, just 5 years before Lewis Carrol’s famous tale.
This condition typically affects young children, and the most common visual complaints are micropsia (objects appear smaller than their actual size) and teleopsia (visual disturbance in which objects appear to be farther away than they actually are).
The most common associated condition is infection (mainly Epstein-Barr virus infection), but half of these individuals have no obvious trigger.
Magnetic resonance imaging and electroencephalography are not helpful.
Alice in Wonderland Syndrome is a benign process and there is spontaneous resolution without recurrence in the majority of cases.
In about one third of patients, the symptoms continue and one quarter of patients without a history of migraine may subsequently develop migraine.
What is Alien Grasp Reflex?
The term alien grasp reflex has been used to describe a grasp reflex occurring
in full consciousness, which the patient could anticipate but perceived as alien
(i.e. not modified by will), occurring in the absence of other abnormal movements.
What are the causes of Alien Grasp Reflex?
These phenomena were associated with an intrinsic tumour of the right
(non-dominant) frontal lobe.
What is Spontaneous arm levitation (SAL)?
Spontaneous arm levitation (SAL) is well-recognized in cortical–basal ganglionic degeneration, but not in other neurodegenerative diseases
What is an alien hand syndrome?
Alien hand syndrome (AHS) or Dr. Strangelove syndrome is a category of conditions in which a person experiences their limbs acting seemingly on their own, without conscious control over the actions.
When was alien hand syndrome discovered?
Here are a few facts about alien hand syndrome: It was first recorded in 1909. Alien hand syndrome usually affects the left or nondominant hand. One of the characters in Stanley Kubrick’s 1964 film has alien hand syndrome. Because of this, some people refer to alien hand syndrome as Dr. Strangelove syndrome.
What is alien limb?
An alien limb, most usually the arm but occasionally the leg, is one which manifests slow, involuntary, wandering (levitating), quasi-purposive movements. An arm so affected may show apraxic difficulties in performing even the simplest tasks and may be described by the patient as uncooperative or ‘having a mind of its own’ (hence alternative names such as anarchic hand sign, le main étranger, and ‘Dr Strangelove syndrome’). These phenomena are often associated with a prominent grasp reflex, forced groping, intermanual conflict, and magnetic movements of the hand. Different types of alien hand have been described, reflecting the differing anatomical locations of underlying lesions
What is the cause of alien limb?
Damage to the corpus callosum — a wide swath of white matter connective fibers that provides much of the communication between both cerebral hemispheres — can also result in alien limb syndrome. Strokes or tumors are the most common cause of the lesions that produce this disorder.
A paroxysmal alien hand has been described, probably related to seizures of frontomedial origin.
What is alien hand?
The anarchic hand (Alien hand) is characterized by the occurrence of complex movements of an upper limb that are unintended but well-executed and goal-directed.1 There are reports describing patients with a wide variety of dissociative spontaneous and involuntary movements between the right and left hands following a lesion in the mesio-frontal cortex or anterior corpus callosum.
What is Utilization behaviour?
Utilization Behavior (UB) is a type of neurobehavioral disorder that involves patients grabbing objects in view and starting the ‘appropriate’ behaviour associated with it at an ‘inappropriate’ time. Utilization behaviour patients have difficulty resisting the impulse to operate or manipulate objects which are in their visual field and within reach.
What is Intermanual conflict?
Intermanual conflicts due to unintended actions of the apraxic hand have been interpreted as manifestation of conflicting intentions of disconnected hemispheres. On scrutiny, however, the majority of them seem to be due to the propensity of the disobedient hand to perform actions that are intended to be performed by the other hand.
What is Mirror movement?
Mirror movement refers to simultaneous contralateral, involuntary, identical movements that accompany voluntary movements.
What is Alienation Du Mot?
A loss of the feeling of familiarity with a word, part of the comprehension deficit
seen in semantic dementia.
What is Alloacousia?
Alloacousia describes a form of auditory neglect seen in patients with unilateral
spatial neglect, characterized by spontaneous ignoring of people addressing the
patient from the contralesional side, failing to respond to questions, or answering
as if the speaker were on the ipsilesional side.
What is neglect?
Neglect is primarily a disorder of attention whereby patients characteristically fail to orientate, to report or to respond to stimuli located on the contralesional side. Neglect is usually caused by large strokes in the middle cerebral artery territory and is heterogeneous, such that most patients do not manifest every feature of the syndrome.
What is sensory neglect?
In sensory neglect, patients ignore visual, somatosensory, or auditory stimuli on the affected side, despite intact primary sensation (see Neuroanatomy through Clinical Cases, Chapter 19). This can often be demonstrated by testing for extinction on double simultaneous stimulation.
What is hemispatial neglect?
Hemispatial neglect is a neuropsychological condition in which, after damage to one hemisphere of the brain is sustained, a deficit in attention to and awareness of one side of the field of vision is observed.
What is unilateral neglect?
Patients with the most severe unilateral neglect are obvious “from the end of the bed”—that is, the diagnosis may be made by simple observation from a distance. The patient with a large infarct in the right middle cerebral artery territory may have their head and eyes turned to the extreme right and never gaze to the left.
What is Alloaesthesia?
Alloaesthesia (allesthesia, alloesthesia) is the condition in which a sensory stimulus given to one side of the body is perceived at the corresponding area on the other side of the body after a delay of about half a second.
What is the cause of Alloaesthesia?
Tactile alloaesthesia may be seen in the acute stage of right putaminal haemorrhage (but seldom in right thalamic haemorrhage) and occasionally with anterolateral spinal cord lesions. The author
has seen a patient report sensation below the stump of an amputated leg following stimulation of the contralateral remaining leg, a phenomenon which might be termed ‘phantom alloaesthesia’
What is Right–left disorientation?
Research of Right-left Disorientation has been linked to Disorientation, Agnosia, Dyscalculia, Confusion, Agraphia. Linked to aphasia and other comprehension disorders, an affliction marked by a habitual tendency to incorrectly identify right from left sides or right and left directions, which can also be present without any affliction.
What is Allochiria?
Allochiria is the mislocation of sensory stimuli to the corresponding half of the body or space, a term coined by Obersteiner in 1882.
What is the cause of Allochiria?
Transposition of objects may occur in patients with neglect, e.g. from the neglected side (usually left) to the opposite side (usually right): for example, in a patient with left visuospatial neglect from a right frontoparietal haemorrhage, a figure was copied with objects from the left side transposed to the right.
What is Allodynia?
Allodynia is a condition where pain is caused by a stimulus that does not normally elicit pain. For example, bad sunburn can cause temporary allodynia, and touching sunburned skin, or running cold or warm water over sunburned skin can be very painful. It is different from hyperalgesia, an extreme, exaggerated reaction to a stimulus which is normally painful. Allodynia is the elicitation of pain by light mechanical stimuli (such as touch or light pressure) which do not normally provoke pain (cf. hyperalgesia), i.e. this is a positive sensory phenomenon.
What is cause of Allodynia?
Examples of allodynia include the trigger points of trigeminal neuralgia, the affected skin in areas of causalgia, and some peripheral neuropathies; it may also be provoked, paradoxically, by prolonged morphine use. Allodynia is a clinical feature of many painful conditions, such as neuropathies, complex regional pain syndrome, postherpetic neuralgia, fibromyalgia, and migraine. Allodynia may also be caused by some populations of stem cells used to treat nerve damage including spinal cord injury.
What is treatment of Allodynia?
The treatment of neuropathic pain is typically with agents such as carbamazepine, amitriptyline, gabapentin, and pregabalin. Interruption of sympathetic outflow, for example with regional guanethidine blocks, may sometimes help, but relapse may occur.
What is Hyperalgesia?
Hyperalgesia is a pain response to stimuli that are not normally painful, induced by the lowering of the nociceptor threshold level. Hyperalgesia and allodynia are frequent symptoms of disease and may be useful adaptations to protect vulnerable tissues.
Hyperpathia is a clinical symptom of certain neurological disorders wherein nociceptive stimuli evoke exaggerated levels of pain. This should not be confused with allodynia, where normally non-painful stimuli evoke pain.
What is Cheyne-Stokes breathing?
Cheyne-Stokes breathing is a crescendo-decrescendo pattern of periodic breathing in which phases of hyperpnea regularly alternate with apnea. Cheyne-Stokes respirations are seen most often with lesions affecting both cerebral hemispheres.
What is central neurogenic hyperventilation?
Central neurogenic hyperventilation is a sustained, rapid, deep hyperpnea. It is produced by lesions in the low midbrain to upper one-third of the pons.
What is apneustic breathing?
Apneusis is a prolonged respiratory cramp, a pause at full inspiration. Apneustic breathing may occur after damage to the mid or caudal pons.
What is cluster breathing?
Cluster breathing, a disorderly sequence of breaths with irregular pauses between the breaths, may result from damage to the lower pons or upper medulla.
What is ataxic breathing?
It is a completely irregular pattern of breathing in which both deep and shallow breaths occur randomly. The respiratory rate tends to be slow. The lesion that causes it is in the central medulla.
What is Allographia?
This term has been used to describe a peripheral agraphia syndrome characterized by problems spelling both words and non-words, with case change errors such that upper- and lower-case letters are mixed when writing, with upper- and lower-case versions of the same letter sometimes superimposed on one another.
Such errors increased in frequency with word length.
What is Allokinesia, Allokinesis?
Allokinesis has been used to denote a motor response in the wrong limb (e.g.
movement of the left leg when attempting to move a paretic left arm) or transposition of the intended movement to the contralateral side; the movement may
also be in the wrong direction. Others have used the term to denote a form of
motor neglect, akin to alloaesthesia and allochiria in the sensory domain, relating to incorrect responses in the limb ipsilateral to a frontal lesion, also labelled disinhibition hyperkinesia.
What are the different types of cover testing?
If a patient is unable to maintain constant fixation on an accommodative target, the results of cover testing may not be valid, and this battery of tests therefore should not be used. There are 3 types of cover tests: the cover-uncover test, the alternate cover test, and the simultaneous prism and cover test.
What is Alternating Fist Closure Test?
In the alternating fist closure test, patients are asked to open and close the fists alternating (i.e. open left, close right, and vice versa) at a comfortable rate.
Patients with limb-kinetic apraxia cannot keep pace and lose track.
What are Frontal lobe syndromes?
Frontal lobe disorder is an impairment of the frontal lobe that occurs due to disease or head trauma. The frontal lobe of the brain plays a key role in higher mental functions such as motivation, planning, social behaviour, and speech production.
What are the causes of Frontal lobe syndromes?
A frontal lobe syndrome can be caused by a range of conditions including head trauma, tumours, degenerative diseases, neurosurgery and cerebrovascular disease.
What diseases are in the frontal lobe?
Psychiatric diseases such as schizophrenia and major depression. In addition, any neurologic or psychiatric disease that can affect the frontal lobe (eg, multiple sclerosis, CNS lupus) may be associated with frontal lobe dysfunction.
What is Foster Kennedy syndrome?
It is caused due to tumour of frontal lobe and gives rise to ipsilateral optic atrophy and contralateral papilledema.
What is Rett syndrome?
Rett syndrome (RTT) is a genetic brain disorder that typically becomes apparent after 6 to 18 months of age in females. Symptoms include problems with language, coordination, and repetitive movements.
What is Akinetic mutism?
Akinetic mutism is a medical term describing patients tending neither to move (akinesia) nor speak (mutism). Akinetic mutism was first described in 1941 as a mental state where patients lack the ability to move or speak. However, their eyes may follow their observer or be diverted by sound. Patients lack most motor functions such as speech, facial expressions, and gestures, but demonstrate apparent alertness. They exhibit reduced activity and slowness, and can speak in whispered monosyllables. Patients often show visual fixation on their examiner, move their eyes in response to an auditory stimulus, or move after often repeated commands. Patients with akinetic mutism are not paralyzed, but lack the will to move. Many patients describe that as soon as they ‘will’ or attempt a movement, a ‘counter-will’ or ‘resistance’ rises up to meet them.
What is the cause of Akinetic mutism?
Akinetic mutism can be caused by a variety of things. It often occurs after brain injury or as a symptom of other diseases. Akinetic mutism is often the result of severe frontal lobe injury in which the pattern of inhibitory control is one of increasing passivity and gradually decreasing speech and motion
What are Altitudinal Field Defect?
Altitudinal visual field defects are horizontal hemianopias, in that they respect the horizontal meridian; they may be superior or inferior. Altitudinal field defects are characteristic of (but not exclusive to) disease in the distribution of the central retinal artery. Central vision may be preserved (macula sparing) because the blood supply of the macula often comes from the cilioretinal arteries.
What are the causes of Altitudinal Field Defect?
Recognized causes of altitudinal visual field defects include
Central retinal artery occlusion (CRAO);
Acute ischaemic optic neuropathy (AION);
Chronic atrophic papilloedema.
What is Amaurosis?
Amaurosis is visual loss, with the implication that this is not due to refractive error or intrinsic ocular disease.
What is the cause of Amaurosis?
The term is most often used in the context of amaurosis fugax, a transient monocular blindness, which is most often due to embolism from a stenotic ipsilateral internal carotid artery (ocular transient ischaemic attack). Giant cell arteritis, systemic lupus erythematosus, and the antiphospholipid antibody syndrome is also recognized causes. Gaze-evoked amaurosis has been associated with a variety of mass lesions and is thought to result from decreased blood flow to the retina from compression of the central retinal artery with eye movement.
What is Amblyopia?
Amblyopia refers to poor visual acuity, most usually in the context of a ‘lazy eye’, in which the poor acuity results from the failure of the eye to establish normal cortical representation of visual input during the critical period of visual maturation (between the ages of 6 months and 3 years). Amblyopic eyes may demonstrate a relative afferent pupillary defect and sometimes latent nystagmus.
What is the cause of Amblyopia?
This may result from:
• uncorrected refractive error;
• stimulus deprivation.
Amblyopia may not become apparent until adulthood, when the patient suddenly becomes aware of unilateral poor vision.
What is tobacco–alcohol amblyopia?
The word amblyopia has also been used in other contexts: bilateral simultaneous development of central or centrocaecal scotomas in chronic alcoholics has often been referred to as tobacco–alcohol amblyopia, although nutritional optic neuropathy is perhaps a better term.
What is Amnesia?
Amnesia is an impairment of episodic memory or memory for personally experienced events (autobiographical memory).
Amnesia may be retrograde (for events already experienced) or anterograde for newly experienced events). Retrograde amnesia may show a temporal gradient, with distant events being better recalled than more recent ones, relating to the duration of anterograde amnesia.
In a pure amnesic syndrome, intelligence and attention are normal and skill acquisition
(procedural memory) is preserved. Amnesia may occur as one feature of more
widespread cognitive impairments, e.g. in Alzheimer’s disease.
What are the causes of Amnesia?
Many causes of amnesia are recognized, including
Closed head injury;
Transient global amnesia;
Transient epileptic amnesia;
Alzheimer’s disease (may show isolated amnesia in early disease);
Sequela of herpes simplex encephalitis;
Limbic encephalitis (paraneoplastic or non-paraneoplastic);
Hypoxic brain injury;
Temporal lobectomy (bilateral; or unilateral with previous contralateral injury, usually birth asphyxia);
Bilateral posterior cerebral artery occlusion;
Bilateral thalamic infarction;
Third ventricle tumour, cyst;
Functional or psychogenic amnesia may involve failure to recall basic autobiographical details such as name and address.
What is amimia?
Medical definition of loss or impairment of the power of communicating thought by gestures, due to cerebral disease or injury.
What is the meaning of dissociation?
Dissociation is a coping skill used to separate the person from the traumatic event(s) and memories of the traumatic event(s). Children find it particularly easy to “step out of themselves” as their identity is still forming. … When a person experiences a dissociative disorder, these symptoms cause significant distress or impairment in important areas of functioning such as at school or interpersonally.
What are the types of dissociative disorders?
Types of Dissociative Disorders
Dissociative Amnesia: This is the most common type of dissociative disorder.
Depersonalization/Derealization Disorder: This condition is characterized by consistent, ongoing,
Dissociative Identity Disorder (DID): Although all dissociative conditions were at one time lumped.
What is dissociation in borderline personality disorder?
Dissociation is a hallmark of borderline personality disorder (BPD). BPD is marked by rapid mood swings and unstable shifts in identity and relationships.
Why do people get dissociative identity disorder?
Dissociative identity disorder is thought to stem from a combination of factors that may include trauma experienced by the person with the disorder.
Who are some famous people with dissociative identity disorder?
Here is a list of famous people with dissociative identity disorder:
What is pathological dissociation?
More pathological dissociation involves dissociative disorders, including dissociative fugue and depersonalization disorder with or without alterations in personal identity or sense of self.
What is Amphigory?
Fisher used this term to describe nonsense speech.
What is Amusia?
Amusia is a loss of the ability to appreciate music despite normal intelligence, memory, and language function.
Amusia may occur in the context of more widespread cognitive dysfunction, such as aphasia and agnosia. It has been found in association with pure word deafness, presumably as part of a global auditory agnosia. Isolated amusia has been reported in the context of focal cerebral atrophy affecting the nondominant temporal lobe.
What is Amyotrophy?
Amyotrophy is a term used to describe thinning or wasting (atrophy) of musculature with attendant weakness.
What are the causes of Amyotrophy?
This may result from involvement of:
Lower motor neurones (in which case fasciculations may also be present):
Amyotrophic lateral sclerosis/motor neurone disease;
Diabetic amyotrophy (polyradiculopathy, especially L2–L4).
What is Anaesthesia?
Anaesthesia (anaesthesia) is a complete loss of sensation; hypaesthesia (hypaesthesia, hypesthesia) is a diminution of sensation. Hence in Jacksonian terms,
these are negative sensory phenomena. Anaesthesia may involve all sensory modalities (global anaesthesia, as in general surgical anaesthesia) or be selective (e.g. thermoanaesthesia, analgesia). Regional patterns of anaesthesia are described, e.g. ‘glove-and-stocking anaesthesia’ in peripheral neuropathies and ‘saddle anaesthesia’ involving S3-5 dermatomes resulting from a cauda equina syndrome.
This deafferentation pain may respond to various medications, including tricyclic antidepressants, carbamazepine, gabapentin, pregabalin, and selective serotonin-reuptake inhibitors.
What is Analgesia?
Analgesia or hypoalgesia refers to a complete loss or diminution, respectively, of
pain sensation, or the absence of a pain response to a normally painful stimulus.
Consequences of analgesia include the development of neuropathic ulcers, burns, Charcot joints, even painless mutilation, or amputation.
What is the cause of Analgesia?
Analgesia may occur in:
• peripheral nerve lesions, e.g. hereditary sensory and autonomic neuropathies (HSAN), leprosy;
• central spinal cord lesions which pick off the decussating fibres of the spinothalamic pathway in the ventral funiculus (with corresponding thermoanaesthesia), e.g. syringomyelia;
• cortical lesions, e.g. medial frontal lobe syndrome (akinetic type).
What is Anal Reflex?
Contraction of the external sphincter ani muscle in response to a scratch stimulus in the perianal region, testing the integrity of the S4/S5 roots, forms the anal or wink reflex. This reflex may be absent in some normal elderly individuals, and absence does not necessarily correlate with urinary incontinence.
External anal responses to coughing and sniffing are part of a highly consistent and easily elicited polysynaptic reflex, whose characteristics resemble those of the conventional scratch-induced anal reflex.
What is Anarthria?
Anarthria is the complete inability to articulate words (cf. dysarthria).
What is the cause of Anarthria?
This is most commonly seen as a feature of the bulbar palsy of motor neurone disease.
A pure progressive anarthria or slowly progressive anarthria may result from focal degeneration affecting the frontal operculum bilaterally (so-called Foix–Chavany–Marie syndrome).
What is Foix–Chavany–Marie syndrome?
Foix-Chavany-Marie syndrome (FCMS) is a rare cortical type of pseudobulbar palsy characterized by the loss of voluntary control of the facial, pharyngeal, lingual, and masticatory muscles with preserved reflexive and autonomic functions. FCMS is generally associated with cerebrovascular diseases affecting the bilateral opercular regions.
What causes Foix Chavany Marie Syndrome?
Cerebrovascular disease. Strokes are one of the most common causes of Foix-Chavany-Marie Syndrome. The type of strokes associated with this syndrome include embolic and thrombotic strokes. Strokes affecting the middle cerebral artery and the branches that pass through or near the operculum are characteristic of FCMS.
What is abstract Foix Chavany Marie Syndrome?
Abstract Foix-Chavany-Marie syndrome is characterized by bilateral facio-glosso-pharyngo-masticatory paralysis of voluntary movement due to bilateral anterior opercular lesions.
What is fix Chavany Marie Syndrome?
Foix-Chavany-Marie Syndrome (FCMS), also known as Bilateral Opercular Syndrome, is a neuropathological disorder characterized by paralysis of the facial, tongue, pharynx, and masticatory muscles of the mouth that aid in chewing. The disorder is primarily caused by thrombotic and embolic strokes.
What is bulbar palsy?
Bulbar relates to the medulla. Bulbar palsy is the result of diseases affecting the lower cranial nerves (VII-XII). A speech deficit occurs due to paralysis or weakness of the muscles of articulation which are supplied by these cranial nerves.
Bulbar palsy is sometimes also classified as non-progressive or progressive. Non-progressive bulbar palsy is an uncommon condition of uncertain aetiology and there are few reports of it in the literature. Progressive bulbar palsy can occur in children or adults and form a spectrum of severity, based around the common feature of bulbar dysfunction and motor neurone degeneration. Genetic abnormalities have been identified in some cases presenting in childhood. Brown-Vialetto-Van Laere and Fazio-Londe syndromes are the most recent childhood forms of progressive bulbar palsy to be genetically defined.
What is the clinical features of bulbar palsy?
Lips – tremulous.
Tongue – weak and wasted and sits in the mouth with fasciculations.
Drooling – as saliva collects in the mouth and the patient is unable to swallow (dysphagia).
Absent palatal movements.
Dysphonia – a rasping tone due to vocal cord paralysis; a nasal tone if bilateral palatal paralysis.
Articulation – difficulty pronouncing r; unable to pronounce consonants as dysarthria progresses.
If the pathology progresses then speech becomes slurred and eventually becomes indistinct. There may also be neurological deficits in the limbs – eg, flaccid tone, weakness with fasciculations.
What are the pathogenic causes of bulbar palsy?
The causes of this are broadly divided into:
Diseases of the motor nuclei in the medulla and lower pons.
Diseases of the intramedullary nerves of the spinal cord.
Diseases of the peripheral nerves supplying the muscles.
Importantly, these lesions do not affect speech in isolation. The bulbar nerves also innervate muscles involved in swallowing and facial muscles.
What are the diseases that cause of bulbar palsy?
There is a wide range of causes. The following list is not exclusive:
Motor neurone disease – eg, progressive bulbar palsy (features of pseudobulbar palsy may also be present).
Cerebrovascular events of the brainstem.
After radiotherapy for nasopharyngeal carcinoma.
After surgery for acoustic neuroma.
What is Pseudobulbar palsy?
Pseudobulbar palsy results from disease of the corticobulbar tracts. Bilateral tract damage must occur for clinically evident disease as the muscles are bilaterally innervated.
Tongue – paralysed; no wasting initially and no fasciculations; ‘Donald Duck’ speech; unable to protrude.
Palatal movements absent.
Facial muscles – may also be paralysed.
Reflexes – exaggerated (eg, jaw jerk).
Nasal regurgitation may be present.
Emotional lability may also be present.
There may also be neurological deficits in the limb – eg, increased tone, enhanced reflexes and weakness.
What is the Aetiology of Pseudobulbar palsy?
Cerebrovascular events – eg, bilateral internal capsule infarcts.
Demyelinating disorders – eg, multiple sclerosis.
Motor neurone disease.
High brainstem tumours.
In which disease there are both bulbar and pseudobulbar palsies.?
In motor neurone disease it is common to see both bulbar and pseudobulbar palsies.
What is Angioscotoma?
Angioscotomata are shadow images of the superficial retinal vessels on the
underlying retina, a physiological scotoma.
What is Angor Animi?
Angor animi is the sense of dying or the feeling of impending death. It may be
experienced on awakening from sleep or as a somesthetic aura of migraine.
What is Anhidrosis?
Anhidrosis, or hypohidrosis, is a loss or lack of sweating.
This may be due to primary autonomic failure or due to pathology within the posterior hypothalamus (‘sympathetic area’).
What is the cause of Anhidrosis?
Anhidrosis may occur in various neurological disorders, including multiple
system atrophy, Parkinson’s disease, multiple sclerosis, caudal to a spinal cord
lesion, and in some hereditary sensory and autonomic neuropathies. Localized
or generalized anhidrosis may be seen in Holmes–Adie syndrome, and unilateral
anhidrosis may be seen in Horner’s syndrome if the symptomatic lesion is distal
to the superior cervical ganglion.
What is Horner’s syndrome?
Symptoms of Horner syndrome include a drooping upper eyelid (ptosis) and a constricted pupil (miosis). In some people, the constricted pupil interferes with being able to see in the dark.
What are the causes of Horner’s syndrome?
Horner syndrome usually is caused by some kind of damage to a string of nerves that help control your eyes, heart rate, sweat, and blood pressure. Many things can affect the flow of signals through them: Neck or shoulder injuries during delivery can cause Horner syndrome in some babies, but it’s very rare.
What is Adie syndrome?
Adie syndrome, also known as Holmes-Adie syndrome, is a neurological disorder characterized by a tonically dilated pupil that reacts slowly to light but shows a more definite response to accommodation (i.e., light-near dissociation). It is frequently seen in females with absent knee or ankle jerks and impaired sweating.
What is Hyperhidrosis?
Hyperhidrosis is a condition characterized by abnormally increased sweating, in excess of that required for regulation of body temperature. Although primarily a physical burden, hyperhidrosis can deteriorate quality of life from a psychological, emotional, and social perspective.
What is Anismus?
Anismus, also known as puborectalis syndrome, is paradoxical contraction of the
external anal sphincter during attempted defaecation, leading to faecal retention
and a complaint of constipation. This may occur as an idiopathic condition in
isolation or as a feature of the off periods of idiopathic Parkinson’s disease. It
is thought to represent a focal dystonia and may be helped temporarily by local
injections of botulinum toxin.
What is Anisocoria?
Anisocoria is an inequality of pupil size.
What are the causes of Anisocoria?
This may be physiological (said to occur
in up to 15% of the population), in which case the inequality is usually mild and
does not vary with degree of ambient illumination; or pathological, with many
Ocular infection, trauma, inflammation, surgery.
Anisocoria greater in dim light or darkness suggests a sympathetic innervation defect (darkness stimulates dilatation of normal
pupil). Affected pupil is constricted (miosis; oculosympathetic paresis),
Argyll Robertson pupil;
Oculomotor (III) nerve palsy (efferent path from Edinger–Westphal nucleus);
Mydriatic agents (phenylephrine, tropicamide);
Anticholinergic agents (e.g. asthma inhaler accidentally puffed into one eye).
What is Annular Scotoma?
An annular or ring scotoma suggests retinal disease, as in retinitis pigmentosa or cancer-associated retinopathy (paraneoplastic retinal degeneration).
What is Anomia?
Anomia or dysnomia is a deficit in naming or word-finding.
What are the causes of Anomia?
Anomia may occur with any dominant hemisphere space-occupying lesion, and as a feature of
semantic dementia, being more prominent in this condition than in Alzheimer’s
What does circumlocution mean?
Definition of circumlocution. It is the use of an unnecessarily large number of words to express an idea had no patience with diplomatic circumlocutions.
What is literal paraphasia?
It is a disturbance in the natural flow of speech where elements are replaced with other components making the speech difficult to understand.
What is Anosmia?
Anosmia is the inability to perceive smells due to damage to the olfactory pathways (olfactory neuroepithelium, olfactory nerves, rhinencephalon).
What is the cause of Anosmia?
Unilateral anosmia may be due to pressure
on the olfactory bulb or tract, e.g. due to a subfrontal meningioma.
Anosmia may be congenital (e.g. Kallman’s syndrome, hypogonadotrophic
hypogonadism, a disorder of neuronal migration) or, much more commonly,
Rhinological disease (allergic rhinitis, coryza) is by far the most common cause; this may also account for the impaired sense of smell in smokers.
Head trauma is the most common neurological cause, due to shearing off of the
olfactory fibres as they pass through the cribriform plate. Recovery is possible
in this situation due to the capacity for neuronal and axonal regeneration within
the olfactory pathways.
Olfactory dysfunction is also described in Alzheimer’s disease and Parkinson’s disease and covid possibly as an early phenomenon, due to pathological involvement of olfactory pathways. Patients with depression may also complain of impaired sense of smell.
Loss of olfactory acuity may be a feature of normal ageing.