What is Unterberger’s Sign?
Unterberger’s sign or Unterberger’s stepping test is said to examine the integrity
of vestibulospinal connections and attempts to define the side of a vestibular
lesion. The patient is asked to march on the spot with the eyes closed (i.e. proprioceptive and visual cues are removed); the patient will rotate to the side of
a unilateral vestibular lesion (Unterberger’s sign). The test is not very useful,
particularly in chronic, progressive, or partially compensated vestibular lesions.
What does upbeat nystagmus mean?
Up beating nystagmus describes an eye condition in which the eyes drift downward and make upward corrective movements (beats). Here we are mainly discussing up beating nystagmus that occurs in persons who are sitting upright, and that have their eyes in the center (primary position). Strong up beating nystagmus is usually caused by brainstem damage.
What is Upper Motor Neurone (UMN) Syndrome?
An upper motor neurone (UMN) syndrome constitutes a constellation of motor
signs resulting from damage to upper motor neurone pathways, i.e. proximal
to the anterior horn cell. These may be termed ‘pyramidal signs’, but since
there are several descending motor pathways (e.g. corticospinal, reticulospinal,
vestibulospinal), of which the pyramidal or corticospinal pathway is just one,
‘upper motor neurone syndrome’ is preferable. ‘Long tract signs’ may be a more
accurate term, often used interchangeably with ‘pyramidal signs’. The syndrome
may be variable in its clinical features but common elements, following the
standard order of neurological examination of the motor system, include the
following:
• Appearance:
Usually normal, but there may be wasting in chronic UMN syndromes,
but this is usually not as evident as in lower motor neurone syndromes;
contractures may be evident in chronically spastic limbs.
• Tone:
Hypertonus, with spasticity, clasp-knife phenomenon and sustained
clonus.
• Power:
Weakness, often in a so-called pyramidal distribution (i.e. affecting
extensors more than flexors in the upper limb, and flexors more
than extensors in the lower limb); despite its clinical utility, the term
pyramidal is, however, a misnomer (see Weakness).
• Coordination:
Depending on the degree of weakness, it may not be possible to
comment on the integrity of coordination in UMN syndromes; in a
pure UMN syndrome coordination will be normal, but syndromes
with both ataxia and UMN features do occur (e.g. spinocerebellar
syndromes, ataxic hemiparesis syndromes).
• Reflexes:
Limb hyperreflexia, sometimes with additional reflexes indicative of
corticospinal tract involvement (Hoffmann’s sign, Trömner’s sign,
crossed adductor reflex); Babinski’s sign (extensor plantar response);
and cutaneous reflexes (abdominal, cremasteric) are lost.
The most reliable (‘hardest’) signs of UMN syndrome are increased tone,
clonus, and upgoing plantar responses. The most subtle (i.e. earliest) sign of
UMN involvement is debated but may be pronator drift or impaired forearm
and finger rolling.
The clinical phenomena comprising the upper motor neurone syndrome
may be classified as ‘positive’ and ‘negative’ depending on whether they reflect
increased or decreased activity in neural pathways:
• Positive:
Exaggerated stretch/tendon reflexes, flexor spasms;
Clonus;
Autonomic hyperreflexia;
Contractures.
• Negative:
Muscle weakness, pronator drift;
Loss of dexterity.
These features help to differentiate UMN from LMN syndromes, although
clinically the distinction is not always easy to make: a ‘pyramidal’ pattern of
weakness may occur in LMN syndromes (e.g. Guillain–Barré syndrome) and
acute UMN syndromes may cause flaccidity and areflexia (e.g. ‘spinal shock’).
What is forearm rolling test?
The forearm rolling test is one of the subtle signs of hemiparesis. The patient holds the forearms horizontally with the fists and distal forearms overlapping, then rotates the fists around each other, first in one direction and then the other Normally, the fists and forearms roll about each other symmetrically with an equal excursion. Finger rolling is a variant in which the patient rotates just the index fingers.
What are the Hoffman and Tromner signs?
The Hoffman and Tromner signs are most commonly clinically used corticospinal tract signs of upper extremities similar to the Babinski reflex in the lower extremity. Although, these reflexes can be elicited in normal subjects but importantly indicate a pyramidal tract lesion, especially if asymmetric and accompanied by other pathological reflexes.
What is pronator drift?
In medicine, pronator drift (also known as pyramidal drift) refers to a pathologic sign seen during a neurological examination. Jean Alexandre Barré is credited with having first described it; thus, it is sometimes known as the Barré test or sign. A positive result indicates spasticity. This sign can appear due to an upper motor neuron lesion or various other conditions (including inborn errors of metabolism) which include spasticity as a symptom. Assessing for pronator drift helps to detect mild upper limb weakness in a patient who’s awake and able to follow directions. Ask the patient to close the eyes, then to stretch out both arms in the appropriate position: extend the arms 90 degrees (if sitting) or 45 degrees (if supine). The palms should be facing up (supinated). The patient should maintain this position for 20 to 30 seconds. Observe both arms. If the motor pathway is intact, the arms should remain in this position equally. Patients with a slight weakness in one arm won’t be able to keep the affected arm raised, and ultimately the palm may begin to pronate (palm facing down). Pronator drift indicates abnormal function of the corticospinal tract in the contralateral hemisphere. In some patients, the arm may remain supinated but drop lower than the unaffected arm, and the fingers and elbow might flex.
The patient is asked to hold both arms fully extended at shoulder level in front of them, with the palms upwards, and hold the position. If they are unable to maintain the position the result is positive. Closing the eyes accentuates the effect, because the brain is deprived of visual information about the position of the body and must rely on proprioception. Tapping on the palm of the outstretched hands can accentuate the effect.
What is drift without pronation?
Drift without pronation. The patient is asked to lift both arms in the air with forearms supinated and eyes closed to test for pronator drift. In functional arm weakness there may be downward drift but without pronation movement during the drift, as seen in patients with pyramidal lesions
What is Urinary Retention in neurology?
Although urinary retention is often urological in origin (e.g. prostatic hypertrophy) or a side effect of drugs (e.g. anticholinergics), it may have neurological
causes. It may be a sign of acute spinal cord compression, with or without other
signs in the lower limbs, or of acute cauda equina compression, for example,
with a central L1 disc herniation. Sometimes the level of the pathology is several
segments above that expected on the basis of the (‘false localizing’) neurological
signs. Loss of awareness of bladder fullness may lead to retention of urine with
overflow.
A syndrome of urinary retention in young women has been described,
associated with myotonic-like activity on sphincter EMG; this condition may
be associated with polycystic ovary disease and is best treated with clean
intermittent self-catheterization.
What is Urinary incontinence (UI)?
Urinary incontinence (UI), also known as involuntary urination, is any uncontrolled leakage of urine. It is a common and distressing problem, which may have a large impact on quality of life. It has been identified as an important issue in geriatric health care.[2] The term enuresis is often used to refer to urinary incontinence primarily in children, such as nocturnal enuresis (bed wetting).
What are the causes of Urinary incontinence (UI)?
Pelvic surgery, pregnancy, childbirth, and menopause are major risk factors. Urinary incontinence is often a result of an underlying medical condition but is under-reported to medical practitioners.
What are the types of Urinary incontinence (UI)?
There are four main types of incontinence:
Urge incontinence due to an overactive bladder
Stress incontinence due to poor closure of the bladder
Overflow incontinence due to either poor bladder contraction or blockage of the urethra
Mixed incontinence involves features of different other types.
What is the treatment of Urinary incontinence (UI)?
Treatments include pelvic floor muscle training, bladder training, surgery, and electrical stimulation. Behavioural therapy generally works better than medication for stress and urge incontinence. The benefit of medications is small and long-term safety is unclear. Urinary incontinence is more common in older women.
What is the definition of proprioception?
Proprioception, also referred to as kinaesthesia (or kinaesthesia, in American English), is the sense of self-movement and body position.
What is Useless Hand of Oppenheim?
The deafferented hand or arm is functionally useless and manifests involuntary
movements due to severe proprioceptive loss. This was first described in multiple
sclerosis by Oppenheim in 1911 and reflects plaques in the dorsal root entry zone
of the relevant spinal cord segment(s).
What is Utilization Behaviour?
Utilization behaviour is a disturbed response to external stimuli, a component of
the environmental dependency syndrome, in which seeing an object implies that
it should be used. Two forms of utilization behaviour are described:
• Induced:
When an item is given to the patient or their attention is directed to it, e.g.
handing them a pair of spectacles which they put on, followed by a second
pair, which are put on over the first pair.
• Incidental or spontaneous:
When the patient uses an object in their environment without their attention being specifically directed towards it.
Another element of the environmental dependency syndrome which coexists with utilization behaviour is imitation behaviour (e.g. echolalia, echopraxia).
Primitive reflexes and hyper metamorphosis may also be observed.
Utilization behaviour is associated with lesions of the frontal lobe, affecting the inferior medial area bilaterally. It has also been reported following paramedian thalamic infarction.
What is automatic writing?
Automatic writing, in spiritualism, writing produced involuntarily when the subject’s attention is ostensibly directed elsewhere. The phenomenon may occur when the subject is in an alert waking state or in a hypnotic trance, usually during a séance.
What is Orthostatic hypotension?
It, also known as postural hypotension, is a medical condition wherein a person’s blood pressure drops when standing up or sitting down. The drop in blood pressure may be sudden (vasovagal orthostatic hypotension), within 3 minutes (classic orthostatic hypotension) or gradual (delayed orthostatic hypotension). It is defined as a fall in systolic blood pressure of at least 20 mm Hg or diastolic blood pressure of at least 10 mm Hg when a person assumes a standing position
What is Valsalva Manoeuvre?
The Valsalva manoeuvre is a simple test of autonomically mediated cardiovascular reflexes, comprising forced expiration against resistance (‘straining’), followed
by release of the resistance and completion of expiration. The first phase produces impaired cardiac filling due to impaired venous return as a consequence of
elevated intrathoracic pressure, with a fall in cardiac output and blood pressure,
inducing peripheral vasoconstriction (sympathetic pathways) to maintain blood
pressure. The second phase causes a transient overshoot in blood pressure as the
restored cardiac output is ejected into a constricted circulation, followed by reflex
slowing of heart rate.
In autonomic (sympathetic) dysfunction, reflex vasoconstriction, blood pressure overshoot, and bradycardia do not occur. The latter may be conveniently
assessed by measuring R–R intervals in a prolonged ECG recording, an R–R
interval ratio between the straining and release phases of less than 1.1 suggesting
impaired baroreceptor response.
What is Vegetative States?
The vegetative state is a clinical syndrome in which cognitive function is lost, due
to neocortical damage (hence no awareness, response, speech), whilst vegetative
(autonomic, respiratory) function is preserved due to intact brainstem centres.
Primitive postural and reflex limb movements may also be observed. The syndrome, also known as neocortical death, coma vigil, and the apallic syndrome,
may be seen after extensive ischaemic–hypoxic brain injury, for example, following resuscitation after cardiac arrest, and needs to be distinguished from coma,
akinetic mutism, and the locked-in syndrome. Persistent vegetative state (PVS) is
defined by persistence of this state for > 12 months (UK) or > 6 months (USA)
after brain trauma, or > 6 months (UK) or > 3 months (USA) following brain
anoxia. The prognosis of PVS is poor, but occasional reports of very late recovery
have appeared.
What is the definition of jugular foramen syndrome?
Jugular foramen syndrome, or Vernet’s syndrome, is characterized by paresis of the glossopharyngeal, vagal, and accessory (with or without the hypoglossal) nerves. Symptoms of this syndrome are consequences of this paresis.
What is another name for jugular foramen syndrome?
Vernet syndrome. Vernet syndrome (also known as the jugular foramen syndrome) is a constellation of cranial nerve palsies due to compression from a jugular foramen lesion such as a glomus jugulare tumor or schwannoma.
What is Vertigo?
Vertigo is an illusion of movement, a sense of rotation or of tilt, causing a
feeling of imbalance or disequilibrium. It is a subtype of ‘dizziness’, to be distinguished from the light-headedness of general medical conditions (vasovagal
attacks, presyncope, cardiac dysrhythmias). Vertigo is often triggered by head
movement and there may be associated autonomic features (sweating, pallor,
nausea, vomiting). Vertigo may be horizontal, vertical, or rotatory.
Pathophysiologically, vertigo reflects an asymmetry of signalling anywhere
in the central or peripheral vestibular pathways. Clinically, it may be possible to draw a distinction between central and peripheral lesions: in the latter
there may be concurrent hearing loss and tinnitus (reflecting vestibulocochlear
(VIII) nerve involvement). Facial weakness (VII) and ipsilateral ataxia suggest
a cerebellopontine angle lesion; diplopia, bulbar dysfunction, and long tract
signs are suggestive of a central pathology. Peripheral vertigo tends to compensate rapidly and completely with disappearance of nystagmus after a few days,
whereas central lesions compensate slowly and nystagmus persists.
What are causes of Vertigo?
The clinical pattern of vertigo may give clues as to underlying diagnosis:
Vertigo Peripheral Central
Acute Labyrinthitis
Prolonged,
spontaneous
Otomastoiditis
Vestibular neur(on)itis
Labyrinthine concussion
Isolated labyrinthine infarct
Vestibular nerve section
Drug-induced
Brainstem/cerebellum
haemorrhage/infarct/
demyelination
Recurrent,
episodic
Migraine
Menière’s disease
(endolymphatic hydrops)
Autoimmune inner ear disease
(isolated, systemic)
Perilymph fistula
Epilepsy (rare)
Vertebrobasilar ischaemia
(with associated features)
Positional Benign paroxysmal positional vertigo
(BPPV)
Fourth ventricle lesions:
multiple sclerosis, Chiari
malformation,
brainstem/cerebellar
tumours
Spinocerebellar atrophy
Chronic Vestibular decompensation/failure Neurological disorder
Psychogenic
All patients with vertigo should have a Hallpike manoeuvre performed
during the examination.
What is treatment of Vertigo?
Specific treatments are available for certain of these conditions. A brief
course of a vestibular sedative (cinnarizine, Serc) is appropriate in the acute
phase, but exercises to ‘rehabilitate’ the semicircular canals should be begun
as soon as possible in peripheral causes. In BPPV, most patients respond
to the Epley manoeuvre to reposition the otoconia which are thought to
cause the condition (canalolithiasis). Brandt–Daroff exercises are an alternative. Cawthorne–Cooksey exercises are helpful in vestibular decompensation or failure.
What is Hennebert sign?
The Hennebert sign describes a positive fistula test without clinical evidence of middle ear or mastoid disease. It is associated with congenital syphilis and may also be present in Ménière disease.
What is a caloric stimulation test?
Caloric stimulation is a test that uses differences in temperature to diagnose damage to the acoustic nerve. This is the nerve that is involved in hearing and balance. The test also checks for damage to the brain stem. This test stimulates your acoustic nerve by delivering cold or warm water or air into your ear canal.
What is uses of a caloric test?
Calorics are usually a subtest of the electronystagmography (ENG) battery of tests. It is one of several tests which can be used to test for brain stem death. One novel use of this test has been to provide temporary pain relief from phantom limb pains in amputees and paraplegics. It can also induce a temporary remission of anosognosia.
What is Personification of Paralyzed Limbs?
Critchley drew attention to the tendency observed in some hemiplegic patients to give their paralyzed limbs a name or nickname and to invest them with a personality or identity of their own. This sometimes follows a period of anosognosia and may coexist with a degree of anosodiaphoria; it is much more commonly seen with left hemiplegia. A similar phenomenon may occur with amputated limbs, and it has been reported in a functional limb weakness.
What is the definition of anosognosia?
Anosognosia is a deficit of self-awareness, a condition in which a person with a disability is unaware of its existence. It was first named by the neurologist Joseph Babinski in 1914. Anosognosia results from physiological damage to brain structures, typically to the parietal lobe or a diffuse lesion on the fronto-temporal-parietal area in the right hemisphere, and is thus a neuropsychiatric disorder..
What is Anosodiaphoria?
Anosodiaphoria is a condition in which a person who has a brain injury seems indifferent to the existence of their handicap. Anosodiaphoria is specifically used in association with indifference to paralysis. It is a somatosensory agnosia, or a sign of neglect syndrome.
What is Pes Cavus?
Pes cavus is a high-arched foot due to equinus (plantar flexion) deformity of the
first ray, with secondary changes in the other rays (i.e. deformity is more evident on the medial side of the foot in most cases). This may be due to imbalance
of muscular forces during development (e.g. strong peroneus longus, weak peroneus brevis and tibialis anterior, although the precise pattern may differ with
cause), which may be a consequence of neurological disease. Hammer toes may
also be present. Pes cavus may be associated with disease of genetic origin, e.g.
hereditary motor and sensory neuropathy (HMSN, Charcot–Marie–Tooth syndrome), hereditary spastic paraparesis, Friedreich’s ataxia, Marfan’s syndrome;
or be due to an early neurological insult, e.g. cerebral palsy, paralytic poliomyelitis. Familial pes cavus without other neurological signs has also been reported (a
forme fruste of HMSN?). Surgical treatment of pes cavus may be necessary, especially if there are secondary deformities causing pain, skin breakdown, or gait problems.
What cause Hammer, Claw and Mallet Toe to develop?
There are a number of things that can cause Hammer, Claw and Mallet Toe to develop: 1. Poor Blood Supply: conditions that affect the blood and oxygen flow to the feet e.g. peripheral vascular disease 2. Foot Biomechanics: Altered foot position e.g. bunions or flat feet 3. Injury: Previous foot injuries e.g. fracture 4. Neural Problem: problems in the central or peripheral nervous system e.g. nerve damage, brain damage or spinal cord injury.
What is Petites Madeleines’ phenomenon?
The ‘Petites Madeleines’ phenomenon in two amnesic patients: Sudden recovery of forgotten memories Federica Lucchelli.
What is “Proust phenomenon”?
The “Proust phenomenon” refers to the appearance of seemingly forgotten, emotional memories evoked by an unexpected sensation. The Proust phenomenon is sometimes also called an involuntary explicit memory. Alternatively, because the memories that are recalled are often memories about a person’s past, they can also be called involuntary autobiographical memories.
What is Phalen’s Sign?
Phalen’s sign is present when tingling (paraesthesia) is experienced in the distribution of the median nerve when the wrist is held in forced flexion (90◦ for 30–60 s; Phalen’s manoeuvre). Patients may volunteer that they experience such symptoms when carrying heavy items such as shopping bags which puts the hand in a similar posture. Hyperextension of the wrist (‘reverse Phalen’s manoeuvre’)may also reproduce symptoms. These are signs of compression of the median nerve at the wrist (carpal tunnel syndrome). Like other provocative tests (e.g. Tinel’s sign), the sensitivity and specificity of Phalen’s sign for this diagnosis are variable (10–91% and 33–86%). The pathophysiology of Phalen’s sign is probably the lower threshold of injured nerves to mechanical stimuli, as for Tinel’s sign and Lhermitte’s sign.
What is Allochiria?
It is a neurological disorder in which the patient responds to stimuli presented to one side of their body as if the stimuli had been presented at the opposite side. It is associated with spatial transpositions, usually symmetrical, of stimuli from one side of the body (or of the space) to the opposite one. Thus, a touch to the left side of the body will be reported as a touch to the right side.
What is phantom alloaesthesic sensation?
Also known as phantom alloaesthesic sensation. Both terms stem from the Greek words phantasma (ghost, spectre), allos (other), and aisthanesthai (to notice, to perceive). They are used to denote a variant of alloaesthesia (i.e. *allachaesthesia) in which the affected individual experiences a tactile sensation below the stump of an amputated limb after tactile stimulation of the contralateral, remaining limb. Or, to mention an example given by the British neurologist Macdonald Critchley (1900-1997), the experience of stereognosic phantom sensations in the affected hand when an actual object is held in the normal hand”. Phantom alloaesthesia should not be confused with allachaesthesia proper or with *spontaneous stereognosic sensations.
What is Phantom Chromatopsia?
This term has been coined to refer to the complaint of patients who are blind
or nearly so that a colour, usually golden or purple, enlarges to invade the entire
visual field. This is presumably cortical in origin and has been described as an
hallucination. ‘Phantom vision’ may describe a similar phenomenon.
What is Monochromacy?
It is (from Greek mono, meaning “one” and chromo, meaning “colour”) is the ability of organisms or machines to perceive only light intensity, without respect to spectral composition (colour). Organisms with monochromacy are called monochromats.
For example, about 1 in 30,000 people have monochromatic vision because the colour-sensitive cone cells in their eyes do not function. Affected people can distinguish light, dark, and shades of gray but not colour.
What is Charles Bonnet Syndrome?
It is impaired vision, visual pathway, neurobiology, low vision, phantom vision Charles Bonnet Syndrome, also known as “phantom vision,” is a condition where visual hallucinations occur as a result of damage along the visual pathway.
What is Phantom Limb?
Phantom limbs, or ghost limbs, are the subjective report of the awareness of
a non-existing or deafferented body part in a mentally otherwise competent
individual. The term was coined by Weir Mitchell in the nineteenth century,
but parts other than limbs (either congenitally absent or following amputation)
may be affected by phantom phenomena, such as lips, tongue, nose, eye, penis,
breast and nipple, teeth, and viscera. Phantom phenomena are perceived as real
by the patient, may be subject to a wide range of sensations (pressure, temperature, tickle, pain), and are perceived as an integral part of the self. Such
‘limbless perception’ is thought to reflect the mental representation of body parts
generated within the brain (body schema), such that perception is carried out
without somatic peripheral input. Reorganization of cortical connections following amputation may explain phantom phenomena such as representation of a
hand on the chest or face, for which there is also evidence from functional brain
imaging.
What is Phantom Vision?
This name has been given to visual hallucinations following eye enucleation,
by analogy with somaesthetic sensation experienced in a phantom limb after
amputation. Similar phenomena may occur after acute visual loss and may overlap with phantom chromatopsia. Unformed or simple hallucinations are more
common than formed or complex hallucinations.
What is Phonagnosia?
Phonagnosia is an inability to recognize familiar voices in the absence of hearing
impairment, hence a form of auditory agnosia. The patient can recognize and
understand words and sentences (cf. pure word deafness). Phonagnosia is the
equivalent in the auditory domain of prosopagnosia in the visual domain. The
neuroanatomical substrate is thought to be right parietal lobe pathology.
What is Phonemic Disintegration?
Phonemic disintegration refers to an impaired ability to organize phonemes, the
smallest units in which spoken language may be sequentially described, resulting
in substitutions, deletions, and mis orderings of phonemes. Phonemic disintegration is relatively common in aphasic disorders, including Broca’s aphasia,
conduction aphasia, and transcortical motor aphasia. Isolated phonemic disintegration is rare. The neural substrate may be primary motor cortex of the
left inferior precentral gyrus and subjacent white matter, with sparing of Broca’s
area.
What is Phonophobia?
Phonophobia is a dislike, or fear, of sounds, especially loud sounds, often
experienced during a migraine headache.
What is Phosphene?
Phosphenes are percepts in one modality induced by an inappropriate stimulus, e.g. when pressure is applied to the eyeball, the mechanical stimulus may induce the perception of light. The perception of flashes of light when the eyes are moved has been reported in optic neuritis, presumably reflecting the increased mechanosensitivity of the demyelinated optic nerve fibres; this is suggested to be the visual equivalent of Lhermitte’s sign. Eye gouging to produce phosphenes by mechanical stimulation of the retina is reported in Leber’s congenital amaurosis.
Noise-induced visual phosphenes have also been reported and may be equivalent
to auditory-visual synaesthesia.
What is Photism?
Photisms are transient positive visual phenomenon, such as geometrical shapes
or brightly coloured spectral phenomena, occurring in the context of epilepsy,
migraine, or in blind visual fields (hence overlapping with photopsia). Auditory visual synaesthesia may also be described as sound-induced photism.
What is Photophobia?
Photophobia is an abnormal intolerance of light, often experienced with eye
pain. It is associated with a wide range of causes and may result from both
peripheral and central mechanisms:
• Anterior segment eye disorders: uveitis, glaucoma, cataract;
• Vitreo-retinal disorders: retinitis pigmentosa;
• Optic neuropathies: optic neuritis;
• Intracranial disease: migraine, meningitis, and other causes of meningeal
irritation, central photophobia (?thalamic lesion), dazzle;
• Physiological photophobia: sudden exposure to light after light deprivation.
What is Photopsia?
Photopsias are simple visual hallucinations consisting of flashes of light which
often occur with a visual field defect. They suggest dysfunction in the inferomedial occipital lobe, such as migraine or an epileptogenic lesion.
What is Physical Duality?
A rare somaesthetic metamorphopsia occurring as a migraine aura in which
individuals feel as though they have two bodies.
What is Metamorphopsia?
It is a type of distorted vision in which a grid of straight lines appears wavy and parts of the grid may appear blank. People can first notice they suffer with the condition when looking at mini-blinds in their home.
It is mainly associated with macular degeneration, particularly age-related macular degeneration with choroidal neovascularization. Other conditions that can present with complaints of metamorphopsia.
What is athetosis?
Athetosis is a symptom characterized by slow, involuntary, convoluted, writhing movements of the fingers, hands, toes, and feet and in some cases, arms, legs, neck and tongue. [1] Movements typical of athetosis are sometimes called athetoid movements.
What is Pseudoathetosis?
It is abnormal writhing movements, usually of the fingers, caused by a failure of joint position sense (proprioception) and indicates disruption of the proprioceptive pathway, from nerve to parietal cortex.
What is Pica?
Pica, or pagophagia, is a morbid craving for unusual or unsuitable food in
association with iron deficiency. It has also been reported in tuberous sclerosis.
Sufferers risk infection from contaminated foods.
What is Picture Sign?
The ‘picture sign’ is present when a patient believes that individuals seen on the
television screen are actually present in the home; indeed, they may be reported
to emerge from the television set into the room. This may occur as part of the
cognitive disturbance of Alzheimer’s disease or dementia with Lewy bodies, or
as part of a psychotic disorder. Like the ‘mirror sign’, the ‘picture sign’ may be
classified as a misidentification phenomenon.
What is ‘Picture Within a Picture’ Sign?
Following a right parieto-occipital infarction, a patient complained of seeing
people moving about in the left lower quadrant of the visual field whilst vision
was normal in the remainder of the visual field, a phenomenon labelled the
‘picture within a picture’ sign. This has been categorized as a visual release
hallucination.
What is mirrored self-misidentification sign?
Mirrored-self misidentification is the belief that one’s reflection in a mirror is some other person. Reduplicative paramnesia is the belief that a familiar person, place, object, or body part has been duplicated.
What are the causes of mirror delusional misidentification syndromes?
Prevalence. Delusional misidentification syndromes (DMS) can occur in patients with a wide variety of cranial dysfunctions. Mirrored-self misidentification, a type of DMS, occurs most typically in patients with dementia, especially Alzheimer’s disease. Approximately 2% to 10% of all patients with Alzheimer’s disease have mirrored-self…
What is the neurological basis of mirror self-misidentification?
Neurological basis. All patients with mirrored-self misidentification have some type of right hemisphere dysfunction. The right hemisphere, particularly frontal right hemisphere circuits, is involved in processing self-related stimuli and helps one recognize a picture or reflection of oneself.
What is claw foot?
The so-called “Greek” foot is defined by a 2nd toe that may deform into a claw because it is longer than the big toe Several different shapes exist; claw toe, hammer, or swan collar. “The partridge eye” is a conflict occurring between the toes themselves, often between the 4th and 5th. There are three evolutionary stages; the reductible claw at the beginning will be removed to become fixed, and eventually evolves.
What is ‘Pie-in-the-Sky’ Defect?
This name has sometimes been given to the superior homonymous quadrantanopia ending sharply at the vertical midline due to a temporal lobe lesion
interrupting Meyer’s loop, that part of the optic radiation coursing through the
temporal lobe.
What is Pinch Sign?
The ‘pinch sign’, or ‘okay sign’, is an inability to make a small circle (‘form the
letter O’, divers’ okay sign) by approximating the distal phalanges of the thumb
and index finger, due to weakness of flexor digitorum profundus in the index finger and flexor pollicis longus in the thumb as a consequence of median nerve
lesions in the forearm, e.g. anterior interosseous neuropathy, pronator teres syndrome. This results in a pinching posture of thumb and index finger. The ‘straight
thumb sign’ may also be present.
What is Pinhole Test?
Impairments in visual acuity due to refraction defects (changes in shape of the
globe or defects in the transparent media of the eye) may be improved or corrected by looking through a pinhole which restricts vision to the central beam of light.
What is Plantar Response?
The plantar response is most commonly elicited by stroking the sole of the foot
with a blunt object. The first response of the hallux is the critical observation,
which may be facilitated by having ones line of vision directly above the axis
of the toe. The normal response after maturation of the corticospinal tracts
(i.e. after about 3 years of age) is for the big toe to flex. An extensor response
of the big toe in an adult (Babinski’s sign), with or without fanning (abduction) of the other toes (fan sign, signe de l’éventail), is a reliable sign of upper
motor neurone pathology. Use of the term ‘negative Babinski’s sign’ or ‘negative
Babinski response’ to mean ‘flexor plantar response’ is incorrect and should not
be used. This normal plantar response is a superficial cutaneous reflex, analogous to abdominal and cremasteric reflexes, whereas the pathological response
is often accompanied by activity in other flexor muscles. In some individuals
the toes do not move at all, in which case the response is labelled as ‘mute’ or
absent. Assessment of the response may be confounded by withdrawal of the foot
in ticklish individuals. Differentiation from the striatal toe seen in parkinsonian
syndromes is also important.
The plantar response may be elicited in a variety of other ways which are not
in routine clinical use. Of these, perhaps the most frequently used are Chaddock’s
sign (application of a stimulus in a circular direction around the external malleolus or the lateral aspect of the foot from heel to little toe) and Oppenheim’s sign
(application of heavy pressure to the anterior surface of the tibia from patella to
ankle). These may be helpful in ticklish patients who object to having their feet
stroked. If the plantar response thus elicited is upgoing, this suggests a spread
of the ‘receptive field’ of the reflex. Babinski’s sign is the earliest to occur in the
presence of upper motor neurone pathology.
It is often difficult to form a definite judgment on the plantar response and
reproducibility is also questionable. A study of 24 experienced clinicians invited
to examine plantar responses ‘blind’ found that the interobserver percentage
agreement beyond chance was on average only 16.7% (95% confidence interval
[CI] 0.4–33%); intra observer percentage agreement was a little better (average
59.6%; CI 39.6–79.6%). There remains a persistent belief, particularly amongst
trainees, that an experienced neurologist can make the plantar response go which
ever way s/he chooses.
What is Plegia?
Plegia means stillness, implying a complete weakness (or paralysis in common parlance), as in monoplegia, diplegia, ophthalmoplegia, paraplegia,
quadriplegia, and cardioplegia. Hence plegia is a more severe weakness than
paresis.
What is Pleurothotonus?
Pleurothotonus, or Pisa syndrome, is a truncal dystonia characterized by involuntary side flexion of the head and neck, which may occur as an adverse effect of neuroleptics, antiemetics, valproate, atypical antipsychotics, and cholinesterase inhibitors.
What is Plexopathy?
Lesions confined to the brachial, lumbar, or sacral plexi may produce a constellation of motor and sensory signs (weakness, reflex diminution or loss, sensory loss)
which cannot be ascribed to single or multiple roots (radiculopathy) or peripheral nerves (neuropathy). Lesions may involve the whole plexus (panplexopathy):
• Brachial: C5–T1
• Lumbar: L2–L4
• Sacral: L5–S3
or be partial, e.g. upper trunk of brachial plexus (C5–C6), producing ‘waiter’s
tip’ posture (as for C5/C6 root avulsion); lower trunk of brachial plexus (C8–T1;
as for C8/T1 root avulsion).
Neurophysiological studies may be helpful in distinguishing plexopathy from
radiculopathy: sensory nerve action potentials (SNAPs) are reduced or absent
in plexopathies because the lesion is located distal to the dorsal root ganglion
(DRG), whereas SNAPs are normal in radiculopathies because the lesion is proximal to the DRG. EMG shows sparing of paraspinal muscles in a plexopathy
because the lesion is, by definition, distal to the origin of the dorsal primary rami
(cf. radiculopathy). Coexistence of radiculopathy and plexopathy may invalidate
these simple rules.
What are the causes of plexopathy?
• Recognized causes of brachial plexopathy include
Trauma: Upper plexus: Dejerine–Klumpke paralysis (‘waiter’s tip’
posture)
Lower plexus: Erb–Duchenne paralysis (claw hand)
Inflammation/idiopathic: brachial neuritis, neuralgic amyotrophy
Malignant infiltration, e.g. carcinoma of lung (Pancoast), breast, +/−
Horner’s syndrome; pain a significant symptom
Postradiation (e.g. after radiotherapy for malignant breast cancer with
axillary spread; myokymic discharges may be seen on EMG)
Tomaculous neuropathy
Hereditary neuropathy with liability to pressure palsies (HNLPP)
Neurogenic thoracic outlet syndrome (rare): cervical rib or C7 transverse process or fibrous band compressing the lower trunk; may be
surgically remediable
• Recognized causes of lumbosacral plexopathy include
Compression; e.g. iliopsoas haematoma (anticoagulation, haemophilia), abscess (tuberculosis); abdominal aortic aneurysm; pregnancy
(foetal head in the second stage of labour)
Neoplasia (direct spread > metastasis)
Trauma (rare; cf. brachial plexopathy)
Postradiation
Vasculitis (mononeuritis multiplex much commoner)
Idiopathic
Imaging with MRI is superior to CT for defining structural causes of
plexopathy.
What is Thickened nerves?
Thickened nerves is a physical sign that can occur in few diseases. Leprosy is by far most common cause of thickened nerves. Therefore, most of the clinical examination of thickened nerves is also based on experience with leprosy.
What is the cause of nerve thickening in IST?
Cause of nerve thickening in is thought to be the summation of onion bulb formation around individual dysmyelinated nerve fibres. Refsum Disease. Refsum disease is one of a family of genetic disorders known as the leukodystrophies in which, as a consequence of the disruption of lipid metabolism leading to accumulation of phytanic acid.
What is Amyotrophy?
It is progressive wasting of muscle tissues. Muscle pain is also a symptom. It can occur in middle-aged males with type 2 diabetes. It also occurs with motor neuron disease.
What is Infantile polymyoclonus?
It is a rare disorder characterized by involuntary muscle jerking and rapid eye movements. The condition is not progressive and symptoms go through periods of improvement and deterioration.
What is Generalized polymyoclonus?
It may resemble tremor but is distinguished by the absence of true periodicity, which can be confirmed using surface electromyography (EMG). Although this resemblance may occur in the context of a toxic-metabolic encephalopathy or a neurodegenerative condition, the accompanying clinical features of these disorders facilitate recognition.
What is Polyopia?
Polyopia, or polyopsia, or multiplication of images, is a visual illusory phenomenon in which a single target is seen as multiple images, most usually double
but sometimes higher multiples (e.g. entomopia), persisting when looking away
from the object. This may be likened to ‘echoes’ of the image, and eye movement
may produce a trailing effect. Polyopia may be related to palinopsia.
Polyopia may occur as part of the visual aura of migraine and has also been
associated with occipital and occipito-parietal lesions, bilateral or confined to
the non-dominant hemisphere, and with drug abuse. It has also been described
in disease of the retina and optic nerve and occasionally in normal individuals.
The pathophysiology is unknown; suggestions include a defect of visual
fixation or of visual integration; the latter may reflect pure occipital cortical
dysfunction.
What is Entomopia?
It is a form of polyopia in which a grid-like pattern of multiple copies of the same visual image is seen.
Entomopia may be due to disease of the occipital lobe, defects in visual integration and fixation or incomplete visual processing due to poor visuospatial localisation in the hemianopic field, although its causes are unknown. Reassurance may be the only treatment.
What is Popeye Arms?
In facioscapulohumeral (FSH) muscular dystrophy, the deltoid muscle is normally well preserved, whilst biceps and triceps are weak and wasted, giving rise to an appearance of the upper limbs sometimes labelled as ‘Popeye arms’ or ‘chicken wings’.
What is Poriomania?
A name sometimes given to prolonged wandering as an epileptic automatism, or
a fugue state of non-convulsive status epilepticus.
What is Porropsia?
Porropsia, or teliopsia, is a form of metamorphopsia characterized by the misperception of objects as farther away from the observer than they really are (cf.
pelopsia).
What is Post-tetanic Potentiation?
Post-tetanic potentiation (PTP) is a form of synaptic plasticity which is short-lived and results in increased frequency of miniature excitatory postsynaptic potentials (mEPSPs) or currents (EPSCs) with no effect on amplitude in the spontaneous postsynaptic potential. It usually lasts in the range of several minutes (shorter potentiations are usually referred to as ‘augmentations’). PTPs are observed when synapses are stimulated with repetitive (tetanic) pulses, by means of prolonged trains of stimuli applied at high frequencies (10 Hz to 200 Hz stimuli applied for.2 seconds to 5 seconds). It can cause Interaction between two or more drugs or agents resulting in a pharmacologic response greater than the sum of individual responses to each drug or agent.
What are the symptoms of Horner s syndrome?
Symptoms of Horner’s syndrome typically include drooping of the upper eyelid (ptosis), constriction of the pupil (miosis), sinking of the eyeball into the face, and decreased sweating on the affected side of the face (anhidrosis).
What is Postural Reflexes?
Postures such as standing are largely reflex in origin, dependent upon involuntary muscle contraction in antigravity muscles. Interference with such reflex
activity impairs normal standing. Postural and righting reflexes depend not
only on the integration of labyrinthine, proprioceptive, exteroceptive, and visual
stimuli, mostly in the brainstem but also involve the cerebral cortex. However,
abnormalities in these reflexes are of relatively little diagnostic value except in
infants.
One exception is extrapyramidal disease (parkinsonism, Huntington’s disease, but not idiopathic dystonia) in which impairment or loss of postural reflexes
may be observed. In the ‘pull test’ the examiner stands behind the patient, who
is standing comfortably, and pulls briskly on the shoulders; if balance is normal,
the patient takes a step back; with impaired postural reflexes, this may provoke
repetitive steps backwards (retropulsion, festination) or even en bloc falling, due
to the failure of reflex muscle contraction necessary to maintain equilibrium.
Pushing the patient forward may likewise provoke propulsion or festination, but
this manoeuvre is less safe since the examiner will not be placed to catch the
patient should they begin to topple over.
What is Pourfour du Petit Syndrome?
Pourfour du Petit syndrome is characterized by mydriasis, widening of the
palpebral fissure, exophthalmos, hyperhidrosis (i.e. inverse Horner’s syndrome,
sympathetic overactivity), flushing, and increased intraocular pressure due to
irritation of the sympathetic chain in the neck.
What is Pouting, Pout Reflex?
The pout reflex consists of a pouting movement of the lips elicited by lightly
tapping orbicularis oris with a finger or tendon hammer, or by tapping a spatula
placed over the lips. This myotactic stretch reflex is indicative of a bilateral upper
motor neurone lesion, which may be due to cerebrovascular small vessel disease,
motor neurone disease or multiple sclerosis. It differs from the snout reflex, which
refers to the reflex elicited by constant pressure on the philtrum. Hence the pout
reflex is a phasic, the snout a tonic, response.
What is Palmar grasp?
The grasping reflex are primitive reflexes, that we already spoke about is one of the first reflexes that you’ll notice. See how your baby’s fingers close around your pinky? The palmar grasp reflex (that’s what your doc calls it) disappears at around 5 to 6 months of age. The grasp is so strong that they will hang onto something even as you pull it gently away!
Lay your baby on a safe, flat surface (like their crib mattress), offer both your pinkies for your baby to grasp, and slowly lift them up a couple of inches. Because this reflex is involuntary, your baby won’t let go at will. (But watch out, because when they get tired, they’ll suddenly let go and fall back!)
What is Plantar reflex?
The plantar reflex is actually present in most people. But in babies, it’s known as the extensor plantar reflex. What happens when you stroke the bottom of your new-born’s foot? Keep your stroke firm as you run your finger up the outer part of their sole. You’ll notice your baby’s big toe flex up and out. The other toes follow suit. This is called the Babinski sign.
You’ll notice this reflex in this form from the time your baby is born until they reach about 1 to 2 years. After that, thanks to your baby’s developing central nervous system, this reflex evolves into what’s called the normal plantar reflex, or the toe curling down.
What is Sucking reflex?
Here’s another reflex that you’ll notice right after birth. Put a nipple or your clean finger into your baby’s mouth, and they’ll start to suck rhythmically. It’s no surprise — your baby started practicing in the womb as a 14-week-old embryo.
Getting the sucking reflex right is important not only because your baby needs to eat to survive, but also because it helps your baby to coordinate breathing and swallowing. By the time your baby reaches 2 months old, they’ll have learned to control this sucking reflex, and it will become more voluntary.
What is Rooting reflex?
Your baby needs to be able to find their food source. Since about 32 weeks gestation, they’ve been practicing doing just that. As a newborn, your baby will turn their head toward anything that touches their cheek — a nipple or a finger.
This reflex comes in especially handy for breastfed babies. Watch how they turn their head in search of your nipple when their cheek touches you breast.
As your baby becomes more aware (at about 3 weeks), they’ll stop rooting and will be able to move towards your breast without the failed attempts at honing in. By 4 months old, the only thing that will remain of this reflex is a cute memory.
What is Galant reflex?
This is another reflex you may notice at birth, but it’s also hard to elicit unless you watch your paediatrician do it. Until your baby reaches 4 to 6 months, when, say, a doctor holds your baby face down over the doctor’s hand and strokes the skin along the side of baby’s back, your baby will shift toward the side that was stroked.
This reflex helps to develop range of motion in your baby’s hip so that they’ll be ready to crawl and then walk. Thank Russian neurologist Galant for pointing it out.
What is Moro (startle) reflex?
It’s easy to see how the Moro reflex (take a bow, Ernst Moro) helps your baby survive. Although you’ll only notice this reflex at birth, your baby has been hard at work perfecting the moves since 28 weeks gestation.
The reflex — also known as the startle reflex — reaches a peak when your baby reaches 1 month and begins to disappear when they turn 2 months old.
Several things may set off this reflex:
a sudden change in the position of your baby’s head,
an abrupt temperature change,
a startling noise.
The baby’s legs and head stretch out and how their arms jerk up and out. Then your baby brings their arms together, clenches their hands into fists, and may yell in protest.
By the time your baby reaches 3 to 4 months of age this reflex will have disappeared. Late bloomers will hold on to the reflex till about 6 months of age.
What is Stepping reflex?
As long as you support your newborn, they can actually walk! You’ll have to help your baby by holding them up under the arms. Remember to support the head too. And then, watch what happens when the soles of their feet touch a flat surface. They’ll put one foot in front of the other in an attempt to walk.
This reflex disappears at around 2 to 5 months old. But it doesn’t mean that it’s forgotten. Your baby draws on the residual memory of this reflex when they learn to walk at about a year old.
What is Asymmetrical tonic neck reflex (ATNR)?
ATNR is present at birth. In fact, your baby has been doing this since 35 weeks gestation.
Turn your baby’s head sideways and watch how the arm and leg on that side straighten while the opposite arm and leg bend. This reflex helps your baby turn their head when they’re lying on their stomach. It’s also the start of hand-eye coordination, so thank ATNR when your baby starts reaching for their rattle.
By 3 months old, this reflex will have disappeared.
What is Tonic labyrinthine reflex (TLR)?
TLR is also present at birth. There are two parts to this reflex — forward and backward.
To see this reflex at work, lay your baby on their back and tilt their head forward above the level of the spine. See their arms and legs curl in? For the backward TLR, lay your baby on their back, supporting their head over the edge of a bed. Tilt their head backward below the level of their spine. Watch their arms and legs flail out.
This is your baby’s response to gravity. Thanks to this reflex, your baby learns how to straighten out from the foetal position. The reflex disappears at around 2 to 4 months old.
What is Symmetric tonic neck reflex (STNR)?
You’re used to these initials, right? The STNR, symmetric tonic neck reflex, normally peaks when your infant is 6 to 9 months old — around the same time that the ATNR disappears.
When your infant’s head moves forward, their arms bend and their legs straighten. The opposite happens when their head flexes backward: The arms straighten and the legs bend back.
What’s all this contortion leading to? Your baby is now learning to use the upper and lower parts of their body independently. These movements help them push up onto their hands and knees.
Now comes the surprise: For your infant to progress to true crawling, they’ll have to let go of this reflex. By the time they reach their first to second birthday, the STNR should have fully disappeared.
What is reflex integration?
When your paediatrician speaks about reflex integration, they’re talking about the disappearance of these reflexes as they are folded into more voluntary movements. Yup, in medical jargon, “integration” equals “disappearance.”
A reflex that outstays its welcome is labelled “unintegrated” or “persistent.” An unintegrated reflex may signal that your baby’s central nervous system has been damaged. It may also show that this system hasn’t taken over sufficiently for the reflex to become a voluntary motor movement.
What happens when primitive reflexes are retained?
Ideally, as a child’s CNS matures, the involuntary movements become controlled motor responses. If this doesn’t happen, the child will struggle with both motor and cognitive skills.
What is Prayer Sign?
An inability to fully oppose the palmar surfaces of the digits with the hands
held in the praying position, recognized causes of which include ulnar neuropathy (main en griffe), Dupuytren’s contracture, diabetic cheiroarthropathy, and camptodactyly.
What does camptodactyly mean?
Camptodactyly is a medical condition that causes one or more fingers to be permanently bent.
What is Froment S maneuver?
Froment’s sign is a special test of the wrist for palsy of the ulnar nerve, specifically, the action of adductor pollicis. Froment’s maneuver can also refer to the cogwheel effect from contralateral arm movements seen in Parkinson’s disease.
What is Presbyastasis?
Presbyastasis, or the disequilibrium of ageing, is a condition of elderly patients
who present with imbalance and disequilibrium that cannot be ascribed to a
particular disease state or single causative factor (e.g. vestibular disease, visual
impairment, peripheral neuropathy). It is thought that abnormal sensory input,
abnormal CNS sensory processing, abnormal control mechanisms for balance,
a decreased range of movement and strength may all contribute to symptoms.
White matter changes on brain MRI have been associated with the condition. Vestibular rehabilitation therapy and avoidance of vestibular suppressant
medications may be helpful.
What is Presbycusis?
Presbycusis is a progressive sensorineural hearing loss, especially for high frequencies, developing with increasing age, which may reduce speech discrimination. It is thought to be due to age-related attrition of hair cells in the organ of Corti and/or spiral ganglion neurones.
What is Presbyopia?
Presbyopia is progressive far-sightedness which is increasingly common with
increasing age, thought to be due to an age-related impairment of accommodation.
What is Pressure Provocation Test?
This is one of the provocative tests for carpal tunnel syndrome: it is positive if
paraesthesia in the distribution of the median nerve develop when pressure is
exerted on the palmar aspect of the patient’s wrist at the level of the carpal tunnel
for 60 s.
What is Presque vu?
It is the tip of the tongue phenomenon, in which you know that you know something, but can’t quite recall it. Jamais vu is the feeling that something familiar appears strange and unfamiliar. It is the opposite of déjà vu,
What is Prevost’s Sign?
Also known as Vulpian’s sign, this refers to the acute and transient gaze palsy in
a frontal lesion (e.g. infarct) which is towards the side of the lesion and away from
the concurrent hemiparesis. The eyes can be brought to the other side with the
oculocephalic manoeuvre or caloric testing. In contrast, thalamic and basal ganglia haemorrhages produce forced deviation of the eyes to the side contralateral
to the lesion (wrong-way eyes).
What is Priapism?
Priapism is an unintended, sustained, and usually painful erection of the penis
unrelated to sexual activity. It may occur with intramedullary spinal cord lesions
(e.g. multiple sclerosis) which damage the lumbosacral erection centres and
has also been reported with lumbar canal spinal stenosis. There are also non-neurological causes, such as haematological conditions (sickle cell anaemia,
polycythaemia rubra vera) which may cause intra-penile thromboses.
What is Primitive Reflexes?
Reflexes which are normally found in infancy but which disappear with brain
maturation during childhood may be labelled as ‘primitive reflexes’ if they re-emerge in adulthood as a consequence of pathological states. Many of these
reflexes are seen with frontal lobe pathology (e.g. grasp, pout/snout, palmomental, rooting, corneomandibular) and hence may also be known as ‘frontal release
signs’. However, the term ‘primitive reflex’ could equally apply to Babinski’s sign
which is not necessarily frontal in origin.
What is Procerus Sign?
A focal dystonia of the procerus muscle, denoted the procerus sign, has been
suggested to contribute to the ‘astonished’, ‘worried’, or ‘reptile-like’ facial
expression typical of progressive supranuclear palsy, which may also be characterized by reduced blinking, lid retraction, and gaze palsy. All contrast with
the hypomimia of Parkinson’s disease. It has also been described in corticobasal
degeneration.
What is Parkinson’s face?
Parkinson’s facies (parkinsonian facies) a stolid masklike expression of the face, with infrequent blinking, which is pathognomonic of Parkinson’s disease.
What’s the life expectancy for Parkinson’s disease?
Recent studies conducted on patients with Parkinson’s disease, show that the survival rate of patients after 10 years of diagnosis is the same as in any other healthy individual. Studies also reveal that even, if a patient suffers from Parkinson’s disease for 15 or even 20 years, the life expectancy lowers only to some extent.
What is Hypomimia?
It is (masked facies, masking of facies), a medical sign, is a reduced degree of facial expression. It can be caused by motor impairment (for example, weakness or paralysis of the facial muscles), as in Parkinson’s disease, or by other causes, such as psychological or psychiatric factors (for example, if a patient actually does not feel emotions and thus does not show any expression).
What is Pronator Drift?
Pronator drift is pronation of the forearm observed when the arms are held
straightforward, palms up, with the eyes closed. It suggests a contralateral corticospinal tract lesion and may be accompanied by downward drift of the arm and
flexion of the fingers and/or elbow. It reflects the relative weakness of supinators vs. pronators in the arm with a pyramidal lesion, in addition to the relative
weakness of extensors vs. flexors. It may be an early sign of corticospinal tract
dysfunction.
What is Finger rolling test?
Finger rolling is a variant in which the patient rotates just the index fingers. It is even more sensitive than the forearm rolling test. In Video 2, a patient with MS has normal forearm rolling but posting of the left index finger with finger rolling. There was no weakness on formal strength testing. In the thumb rolling test, the patient rotates only the thumbs.
What is Proprioception?
Proprioception sensation, or joint position sense, is knowledge about ones position in space, originating from sensory receptors in skin, muscle, and viscera.
Proprioceptive information is carried within the dorsal columns of the spinal
cord (more reliably so than vibration sensation, though not necessarily exclusively). Lesions affecting this part of the cord, particularly in the cervical region
(e.g. subacute combined degeneration of the cord due to vitamin B12 deficiency,
tabes dorsalis), lead to impairments of proprioception with sparing of spinothalamic sensations (pin-prick, temperature) producing a dissociated sensory loss.
Impairment of proprioception leads to sensory ataxia which may manifest clinically with pseudoathetosis or pseudo choreoathetosis (also seen in useless hand of Oppenheim) and with a positive Romberg’s sign.
What is Pseudo choreoathetosis?
These cases suggest that proprioceptive sensory loss can lead to a movement disorder, termed pseudo choreoathetosis, which occurs following the appearance of lesions anywhere along proprioceptive sensory pathways, from peripheral nerves to the cerebral cortex.
What is Pseudoathetosis?
It is abnormal writhing movements, usually of the fingers, caused by a failure of joint position sense (proprioception) and indicates disruption of the proprioceptive pathway, from nerve to parietal cortex.
What is ‘Useless Hand’?
Hermann Oppenheim described the ‘Useless Hand’ in 1911 as a classical but uncommon presentation of multiple sclerosis, in which a hand loses useful function due to proprioceptive loss, with relatively preserved motor function.
What is Rombergism?
A swaying or toppling motion in a patient while standing erect with feet together and eyes closed.
What is Proptosis?
Proptosis is forward displacement of the eyeball, an exaggerated degree of exophthalmos. There may be lower lid retraction. Proptosis may be assessed clinically
by standing directly behind the patient and gradually tipping the head back,
observing when the globe of the eyeball first comes into view; this is most useful for asymmetric proptosis. An exophthalmometer may be used to measure proptosis.
Once established, it is crucial to determine whether the proptosis is axial
or non-axial. Axial proptosis reflects increased pressure within or transmitted
through the cone of extraocular muscles (e.g. thyroid ophthalmopathy, cavernous
sinus thrombosis), whereas non-axial proptosis suggests pressure from an orbital
mass outside the cone of muscles (e.g. orbital lymphoma, pseudotumour, mucocele). Pulsatile axial proptosis may occur in carotico-cavernous fistula, in which
case there may be a bruit audible by auscultation over the eye. Venous angioma of
the orbit may cause an intermittent proptosis associated with straining, bending,
coughing, or blowing the nose.
Dedicated orbital CT or MRI, the latter with fat-suppression sequences and
intravenous gadolinium contrast, may be required to detect intraorbital masses.
Middle cranial fossa tumours may cause pressure on the veins of the
cavernous sinus with secondary intraorbital venous congestion causing a ‘falselocalizing’ proptosis.
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

1. Trochlear nerve palsy has occasionally been described; it might be overlooked because the signs are subtle
2. Unilateral hearing loss has been reported in IIH, although tinnitus is the more common otological problem in this condition
3. Unilateral papilloedema may be described as false localising when associated with contralateral visual loss and optic atrophy due to subfrontal 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: paresthesia 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 primitive postural reflex?
   Primitive & Postural Reflex. The postural reflexes support control of balance, posture and movement in a gravity-based environment. Postural reflex development is mirrored in the infant’s increasing ability to control its body, posture and movements.
   What are the effects of postural reflexes?
   The Effects of Immature Postural Reflexes. Poor postural control, body alignment and postural tone. Poor coordination. Poor fine motor control. Poor bilateral integration. Weak head control and/or associated head movement. Compromised gaze control. Reduced hand eye integration and fixation.
   What is festination gait?
   festinating gait one in which the patient involuntarily moves with short, accelerating steps, often on tiptoe, with the trunk flexed forward and the legs flexed stiffly at the hips and knees. It is seen in Parkinson’s disease and other neurologic conditions that affect the basal ganglia. Called also festination.
   What is Prosopagnosia?
   Prosopagnosia is a form of visual agnosia characterized by an inability to recognize previously known human faces or equivalent stimuli (hence, a retrograde
   defect) and to learn new ones (anterograde defect). As with more pervasive visual
   agnosia, this may be
   • apperceptive: due to faulty perceptual analysis of faces; or
   • associative: a semantic defect in recognition.
   Familiar individuals may be recognized by their voices or clothing or hair;
   hence, the defect may be one of visually triggered episodic memory. It is important to note that the defect is not limited solely to faces; it may encompass
   animals (‘zooagnosia’) or cars.
   Prosopagnosia is often found in association with a visual field defect, most
   often a left superior quadrantanopia or even hemianopia, although for the diagnosis of prosopagnosia to be made this should not be sufficient to produce a
   perceptual deficit. Alexia and achromatopsia may also be present, depending on
   the exact extent of the underlying lesion.
   Anatomically, prosopagnosia occurs most often in association with bilateral
   occipito-temporal lesions involving the inferior and mesial visual association
   cortices in the lingual and fusiform gyri, sometimes with subjacent white matter. Unilateral non-dominant (right) hemisphere lesions have occasionally been
   associated with prosopagnosia, and a syndrome of progressive prosopagnosia
   associated with selective focal atrophy of the right temporal lobe has been
   reported. Involvement of the periventricular region on the left side may explain
   accompanying alexia, and disconnection of the inferior visual association cortex
   (area V4) may explain achromatopsia.
   Pathological causes of prosopagnosia include
   • Cerebrovascular disease: by far the most common cause;
   • Tumour, e.g. glioma, extending from one hemisphere to the other via the
   splenium of the corpus callosum;
   • Epilepsy (paroxysmal prosopagnosia), due to bilateral foci or spread from
   one occipital focus to the contralateral hemisphere;
   • Focal right temporal lobe atrophy;
   • Herpes simplex encephalitis, usually as part of an extensive amnesic syndrome (although memory impairment may put this out with the operational criteria for an agnosia);
   • Developmental (or ‘congenital’) prosopagnosia; suggests that facial recognition is a separate neuropsychological function (the acquired pathologies do
   not respect functional boundaries).
   What is Proust Phenomenon?
   The Proust phenomenon, named after the author Marcel Proust (1871–1922), is
   the observation that particular odours may trigger reminders of autobiographical memories. There is some experimental evidence that olfactory stimuli can cue
   autobiographical memories more effectively than cues from other sensory modalities. The ‘petite madeleines phenomenon’ has been used to describe sudden
   triggering of memories in individuals with amnesia due to thalamic infarction.
   What is Proximal Limb Weakness?
   Weakness affecting predominantly the proximal musculature (shoulder abductors and hip flexors) is a pattern frequently observed in myopathic and dystrophic muscle disorders and neuromuscular junction transmission disorders, much more so, than predominantly distal weakness (the differential diagnosis of which encompasses myotonic dystrophy, distal myopathy of Miyoshi type, desmin
   myopathy, and, rarely, myasthenia gravis). Some neuropathic disorders may
   also cause a predominantly proximal weakness (e.g. Guillain–Barré syndrome).
   Age of onset and other clinical features may help to narrow the differential
   diagnosis: painful muscles may suggest an inflammatory cause (polymyositis,
   dermatomyositis); fatiguability may suggest myasthenia gravis (although lesser
   degrees of fatigue may be seen in myopathic disorders); weakness elsewhere may
   suggest a specific diagnosis (e.g. face in facioscapulohumeral muscular dystrophy, diaphragm in acid maltase deficiency) and cachexia points to underlying
   malignant disease; calf pseudohypertrophy suggests Duchenne or Becker muscular dystrophy; autonomic features and post tetanic potentiation of reflexes
   occur in Lambert–Eaton myasthenic syndrome. Investigations (blood creatine
   kinase, neurophysiology, and muscle biopsy) may be required to determine exact
   diagnosis.
   What is Differential diagnosis of Proximal Limb Weakness?
   • Myopathies:
   Inflammatory: polymyositis, dermatomyositis;
   Progressive muscular dystrophies: Duchenne, Becker, limb-girdle,
   facioscapulohumeral (FSH);
   Metabolic: acid maltase deficiency; thyroid dysfunction, Cushing’s
   syndrome;
   Non-metastatic feature of malignant disease;
   Drug-induced: alcohol, steroids.
   • Neuromuscular junction transmission disorders:
   Myasthenia gravis;
   Lambert–Eaton myasthenic syndrome.
   • Neuropathy:
   Guillain–Barré syndrome.
   What is Pseudoabducens Palsy?
   Sixth cranial nerve palsy refers to dysfunction of the sixth cranial nerve (abducens nerve). This is also known as lateral rectus palsy and abducens nerve palsy. It is the most common ocular cranial nerve palsy to occur in isolation
   What is Pseudoachromatopsia?
   Pseudoachromatopsia is failure on tests of colour vision (e.g. pseudoisochromatic plates) which is not due to central or peripheral achromatopsia, for example, due to visual neglect.
   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 is Pseudo-Argyll Robertson Pupil?
   A pseudo-Argyll Robertson pupil shows light-near dissociation of pupillary reactions, but unlike the ‘true’ Argyll Robertson pupil, there is no miosis or pupil
   irregularity. Indeed, the pupil may be dilated (mydriasis) and resemble a Holmes–
   Adie pupil. The latter may be differentiated on the basis of its response to dilute
   (0.2%) pilocarpine: Holmes–Adie pupil results from a peripheral lesion and
   shows denervation super sensitivity, constricting with dilute pilocarpine, whereas
   the pseudo-Argyll Robertson pupil results from a central lesion and does not
   respond. Pseudo-Argyll Robertson pupil has been reported in:
   • Diabetes mellitus
   • Multiple sclerosis
   • Wernicke’s encephalopathy
   • Neurosarcoidosis
   • Tumour
   • Haemorrhage
   • Aberrant oculomotor (III) nerve regeneration
   • Spinocerebellar ataxia type 1 (SCA1)
   What is Pseudoathetosis?
   Pseudoathetosis is the name given to athetoid-like movements, most usually of
   the outstretched fingers (‘piano-playing fingers’) and hands, resulting from sensory ataxia (impaired proprioception); it is worse with the eyes closed. There may
   also be chorea-like movements, hence pseudo choreoathetosis. Causes include
   any interruption to the anatomical pathway mediating proprioception, most
   often lesions in the dorsal cervical cord (e.g. multiple sclerosis, subacute combined degeneration of the cord due to vitamin B12 deficiency, or nitrous oxide overuse), but also lesions of the large (myelinated) peripheral nerve fibres and of the parietal lobe.
   What are the six basic human emotions?
   Information of Human Emotions. Many psychologists believe that there are six main types of emotions, also called basic emotions. They are happiness, anger, fear, sadness, disgust, and surprise. Happiness is our reaction to the positive, as disgust is to the revolting and surprise is to the unexpected.
   What is Pseudo-Babinski Sign?
   Pseudo-Babinski sign is the name given to dystonic extension of the great toe on
   stroking the sole of the foot, as when trying to elicit Babinski’s sign, with which
   this may be confused, although pseudo-Babinski responses persist for longer, and spontaneous extension of the toe, striatal toe, may also be present. Pseudo Babinski signs may normalize after dopaminergic treatment in dopa-responsive dystonia.
   What is Pseudobulbar Palsy?
   Pseudobulbar palsy, or spastic bulbar palsy, describes bilateral upper motor neurone lesions affecting fibres passing to the cranial nerve nuclei (cf. bulbar palsy).
   This leads to a variety of clinical features, including
   • difficulty with speech: spastic dysarthria, dysphonia;
   • difficulty with swallowing: dysphagia;
   • brisk jaw jerk and pout reflex; there may be trismus;
   • slow, spastic, tongue movements;
   • gag reflex may be depressed or exaggerated.
   There may be associated emotional lability, or pathological laughter and crying (‘pseudobulbar affect’), and a gait disorder with marche à petit pas. There are
   otherwise few signs in the limbs, aside from brisk reflexes and upgoing plantar
   responses (Babinski’s sign).
   Recognized causes of pseudobulbar palsy include
   • Motor neurone disease (in which there may be coincident bulbar palsy);
   • Multiple sclerosis;
   • Bilateral internal capsule lacunar infarctions, widespread small vessel disease (Binswanger’s disease);
   • Congenital childhood suprabulbar palsy (Worster–Drought syndrome; perisylvian syndrome).
   Pseudobulbar affect may respond to serotonin-reuptake inhibitors.
   What is Pathological laughter and crying (PLC)?
   Pathological laughter and crying (PLC) is a condition defined by relatively uncontrollable episodes of laughter, crying or both. The episodes either do not have an apparent motivating stimulus or are triggered by a stimulus that would not have led the subject to laugh or cry prior to the onset of the condition. In some instances, the stimulus may have an emotional valence contrary to the emotional expression. For example, patients can laugh in response to sad news or cry in response comedy.
   What is Jaw Jerk Reflex?
   The jaw jerk reflex or the masseter reflex is a stretch reflex used to test the status of a patient’s trigeminal nerve (cranial nerve V) and to help distinguish an upper cervical cord compression from lesions that are above the foramen magnum. The mandible—or lower jaw—is tapped at a downward angle just below the lips at the chin while the mouth is held slightly open. In response, the masseter muscles will jerk the mandible upwards. Normally this reflex is absent or very slight. However, in individuals with upper motor neuron lesions the jaw jerk reflex can be quite pronounced.
   What is Pseudo choreoathetosis?
   Pseudo choreoathetosis is the name given to choreoathetoid-type involuntary
   movements, including dystonic movements, which result from a loss or impairment of proprioception. These may be observed with lesions anywhere along
   the proprioceptive pathways, including parietal cortex, thalamus (there may be
   associated ataxic hemiparesis and hemihypoaesthesia), spinal cord, dorsal root
   ganglia (neuronopathy), and mononeuropathy.
   What is marche pas?
   Marche à petit pas. Marche à petits pas [maʁʃ a pəti pa] (“gait with little steps”) is a type of gait disorder characterised by an abnormal short stepped gait with upright stance (in strict sense, as opposed to generally stooping short-stepped gait of Parkinson’s disease), seen in various neurological (or sometimes muscular) disorders.
   What is Ataxic hemiparesis?
   It is a well-recognized lacunar syndrome involving homolateral ataxia with accompanying corticospinal tract impairment.
   What is a right basal ganglia lacunar infarct?
   A bilateral lacunar infarct refers to a stroke that damages deep brain structures, for example the thalamus, the basal ganglia or the pons, in both hemispheres of the brain, according to Drugs.com. It occurs when one of the arteries carrying blood to these areas becomes blocked. There are several symptoms.
   What is a pure motor stroke?
   Pure motor stroke/hemiparesis. It is characterized by contralateral hemiparesis that typically affects the face, arm, or leg in approximately equal measure. A ‘pyramidal’ pattern of weakness may also be present.
   What is a pure sensory stroke?
   The overwhelming majority of pure sensory lacunar strokes affects a brain area called the thalamus, an area that is heavily involved in processing the senses from all over the body. Sensations affected by a pure sensory stroke include touch, pain, temperature, pressure, vision, hearing, and taste.
   What is the definition of proprioception?
   Proprioception, also referred to as kinaesthesia (or kinesthesia, in American English), is the sense of self-movement and body position.
   What is Pseudoathetosis?
   Pseudoathetosis is abnormal writhing movements, usually of the fingers, caused by a failure of joint position sense (proprioception) and indicates disruption of the proprioceptive pathway, from nerve to parietal cortex.
   What is Useless hand of Oppenheim?
   Hermann Oppenheim described the ‘Useless Hand’ in 1911 as a classical but uncommon presentation of multiple sclerosis, in which a hand loses useful function due to proprioceptive loss, with relatively preserved motor function. Light touch perception may be subjectively altered or can be relatively intact.
   What is Pseudodementia?
   Pseudodementia is a label given to cognitive impairments resulting from affective
   disorders, most commonly anxiety and depression; the terms ‘dementia syndrome of depression’ and ‘depression-related cognitive dysfunction’ have also
   been used. The pattern of cognitive deficits in individuals with depression most
   closely resembles that seen in so-called subcortical dementia, with bradyphrenia, attentional, and executive deficits. In addition, there may be evident lack
   of effort and application, frequent ‘No’ or ‘don’t know’ answers, approximate
   answers (Ganser phenomenon, vorbereiden), and evidence of mood disturbance
   (tearfulness). Memory loss for recent and distant events may be equally severe
   (cf. temporal gradient of memory loss in dementia, e.g. due to Alzheimer’s disease). A 22-item checklist to help differentiate pseudodementia from Alzheimer’s
   disease has been described, based on clinical history, behaviour, and mental
   status.
   The recognition of pseudodementia is important since the deficits are often
   at least partially reversible with appropriate treatment with antidepressants.
   However, it should be borne in mind that depression is sometimes the presenting symptom of an underlying neurodegenerative dementing disorder such
   as Alzheimer’s disease. Psychomotor retardation in dementia syndromes may
   also be mistaken for depression. Longitudinal assessment may be required to
   differentiate between these diagnostic possibilities.
   What are the symptoms of Ganser syndrome?
   A classic symptom of Ganser syndrome is vorbeireden. This is when the person gives nonsense answers to simple questions. In addition, a person with this condition may report physical problems such as an inability to move part of the body, called “hysterical paralysis.”. Loss of memory (amnesia)…
   What does palinopsia mean?
   Palinopsia (Greek: palin for “again” and opsia for “seeing”) 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 is illusory palinopsia?
   Cause and pathophysiology. Illusory palinopsia is a dysfunction of visual perception, resulting from diffuse, persistent alterations in neuronal excitability that affect physiological mechanisms of light or motion perception. Illusory palinopsia is caused by migraines, HPPD, prescription drugs, head trauma, or may be idiopathic.
   What is the definition of incomplete palinopsia?
   Illusory palinopsia consists of the following four symptom categories. Prolonged indistinct afterimages are unformed and occur at the same location in the visual field as the original stimulus. Stimulus intensity, contrast, and fixation length affects the generation and severity of these perseverated images.
   What is Pseudo-hallucination?
   The term pseudo-hallucination has been used in different ways. In the European
   psychopathological tradition, it may refer simply to vivid visual imagery, whereas
   in the American arena it may refer to hallucinations that are recognized for what
   they are, i.e. the patient has insight. Some patients with dementia with Lewy
   bodies certainly realize that their precepts do not correspond to external reality
   and similar experiences may occur with dopamine agonist treatment.
   What are common symptoms of muscular dystrophy?
   This type of muscular dystrophy also more commonly affects boys. Muscle weakness occurs mostly in your arms and legs, with symptoms appearing between age 11 and 25. Other symptoms of Becker muscular dystrophy include: walking on your toes. frequent falls. muscle cramps. trouble getting up from the floor.
   What is the most common form of muscular dystrophy?
   Also known as Steinert’s disease, this form is characterized by an inability to relax muscles at will following contractions. Myotonic muscular dystrophy is the most common form of adult-onset muscular dystrophy. Facial and neck muscles are usually the first to be affected.
   How is DMD diagnosed?
   Duchenne Muscular Dystrophy (DMD) Diagnosis. In diagnosing any form of muscular dystrophy, a doctor usually begins by taking a patient and family history, and performing a physical examination. Much can be learned from these, including the pattern of weakness.
   How is DMD inherited?
   Inheritance in DMD. DMD is inherited in an X-linked pattern, because the gene that can carry a DMD-causing mutation is on the X chromosome. Every boy inherits an X chromosome from his mother and a Y chromosome from his father, which is what makes him male.
   What does muscular dystrophy feel like?
   Oculopharyngeal muscular dystrophy causes weakness in your facial, neck, and shoulder muscles. Other symptoms include: drooping eyelids. trouble swallowing. voice changes. vision problems. heart problems. difficulty walking.
   What are types of muscular dystrophy?
   Muscular dystrophy is a group of inherited diseases characterized by weakness and wasting away of muscle tissue, with or without the breakdown of nerve tissue. There are 9 types of muscular dystrophy, with each type involving an eventual loss of strength, increasing disability, and possible deformity.
   The most well-known of the muscular dystrophies is Duchenne muscular dystrophy (DMD), followed by Becker muscular dystrophy (BMD).
   What are other neuromuscular diseases?
   Spinal muscular atrophies
   Amyotrophic lateral sclerosis (ALS), or motor neuron disease
   Infantile progressive spinal muscular atrophy
   Intermediate spinal muscular atrophy
   Juvenile spinal muscular atrophy
   Adult spinal muscular atrophy
   Inflammatory myopathies
   Dermatomyositis
   Polymyositis
   Inclusion body myositis
   Diseases of peripheral nerve
   Charcot-Marie tooth disease
   Dejerine-Sottas disease
   Friedreich’s ataxia
   Diseases of the neuromuscular junction
   Myasthenia gravis
   Lambert-Eaton syndrome
   Botulism
   Metabolic diseases of the muscle
   Acid maltase deficiency
   Carnitine deficiency
   Carnitine palmityl transferase deficiency
   Debrancher enzyme deficiency
   Lactate dehydrogenase deficiency
   Mitochondrial myopathy
   Myoadenylate deaminase deficiency
   Phosphorylase deficiency
   Phosphofructokinase deficiency
   Phosphoglycerate kinase deficiency
   Less common myopathies
   Central core disease
   Hyperthyroid myopathy
   Myotonia congenita
   Myotubular myopathy
   Nemaline myopathy
   Paramyotonia congenita
   Periodic paralysis-hypokalemic-hyperkalemic
   What is Pseudo-Internuclear Ophthalmoplegia?
   Pseudo-internuclear ophthalmoplegia is a disorder of eye movements with
   impaired adduction in one eye and horizontal nystagmus in the abducting eye (i.e.
   signs as in an internuclear ophthalmoplegia) but without an intrinsic brainstem
   lesion. This sign may be seen in:
   • Myasthenia gravis (a diagnosis which is always worthy of consideration in a
   patient with an ‘isolated INO’) due to extraocular muscle weakness
   • Brainstem compression due to subdural haematoma with transtentorial
   herniation
   • Cerebellar mass lesion
   • Guillain–Barré syndrome, Miller Fisher syndrome
   • Thyroid ophthalmopathy
   • Orbital pseudotumour
   The preservation of rapid saccades despite restriction of eye movements in
   myasthenia gravis may result from selective sparing of pale global muscle fibres
   which generate high-speed movements.
   What is Pseudo-myotonia?
   The term pseudo-myotonia has been used in various ways:
   • It may be used to describe the clinical appearance of myotonia (slow muscular relaxation after contraction) in the absence of myotonic discharges on
   electromyography. Pseudo-myotonia is most commonly observed as the slow relaxing or ‘hung-up’ tendon reflexes (Woltman’s sign) of hypothyroidism,
   although other causes are described.
   • Pseudomyotonia has also been used to describe difficulty opening the hand
   in cervical osteoarthritis, although muscle relaxation is normal; finger flexion on attempted extension has been explained as due to aberrant axonal
   regeneration of the C7 root.
   • The term pseudomyotonia has also been used to describe neuromyotonia
   and myokymia (as, for example, in Isaacs syndrome), to distinguish it from
   myotonia.
   What is Woltman’s sign?
   It, (also called Woltman’s sign of hypothyroidism or, in older references, myxedema reflex) is a delayed relaxation phase of an elicited deep tendon reflex, usually tested in the Achilles tendon of the patient. Woltman’s sign is named for Henry Woltman, an American neurologist.
   What is One and a half syndrome?
   One-and-a-half syndrome is a gaze abnormality characterized by a conjugate horizontal gaze palsy in one direction plus an internuclear ophthalmoplegia in the other.
   What is Pseudo-One-and-a-Half Syndrome?
   Pseudo-one-and-a-half syndrome is the eye movement disorder of one-and-a half syndrome without a brainstem lesion. Myasthenia gravis and Guillain–Barré syndrome are recognized causes.
   What is Pseudopapilloedema?
   Pseudopapilloedema is the name given to elevation of the optic disc that is not
   due to oedema (i.e. intracranial pressure is not raised). There may or may not
   be visible drusen (hyaline bodies). In distinction to oedematous disc swelling, the
   nerve fibre layer is not hazy and the underlying vessels are not obscured; however,
   spontaneous retinal venous pulsation is usually absent, and haemorrhages may
   be seen, so these are not reliable distinguishing features. Visual acuity is usually
   normal, but visual field defects (most commonly in the inferior nasal field) may
   be found.
   What is Pseudoptosis?
   Ptosis, drooping of the eyelid, may need to be differentiated from pseudoptosis
   or functional ptosis. This may result simply from a redundant tarsal skin fold,
   especially in older patients, or be a functional condition. Frontalis underactivity
   may be a clinical indicator of the latter diagnosis (cf. compensatory overactivity
   of frontalis with other causes of ptosis).
   The term pseudoptosis has also been used in the context of hypotropia;
   when the non-hypotropic eye fixates, the upper lid follows the hypotropic eye
   and appears ptotic, disappearing when fixation is with the hypotropic eye.
   What is Pseudoradicular Syndrome?
   Thalamic lesions may sometimes cause contralateral sensory symptoms in an
   apparent radicular (e.g. C8) distribution. If associated with perioral sensory
   symptoms this may be known as the cheiro-oral syndrome.
   What is Pseudo-Von Graefe’s Sign?
   Pseudo-Von Graefe’s sign is involuntary retraction or elevation of the upper eyelid (cf. Von Graefe’s sign), medial rotation of the eye, and pupillary constriction
   seen on attempted downgaze or adduction of the eye. This constellation of
   findings is said to be a lid-gaze synkinesis following aberrant axonal regeneration after an oculomotor (III) nerve palsy, usually of traumatic or chronic compressive rather than ischaemic origin.
   What is Athymhormic syndrome?
   It, (“mood” or “affect”, and hormḗ, “impulse”, “drive” or “appetite”), or psychic akinesia, is a rare psychopathological and neurological syndrome characterized by extreme passivity, apathy, blunted affect and a profound generalized loss of self-motivation and conscious thought.
   What is Graefe sign?
   Von Graefe’s sign. Von Graefe’s sign is the lagging of the upper eyelid on downward rotation of the eye, indicating exophthalmic goiter (Graves’ Disease). It is a dynamic sign, whereas lid lag is a static sign which may also be present in cicatricial eyelid retraction or congenital ptosis. A pseudo Graefe’s sign (pseudo lid lag) …
   What is Athymhormia?
   It 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 is the legal definition of blindness?
   Legally, blindness is defined as less than 20/200 vision in the better eye with glasses (vision of 20/200 is the ability to see at 20 feet only what the normal eye can see at 200 feet).
   What is psychic blindness?
   “Psychic blindness” is the opposite. Besides perfect eyesight, a person suffering from visual ‘object agnosia,’ cannot recognize an object due to the inability to associate the optical signals with the memorized concept of the object in sight. The same object could, however, be identified by the means of other senses such as hearing or touch.
   What is Psychomotor Retardation?
   Psychomotor retardation is a slowness of thought (bradyphrenia) and movement
   (bradykinesia) seen in psychiatric disorders, particularly depression. It may be
   confused with the akinesia of parkinsonism and with states of abulia or catatonia. Psychomotor retardation may also be a feature of the ‘subcortical’ type of
   dementia or of impairments of arousal (obtundation).
   What is Obtundation?
   Obtundation refers to less than full alertness (altered level of consciousness), typically as a result of a medical condition or trauma.
   There is a huge range of potential causes including head injury, interruption of blood circulation, impaired oxygenation or carbon dioxide toxicity (hypercapnia), CNS infections, drug intoxication or withdrawal, post-seizure state, hypothermia, and metabolic derangements such as hypoglycemia, hyponatremia,
   What are the signs of a frontal release?
   1 Snout. The snout is commonly elicited by very gently tapping the broad aspect of the reflex hammer against the lips. 2 Grasp. A grasp response may be elicited in several different ways. … 3 Palmomental Reflex. When the palmomental reflex is present, the mentalis muscle of the chin below the lower lip contracts when the palm is stroked.
   What are the symptoms of frontal lobe dysfunction?
   Frontal lobe lesions in adults can cause the re-emergence of certain primitive reflexes that are normally present in infants. These so-called frontal release signs include the grasp, snout, root, and suck reflexes. Of these reflexes, the grasp reflex is the most useful in evaluating frontal lobe dysfunction.
   What are Psychomotor symptoms?
   The most common signs of psychomotor agitation include: People who have psychomotor agitation will display a set of behaviours, including: In severe cases, psychomotor agitation can lead to self-inflicted harm. People may rip, chew, or pull at the skin near their lips, fingernails, or other body parts until they bleed.
   What is Ptosis?
   Ptosis, or blepharoptosis, is the name given to drooping of the eyelid. This may be
   due to mechanical causes such as aponeurosis dehiscence, or neurological disease,
   in which case it may be congenital or acquired, partial or complete, unilateral or
   bilateral, fixed or variable, isolated or accompanied by other signs, e.g. miosis in
   a Horner’s syndrome; diplopia in myasthenia gravis; mydriasis and downward
   and outward deviation of the eye in an oculomotor (III) nerve palsy. Ptosis may
   result from pathology in a variety of locations: brainstem disease involving the
   oculomotor (III) nerve; anywhere along the oculosympathetic autonomic pathway causing a Horner’s syndrome; or cortical disease (e.g. infarction) reflecting
   hemispheric control of the eyelid (probably bilaterally represented).
   What are causes of Ptosis?
   When considering the cause of ptosis, the differential diagnosis is broad.
   Recognized causes include
   • Congenital:
   Cranial nerve dysinnervation disorder
   Congenital Horner’s syndrome
   Oculomotor-trigeminal (or trigeminal-levator) synkinesis: Marcus
   Gunn jaw-winking phenomenon, or inverse Marcus Gunn phenomenon (ptosis on jaw opening)
   • Neurogenic:
   Supranuclear lesion:
   Hemiparesis: due to cortical infarct; ptosis usually ipsilateral,
   incomplete
   Duane syndrome: ptosis on eye adduction, due to supranuclear
   levator inhibition; usually with family history
   Oculomotor (III) nerve:
   Hypertension, diabetes mellitus: ptosis often complete; in a superior
   divisional third nerve palsy partial ptosis is associated with superior
   rectus weakness only
   Compressive lesion (e.g. posterior communicating artery aneurysm):
   ptosis usually incomplete; ptosis may be present with subarachnoid
   haemorrhage
   Guillain–Barré syndrome
   Facial paresis
   • Neuromuscular junction:
   Myasthenia gravis: ptosis variable, bilateral or unilateral
   Excessive botulinum toxin, e.g. given for treatment of blepharospasm
   • Myogenic: ptosis usually bilateral:
   Mitochondrial disease (CPEO)
   Myotonic dystrophy
   Oculopharyngeal muscular dystrophy (OPMD)
   • Local, ophthalmological causes:
   Age-related aponeurosis dehiscence, trauma, thyroid eye disease, lid
   inflammation (chalazion), lymphoma
   Pseudoptosis (q.v.) enters the differential diagnosis.
   Enhanced ptosis, worsening of ptosis on one side when the other eyelid is
   held elevated in a fixed position, may be demonstrated in myasthenia gravis and
   Lambert–Eaton myasthenic syndrome.
   What is sialorrhea?
   Sialorrhea is drooling or excess saliva that you cannot control. It may be caused by weakness or loss of control of the face, tongue, mouth, or throat muscles that makes it difficult to swallow. It may also be caused by conditions that increase saliva production, such as gastric reflux or the use of certain medicines like clozapine.
   What is Ptyalism?
   It is a condition where you make too much saliva. People with ptyalism might produce one to two litres of saliva daily. Ptyalism is also known as hypersalivation or sialorrhea, and often affects women in the early stages of pregnancy
   What is Pulfrich Phenomenon?
   The Pulfrich phenomenon is the observation that a pendulum swinging from
   side to side appears to traverse a curved trajectory. This is a stereo-illusion resulting from latency disparities in the visual pathways, most commonly seen as a consequence of conduction slowing in a demyelinated optic nerve following unilateral optic neuritis. A tinted coloured lens in front of the good eye can alleviate the symptom (or induce it in the normally sighted).
   What is the meaning of Phosphene?
   A phosphene is a phenomenon characterized by the experience of seeing light without light actually entering the eye. The word phosphene comes from the Greek words phos (light) and phainein (to show). Phosphenes that are induced by movement or sound may be associated with optic neuritis.
   What is pull test?
   The Retropulsion Test’ or Pull Test’ (Postural Stability Item #30 of the Unified Parkinson’s Disease Rating Scale; UPDRS) is a commonly used clinical test of postural stability for patients with PD. This test evaluates the ability of patients to recover from a backward pull on the shoulders.
   What is postural reflex?
   Postural reflexes keep the body upright and aligned. These reflexes are triggered by the effects of gravity on the body and begin to develop after the baby is born. The postural reflexes gradually replace the primitive reflexes and should be established by the time a child is three and a half.
   What is the shift from primitive reflexes to postural reflexes?
   The shift from primitive (brainstem) reflexes to postural reflexes signifies a maturing of the child’s nervous system. The postural reflexes allow subconscious control of posture, balance and coordination.
   What is Punding?
   Punding is characterized by repetitive pointless behaviours, with a compulsive
   flavour to them, carried on for long periods of time to the exclusion of other
   activities (like writing a book). It is frequently related to previous occupation
   or hobbies but is seldom pleasurable. It occurs in Parkinson’s disease but the
   incidence is low (1.4% in one study). It is thought to be related to dopaminergic stimulation and may be associated with impulse control disorder such as pathological gambling and hypersexuality.
   What is Pupillary Reflexes?
   Two pupillary reflexes are routinely examined in clinical practice:
   • Light reflex:
   The eye is illuminated directly and the reaction (constriction) observed;
   the consensual light reflex is observed by illuminating the contralateral
   eye. In an eye with poor visual acuity, a relative afferent pupillary defect
   may be observed using the ‘swinging flashlight test’. The afferent pathway subserving the light reflex is optic nerve to thalamus, brainstem,
   and Edinger–Westphal nucleus, with the efferent limb (pupillomotor
   parasympathetic fibres) in the oculomotor (III) nerve. The contralateral (consensual) response results from fibres crossing the midline in
   the optic chiasm and in the posterior commissure at the level of the
   rostral brainstem.
   Paradoxical constriction of the pupil in darkness (Flynn phenomenon)
   has been described.
   • Accommodation reflex:
   This is most conveniently examined by asking the patient to look into
   the distance, then focus on a near object (sufficiently close to necessitate
   convergence of the visual axes) when pupil constriction should occur
   (accommodation–convergence synkinesis). The afferent pathways subserving this response are less certain than for the light reflex and may
   involve the occipital cortex, although the final (efferent) pathway via
   Edinger–Westphal nucleus and oculomotor nerve is common to both
   accommodation and light reflexes.
   In comatose patients, fixed dilated pupils may be observed with central
   diencephalic herniation, whereas midbrain lesions produce fixed midposition
   pupils.
   A dissociation between the light and accommodation reactions (light-near
   pupillary dissociation, q.v.) may be observed.
   What is Marcus Gunn pupil?
   The Marcus Gunn pupil is a relative afferent pupillary defect indicating a decreased pupillary response to light in the affected eye. The most common cause of Marcus Gunn pupil is a lesion of the optic nerve (between the retina and the optic chiasm) due to glaucoma, or severe retinal disease, or due to multiple sclerosis. It is named after Scottish ophthalmologist Robert Marcus Gunn. A second common cause of Marcus Gunn pupil is a contralateral optic tract lesion, due to the different contributions of the intact nasal and temporal hemifields
   What is Swinging flashlight sign?
   Relative afferent pupillary defect (RAPD) is a medical sign observed during the swinging-flashlight test whereupon the patient’s pupils dilate when a bright light is swung from the unaffected eye to the affected eye. The affected eye still senses the light and produces pupillary sphincter constriction to some degree, albeit reduced.
   What is the effect of swinging flash light?
   The affected eye still senses the light and produces pupillary sphincter constriction to some degree, albeit reduced. Depending of severity, different symptoms may appear during the swinging flash light test: Mild RAPD will present as a weak pupil constriction initially, after which dilation continues to happen.
   What is the Flynn effect?
   The Flynn effect, first described in the 1980s by researcher James Flynn, refers to the finding that scores on IQ tests have increased in the past century. Researchers studying this effect have found wide support for this phenomenon
   Is there a reverse Flynn effect?
   Research suggests that there is an ongoing reversed Flynn effect, i.e. a decline in IQ scores, in Norway, Denmark, Australia, Britain, the Netherlands, Sweden, Finland, France and German-speaking countries, a development which appears to have started in the 1990s.
   What is Pupil Sparing?
   Oculomotor (III) nerve lesions may be pupil sparing (normal response to
   light) or pupil-involving (mydriasis, loss of light reflex). The latter situation
   usually implies a ‘surgical’ cause of oculomotor palsy (e.g. posterior communicating artery aneurysm), especially if extraocular muscle function is relatively
   preserved. Pupil sparing suggests a ‘medical’ cause (e.g. diabetes mellitus, hypertension) especially if the palsy is otherwise complete (complete ptosis, eye deviated downwards and outwards). This disparity arises because pupillomotor fibres run on the outside of the oculomotor nerve and are relatively spared by ischaemia but are vulnerable to external compression. However, the distinction is not absolute; imaging for an aneurysm (by means of spiral CT, MRA, or catheter angiography) may be necessary if the clinical scenario leaves room for doubt.
   What is Pure Word Deafness?
   Pure word deafness is a rare condition characterized by an inability to comprehend and discriminate spoken language, despite adequate hearing as measured
   by audiometry and with preserved spontaneous speech, reading, reading comprehension, and writing (i.e. no aphasia, alexia, agraphia). Lip reading may assist
   in the understanding of others who sometimes seem to the patient as though they
   are speaking in a foreign language. Patients can copy and write spontaneously,
   follow written commands, but cannot write to dictation. Word repetition tasks
   are impaired. There may be associated amusia, depending on the precise location
   of cerebral damage.
   Pure word deafness has been variously conceptualized as a form of auditory
   agnosia or a subcortical sensory aphasia.
   Pure word deafness is most commonly associated with bilateral lesions of
   the temporal cortex or subcortical lesions whose anatomical effect is to damage the primary auditory cortex or isolate it (e.g. from Wernicke’s area) through
   lesions of the auditory radiation; unilateral lesions producing this syndrome have
   been reported. Very rarely pure word deafness has been associated with bilateral
   brainstem lesions at the level of the inferior colliculi.
   What is Pursuit?
   Pursuit, or smooth pursuit, eye movements hold the image of a moving target on
   the fovea, or during linear self-motion, i.e. they stabilize the gaze. This is dependent upon vestibulo-ocular reflexes and visually mediated reflexes. Impaired
   pursuit may result from occipital lobe lesions, and may be abolished by bilateral
   lesions, and may coexist with some forms of congenital nystagmus.
   What is Pyramidal Decussation Syndrome?
   Pyramidal decussation syndrome is a rare crossed hemiplegia syndrome, with
   weakness of one arm and the contralateral leg without involvement of the face,
   due to a lesion within the pyramid below the decussation of corticospinal fibres
   destined for the arm but above that for fibres destined for the leg.
   What is Quadrantanopia?
   Quadrantanopia (quadrantanopsia), a defect in one quarter of the visual field,
   suggests an optic radiation lesion. Occipital lobe pathology is the most common cause of both inferior and superior quadrantanopias, although temporal lobe pathology damaging Meyer’s loop typically must be considered with a superior homonymous quadrantanopia (‘pie-in-the-sky’ defect). Parietal lobe lesions may produce inferior quadrantic defects, usually accompanied by other localizing signs. Damage to extrastriate visual cortex (areas V2 and V3) has also been suggested to cause quadrantanopia; concurrent central achromatopsia favours this localization.
   What is Quadriparesis, Quadriplegia?
   Quadriparesis or quadriplegia (tetraparesis, tetraplegia) refers to weakness,
   partial or total, respectively, of all four limbs which may be of upper motor
   neurone or, less commonly, lower motor neurone type (e.g. in Guillain–Barré
   syndrome).
   • Lower motor neurone, and some acute upper motor neurone, pathologies produce a flaccid quadriparesis/quadriplegia with areflexia; urinary
   retention may be present.
   • Upper motor neurone lesions, particularly if chronic, produce a spastic quadriparesis with hypertonia, sustained clonus, hyperreflexia, loss of
   abdominal and cremasteric reflexes, and bilateral Babinski’s sign. As with
   hemiplegia, upper motor neurone quadriplegia may result from lesions of
   the corticospinal pathways anywhere from motor cortex to cervical cord via
   the brainstem, but is most commonly seen with brainstem and upper cervical cord lesions. In such circumstances, respiration may be affected. There
   may also be enhanced flexion defence reflexes (‘flexor spasms’) which may
   develop over time into a fixed flexion deformity with secondary contractures
   (‘paraplegia in flexion’). Incomplete or high spinal cord lesions may evolve
   to ‘paraplegia in extension’.
   What is Quadrupedalismy?
   Quadrupedalism, walking on all fours, has been observed as part of a recessive
   cerebellar hypoplastic syndrome associated with cerebellar ataxia and learning
   disability. This may result from mutations in the carbonic anhydrase-related
   protein 8 and has also been linked to two other loci, VLDLR and a locus on
   chromosome 17p.
   What is Rabbit Syndrome?
   The rabbit syndrome is a rest tremor of perioral and nasal muscles. It has been
   associated with both antipsychotic drug therapy and idiopathic Parkinson’s disease and is therefore presumably related to dopamine deficiency. No specific investigations are required, but a drug history, including over the counter medication, is crucial. The condition may be confused with edentulous dyskinesia, if there is accompanying tremor of the jaw and/or lip, or with tardive dyskinesia.
   Drug-induced rabbit syndrome may remit with drug withdrawal but not always.
   Appropriate treatment of Parkinson’s disease may also improve the involuntary
   movements. Anticholinergics may be tried.
   What is Raccoon Eyes?
   ‘Raccoon eyes’ refers to an appearance of bilateral periorbital ecchymosis, appearing 48–72 h after an anterior basal skull fracture.
   What is Radiculopathy?
   A radiculopathy is a disorder of nerve roots, causing pain in a radicular
   distribution, paraesthesia, sensory diminution or loss in the corresponding dermatome, and lower motor neurone type weakness with reflex diminution or
   loss in the corresponding myotome. Radiculopathies may be single or multiple (polyradiculopathy, e.g. cauda equina syndrome). There may be concurrent
   myelopathy, typically of extrinsic or extramedullary type. Most radiculopathies
   are in the lumbosacral region (60–90%), followed by the cervical region (5–30%).
   Electrophysiological studies may be helpful in distinguishing radiculopathy from
   a neuropathy or plexopathy: sensory nerve action potentials (SNAPs) are normal
   for intrathecal root lesions, and EMG shows involvement of paraspinal muscles.
   What are the causes of Radiculopathy?
   Recognized causes of radiculopathy include
   • Structural lesions:
   Compression: disc protrusion: cervical (especially C6, C7), lumbar
   (L5, S1) >>> thoracic; bony metastases; spondylolisthesis; fracture;
   infection;
   Root avulsion, e.g. C5/C6, ‘waiter’s tip’ posture; C8/T1, claw hand +/−
   Horner’s syndrome.
   • Diabetic polyradiculopathy: thoracoabdominal, lumbosacral (= diabetic
   amyotrophy, also known as diabetic lumbar sacral plexopathy, proximal
   diabetic neuropathy; especially involves L2–L4);
   • Neoplasia: with meningeal symptoms, due to spread from carcinoma of
   breast or lung, melanoma, non-Hodgkin’s lymphoma, leukaemia;
   • Infection: HIV (CMV late in the course), Borrelia (Lyme disease), syphilis
   (tabes dorsalis), herpes zoster (thoracic > cervical > lumbosacral; sensory

motor), leprosy;
• Demyelination: Guillain–Barré syndrome, chronic inflammatory demyelinating polyradiculopathy (CIDP).
What is the Lasegue sign?
A clinical sign of pressure on nerve roots in the lumbar region in SCIATICA. With the patient lying on his or her back there is limitation of thigh bending (flexion) on the affected side, on attempts to raise the straight leg. The sign can also be elicited by attempting to flex the ankle with the straight leg raised.
What is waiter’s tip hand or Erb s palsy?
An infant with Erb’s palsy may have a light grip in the hand on the affected area or no grip at all. Waiter’s Tip Posture. Since the affected arm hangs loosely and limp, bicep muscles can be damaged, and infants can take on what’s known as “waiter’s tip,” one of the most common physical symptoms of Erb’s palsy.
What is Raynaud’s Phenomenon?
Raynaud’s phenomenon consists of intermittent pallor or cyanosis, with or without suffusion and pain, of the fingers, toes, nose, ears, or jaw, in response to
cold or stress. It may be observed by asking the patient to put their hands in
cold water. Raynaud’s phenomenon may occur in Raynaud’s disease (idiopathic,
primary) or Raynaud’s syndrome (secondary, symptomatic). Recognized causes
include connective tissue disease, especially systemic sclerosis: cervical rib or thoracic outlet syndromes; vibration white finger; hypothyroidism; and uraemia.
Associated symptoms should be sought to ascertain whether there is an underlying connective tissue disorder (e.g. rash, arthralgia, myalgia, calcium deposits
in the skin, dysphagia). History of use of power tools should be sought (vibration white finger). The differential diagnosis includes causalgia.
What is the treatment of Raynaud’s Phenomenon?
For Raynaud’s syndrome, the treatment is that of the underlying cause where possible. For
Raynaud’s disease, and Raynaud’s syndrome where there is no effective treatment
of the underlying cause, non-drug treatment encompasses life style adjustment to
avoid precipitants and use of heated gloves. Drug therapy includes oral vasodilators (calcium channel blockers, ACE inhibitors), antioxidants (probucol), and
prostacyclin analogues (bolus, infusions). Beta-blockers should be avoided.
What is Rebound Phenomenon?
This is one feature of the impaired checking response seen in cerebellar disease,
along with dysdiadochokinesia and macrographia. It may be demonstrated by
observing an overshoot of the outstretched arms when they are released suddenly after being pressed down by the examiner or suddenly releasing the forearm
flexed against resistance so that it hits the chest (Stewart–Holmes sign). Although
previously attributed to hypotonia, it is more likely a reflection of asynergia
between agonist and antagonist muscles.
What is Vestibulo-ocular Reflexes?
The vestibule-ocular reflexes (VORs) are physiological mechanisms to generate
eye rotations that compensate for head movements, especially during locomotion, so stabilizing the retinal image on the fovea. VORs depend upon the
integrity of the connections between the semicircular canals of the vestibular system (afferent limb of reflex arc) and oculomotor nuclei in the brainstem (efferent
limb). Loss of vestibular function, as in acute bilateral vestibular failure, causes
gaze instability due to loss of VORs, causing the symptom of oscillopsia when the
head moves. As well as vestibular input, compensatory eye rotations may also be
generated in response to visual information (pursuit–optokinetic eye movements)
and neck proprioceptive information; anticipatory eye movements may also help
stabilize the retinal image.
VORs are also useful in assessing whether ophthalmoplegia results from a
supranuclear or infranuclear disorder, since in the former the restriction of eye
movement may be overcome, at least in the early stages, by the intact VOR,
e.g. the supranuclear gaze palsy in the vertical plane in progressive supranuclear
palsy.
VORs are difficult to assess in conscious patients because of concurrent
pursuit–optokinetic eye movements and because rotation of the head through
large angles in conscious patients leads to interruption of VORs by vestibular
nystagmus in the opposite direction (optokinetic nystagmus). The head impulse
test may be used to test VORs in conscious patients, for example, those with vertigo in whom vestibular failure is suspected. VOR may also be assessed using
a slow (0.5–1.0 Hz) doll’s head manoeuvre whilst directly observing the eyes
(‘catch up’ saccades may be seen in the absence of VOR), by measuring visual
acuity (dynamic visual acuity, or illegible E test; dropping two to three lines
on visual acuity with head movement vs. normal if VOR impaired), and by
ophthalmoscopy (optic disc moves with head if VOR abnormal).
In unconscious patients, slow phase of the VORs may be tested by rotating
the head and looking for contraversive conjugate eye movements (oculocephalic
responses, doll’s head eye movements) or by caloric testing. VORs are lost in
brainstem death.
Another important element of VOR assessment is suppression or cancellation of VOR by the pursuit system during combined head and eye tracking. VOR
suppression may be tested by asking the patient to fixate on their thumbs with
arms held outstretched whilst rotating at the trunk or sitting in a swivel chair.
VOR suppression can also be assessed during caloric testing: when the nystagmus ceases with fixation, removal of the fixation point (e.g. with Frenzel’s glasses)
will lead to recurrence of nystagmus in normals but not in those with reduced or
absent VOR suppression. VOR suppression is impaired (presence of nystagmus
even with slow head movements) in cerebellar and brainstem disease.
What is Vibration?
Vibratory sensibility (pallaesthesia) represents a temporal modulation of tactile
sense. On this ground, some would argue that the elevation of vibration to a ‘sensory modality’ is not justified. Vibratory sensibility is easily tested using a tuning
fork (128 Hz). This assesses the integrity of rapidly adapting mechanoreceptors
(Pacinian corpuscles) and their peripheral and central connections; the former
consist of large afferent fibres, the latter consist of ascending projections in both
the dorsal and lateral columns. The classification of both vibration and proprioception as ‘posterior column signs’, sharing spinal cord and brainstem pathways,
is common in neurological parlance (and textbooks) but questioned by some.
Instances of dissociation of vibratory sensibility and proprioception are well recognized, for instance the former is usually more impaired with intramedullary myelopathies.
Decrease in sensitivity of vibratory perception (increased perceptual threshold) is the most prominent age-related finding on sensory examination, thought to reflect distal degeneration of sensory axons.
What is the definition of myelopathy?
Myelopathy is any functional disturbance or pathological change in the spinal cord; often used to denote nonspecific lesions, as opposed to myelitis.
What are symptoms of myelopathy?
The symptoms of myelopathy depend on the type and the extent of the spinal problem.
Weakness, muscle spasms or contractions, and clumsiness
Neck, arm, leg, or low back pain
Difficulty with fine motor skills, including writing or tying shoes
Increased reflexes and development of abnormal reflexes in the arms or legs
Problems with walking
Bowel and bladder issues
Sexual dysfunction
What are causes of myelopathy?
There are several causes of myelopathy, with the highest risk factor for the condition being age. As people age, inflammation, arthritis, bone spurs, and spinal discs put pressure on the spinal cord and its nerve roots.
Myelopathy can either be acute or chronic. When the problem is acute, it comes on suddenly. Acute myelopathy can be caused by trauma to the spine or an infection to the spinal cord.
Chronic myelopathy develops over a long time period. It can be caused by a variety of diseases and conditions, including:
Rheumatoid arthritis
A tumour on or near the spinal cord
Spinal stenosis
A neurodegenerative disease, such as amyotrophic lateral sclerosis (ALS) or Parkinson’s disease
What is proprioception and why is it important?
Proprioception is very important to the brain as it plays a big role in self-regulation, coordination, posture, body awareness, the ability to attend and focus, and speech. It is the perception or awareness of the position and movement of the body.
What are the signs and symptoms of aging?
Some common signs and symptoms of aging include: Increased susceptibility to infection. Greater risk of heat stroke or hypothermia. Slight decrease in height as the bones of our spines get thinner and lose some height. Bones break more easily. Joint changes, ranging from minor stiffness to severe arthritis.
What is a point discrimination test?
Two-point discrimination test is performed with the points placed longitudinally onto the skin of the fingertips, with pressure just to the point of blanching. The force of the touch pressure is just to the point of blanching, in a longitudinal direction, perpendicular to the skin.
What is Visual Agnosia?
Visual agnosia is a disorder of visual object recognition. The term derives from
Freud (1891), but it was Lissauer (1890), speaking of seelenblindheit (psychic
blindness), who suggested the categorization into two types:
• Apperceptive visual agnosia:
A defect of higher-order visual perception leading to impaired shape
recognition, manifested as difficulty copying shapes or matching
shapes, despite preserved primary visual capacities, including visual
acuity and fields (adequate to achieve recognition), brightness discrimination, colour vision, and motion perception (indeed motion may
facilitate shape perception; see Riddoch’s phenomenon). Reading is
performed with great difficulty, with a ‘slavish’ tracing of letters which
is easily derailed by any irrelevant lines; such patients may appear blind.
• Associative visual agnosia:
An impairment of visual object recognition thought not to be due to
a perceptual deficit, since copying shapes of unrecognized objects is
good. The scope of this impairment may vary, some patients being limited to a failure to recognize faces (prosopagnosia) or visually presented
words (pure alexia, pure word blindness).
These terms continue to be used, although some authors (e.g. Critchley) have
taken the view that there is always some qualitative or quantitative disorder of
sight, and hence that to isolate subtypes is a ‘vain pursuit’.
Visually agnosic patients can recognize objects presented to other sensory
modalities. Clinically, apperceptive visual agnosia lies between cortical blindness
and associative visual agnosia.
Apperceptive visual agnosia results from diffuse posterior brain damage;
associative visual agnosia has been reported with lesions in a variety of locations,
usually ventral temporal and occipital regions, usually bilateral but occasionally
unilateral. Pathological causes include cerebrovascular disease, tumour, degenerative dementia (visual agnosia may on occasion be the presenting feature of
Alzheimer’s disease, the so-called visual variant, or posterior cortical atrophy),
and carbon monoxide poisoning. A related syndrome which has on occasion
been labelled as apperceptive visual agnosia is simultanagnosia, particularly the
dorsal variant in which there is inability to recognize more than one object
at a time. Associative visual agnosia has sometimes been confused with optic
aphasia.
What is Riddoch syndrome?
It, (also known as the Riddoch phenomenon) is a form of visual impairment often caused by lesions in the occipital lobe 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 Visual Disorientation?
Visual disorientation refers to the inability to perceive more than a fragment of
the visual field at any one time; it is sometimes characterized as a shifting fragment or island of clear vision. There may be difficulty fixating static visual stimuli
and impaired visual pursuit eye movements.
Visual disorientation may be demonstrated by sitting directly opposite to the
patient and asking them, whilst looking at the bridge of the examiner’s nose,
to reach for the examiner’s hand held up in the peripheral field of vision. Once
contact is made with the hand; the examiner holds up the other hand in a different part of the field of vision. Individuals with visual disorientation will find
it hard to see the hand and will grope for it, sometimes mistakenly grasping the
examiner’s clothing (‘tie sign’) or face.
What is Visual Extinction?
Visual extinction is the failure to respond to a novel or meaningful visual stimulus on one side when a homologous stimulus is given simultaneously to the
contralateral side (i.e. double simultaneous stimulation), despite the ability to
perceive each stimulus when presented singly.
What is Visual Field Defects?
Visual fields may be mapped clinically by confrontation testing. The most sensitive method is to use a small (5 mm) red pin, more so than a waggling finger.
Peripheral fields are tested by moving the target in from the periphery, and the
patient asked to indicate when the colour red becomes detectable, not when they
first see the pinhead. The central field may be mapped using the same target
presented statically to points within the central field.
The exact pattern of visual field loss may have localizing value due to the
retinotopic arrangement of fibres in the visual pathways: any unilateral area
of restricted loss implies a prechiasmatic lesion (choroid, retina, optic nerve),
although lesions of the anterior calcarine cortex can produce a contralateral
monocular temporal crescent. Bilateral homonymous scotomata are postchiasmal in origin; bilateral heteronymous scotomata may be seen with chiasmal
lesions. Topographically, typical visual field defects are as follows:
• Retina: monocular visual loss, altitudinal field defects; central or centrocaecal scotoma, ring scotoma;
• Optic nerve: central or centrocaecal scotoma; junctional scotoma of
Traquair;
• Optic chiasm: bitemporal hemianopia; junctional scotoma;
• Optic tract: homonymous hemianopia, usually incongruous;
• Lateral genciulate nucleus: homonymous hemianopia, usually incongruous;
• Optic radiations: homonymous hemianopia, usually congruous; quadrantanopia;
• Visual cortex: homonymous hemianopia, usually congruous; quadrantanopia; cortical blindness.
What is Visual Form Agnosia?
This name has been given to an unusual and a highly selective visual perceptual
deficit, characterized by loss of the ability to identify shape and form, although
colour and surface detail can still be appreciated, but with striking preservation of visuomotor control (i.e. a pattern of deficits inverse to those seen in
optic ataxia). This syndrome is thought to reflect selective damage to the ventral
(‘what’) stream of visual processing in the lateral occipital area, whilst the dorsal
(‘where’) stream remains intact, yet the workings of the latter are not available to
consciousness.
What is Visual Grasp Reflex?
A visual grasp reflex is a reflexive orientation to a novel or important visual stimulus, and it has its origin in the superior colliculi, a phylogenetically older visual system involved in orienting attention.
What is optic ataxia?
The term optic ataxia in the original German) was coined by Hungarian physician Rezso (Rudolf) Bálint in his 1909 report of a man with lesions of the posterior parietal lobe on both sides of the brain. Optic ataxia was one of several symptoms of a condition that later became known as Bálint syndrome.
What is Visual Perseveration?
Visual perseveration may refer to more than one unusual subjective visual
experience:
• Hallucinatory and recurring appearance of an object after its removal:
palinopsia (q.v.);
• Visual perseveration in sensu strictu, when a disappearing visual stimulus
does not fade from view; no recurrence as in palinopsia;
• Visual stimulus sensed over an unduly extensive area of environmental space:
visuospatial perseveration or illusory visual spread; rare; no temporal factor,
when the stimulus is removed the effect disappears.
What does perseveration mean?
Perseveration according to psychology, psychiatry, and speech-language pathology, is the repetition of a particular response (such as a word, phrase, or gesture) regardless of the absence or cessation of a stimulus.
What is perseveration in brain injury?
Perseveration is particularly common with those who have had traumatic brain injury. Perseveration is sometimes a feature of frontal lobe lesions, and of other conditions involving dysfunction or dysregulation within the frontal lobe.
What is the palpebral reflex?
The palpebral/corneal reflex is elicited by touching either the periocular skin (palpebral) or the cornea (corneal). This reflex is important to protecting the eye, and interference with it (e.g., facial paralysis, trigeminal palsy, local anesthesia) often results in severe ocular damage.
What is Vocal Tremor, Voice Tremor?
Vocal or voice tremor is a shaking, quivering, or quavering of the voice. It may
be heard in:
• Essential tremor;
• Cerebellar disorders;
• Spasmodic dysphonia/laryngeal dystonia;
• Parkinson’s disease;
• Motor neurone disease.
The pathophysiology is uncertain but may relate to rhythmic contractions of
the cricothyroid and rectus abdominis muscles.
What is Ptosis?
It is a term applied to drooping of the eyelid It can be unilateral or bilateral, complete or incomplete, acquired or congenital.
What is Lid lag?
means delay in moving the eyelid as the eye moves downwards. It is a common finding in thyroid disease when it is known as Graefe’s sign.
What is Von Graefe’s Sign?
Von Graefe’s sign, or Graefe’s sign, is the retarded descent of the upper eyelid during movement of the eye from the primary position to downgaze; the lid ‘follows’ the eye. This may be termed ‘lid lag’, although some authorities reserve this term for a static situation in which the lid is higher than the globe on downgaze.
Von Graefe’s sign may be seen in thyroid ophthalmopathy.
What is pseudo Graefe sign?
A pseudo Graefe’s sign (pseudo lid lag) shows a similar lag, but is due to aberrant regeneration of fibres of the oculomotor nerve (III) into the elevator of the upper lid. It occurs in paramyotonia congenita. A pseudo Graefe’s sign is most commonly manifested in just one eye but can occasionally be observed in both.
What is Vorbeireden?
Vorbeireden involves the inability to answer questions precisely, although the content of the questions is understood. Ganser syndrome is described as a dissociative disorder not otherwise specified (NOS) in t
What is Ganser phenomenon?
People with Ganser syndrome mimic behavior that is typical of a mental illness, such as schizophrenia. Ganser syndrome is sometimes called “prison psychosis ” because it was first observed in prisoners.
What is vestibulo-ocular reflex?
The vestibulo-ocular reflex (VOR) is a gaze stabilizing reflex: the sensory signals encoding head movements are transformed into motor commands that generate compensatory eye movements in the opposite direction of the head movement, thus ensuring stable vision.
What is the VOR response to a rapid passive head rotation?
The normal VOR response to a rapid, passive head rotation as a subject fixates on a central target is an equal and opposite eye movement that keeps the eyes stationary in space (negative h-HIT). This is sometimes referred to as a “VOR gain” equal to 1.0 (ratio of head rotation to eye rotation 1:1).
What is another way to test for VOR response?
Another way of testing the VOR response is a caloric reflex test, which is an attempt to induce nystagmus (compensatory eye movement in the absence of head motion) by pouring cold or warm water into the ear.
That is the Prévost sign?
The Prévost sign, also known as the Vulpian sign, refers to conjugate ocular deviation in patients with acute cortical hemiparetic stroke. The direction is variable, depending on the location of the stroke 3. In a hemispheric stroke, the eyes usually deviate towards the lesion (away from the hemiparesis).
What is Waddling Gait?
Weakness of the proximal leg and hip girdle muscles, most often of myopathic
origin, impairs the stability of the pelvis on the trunk during walking, leading
to exaggerated rotation with each step, an appearance likened to the waddling
of a duck. In addition, the hips may be slightly flexed and lumbar lordosis exaggerated. Neurogenic causes include spinal muscular atrophy and Guillain–Barré syndrome.
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 (Greek: myo- muscle + patheia -pathy: suffering). 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 are types of myopathis?
There are
Inherited myopathies
Endocrine myopathies
Inflammatory myopathies
Toxic myopathies
Inherited myopathies
Inherited myopathies are caused by a genetic defect. The most common muscular dystrophies, Duchenne and Becker muscular dystrophy, result from a genetic defect on the X chromosome.
Endocrine myopathies
Endocrine myopathies are caused by the over or underproduction of hormones. These conditions can develop in children and adults and usually respond well to treatment.
Steroid myopathy is the most common endocrine muscle disease. Steroid excess, whether caused by an adrenal gland disorder (e.g. Addison disease) or chronic administration of steroids, causes muscle weakness and wasting.
Hyperthyroid myopathy is caused by the thyroid gland producing too much thyroxine. Its symptoms include weakening and wasting of the muscles, especially in the shoulders and hips, and sometimes the eyes.
Hypothyroid myopathy is caused by the underproduction of thyroxine and results in muscle weakening in the legs and arms. The muscles may become enlarged.
Cushing’s disease, characterized by overproduction of hormones produced by the pituitary and adrenal glands, causes myopathy.
Excess parathyroid hormone results in hypercalcemia, which causes proximal muscle pain and weakness.
Hormone-secreting tumors can also cause endocrine disorders that cause myopathies.
Inflammatory myopathies
Inflammatory myopathies are autoimmune disorders (ie. the body’s immune system mistakenly attacks healthy tissue). In the case of myopathies, it attacks healthy muscle fibres and causes inflammation, which in turn damages the muscle.
Polymyositis (PM) causes muscle aches, cramping, and tenderness. The muscle weakness is severe and may fluctuate over weeks to months. It is often worse in the neck, arms, and thighs, making it difficult to stand up from a sitting position. Many patients also experience fever and loss of appetite.
Dermatomyositis (DM) is characterised by a skin rash as well as muscle symptoms of PM. The rash is a purple discoloration around the eyes and on the cheeks but may also appear on other parts of the body. Eventually the skin becomes thin and fragile. DM most commonly develops in children between the ages of 5 and 14 years.
Toxic myopathies
Toxic myopathies are caused by exposure to certain medications and chemicals. Excessive alcohol intake can also damage skeletal muscle. Drugs and chemicals that can cause myopathy include the following:
Anaesthetics (e.g. lidocaine, mepivacaine, ethyl chloride)
Cholesterol lowering medication (e.g. clofibrate, genfibrozil, lovastatin, simivastatin, niacin)
Glucocorticoids (e.g. triamcinolone, dexamethasone, betamethasone)
Narcotics (e.g. cocaine, heroin, meperidine)
Other drugs (e.g. zidovudine, D-penicillamine, procainamide, chloroquine, gallamine)
What is ‘Waiter’s Tip’ Posture?
Lesions of the upper trunk of the brachial plexus (Erb–Duchenne type) produce
weakness and sensory loss in the C5 and C6 distribution, typically with the arm
hanging at the side, internally rotated at the shoulder with the elbow extended
and the forearm pronated: the ‘waiter’s tip’ posture, also sometimes known as
the ‘porter’s tip’ or ‘policeman’s tip’.
What are psychiatric comorbidities in multiple sclerosis?
Patients newly diagnosed with multiple sclerosis (MS) often have other chronic medical conditions, with fibromyalgia, inflammatory bowel disease, and epilepsy being common physical comorbidities, and depression and bipolar disorder the most common psychiatric comorbidities, new research suggests.
Do specific illnesses damage specific tracts?
Several illnesses damage only specific ascending and descending spinal cord tracts. The posterior columns – fasciculus gracilis and fasciculus cuneatus – seem particularly vulnerable. For example, tabes dorsalis (syphilis), combined system degeneration (vitamin B12 deficiency) and the spinocerebellar ataxias (SCAs) each damages the posterior columns alone or in combination with other tracts. In these conditions, impairment of the posterior columns leads to a loss of position sense that prevents patients from being able to stand with their eyes closed (Romberg’s sign).
What are third cranial nerve disorders?
Third cranial nerve disorders can impair ocular motility, pupillary function, or both. Symptoms and signs include diplopia, ptosis, and paresis of eye adduction and of upward and downward gaze. If the pupil is affected, it is dilated, and light reflexes are impaired. If the pupil is affected or patients are increasingly unresponsive, CT is done as soon as possible.
What is the aetiology of third cranial nerve disorders?
Third cranial (oculomotor) nerve disorders that cause palsies and affect the pupil commonly result from aneurysms (especially of the posterior communicating artery) and transtentorial brain herniation (see Coma and Impaired Consciousness: Brain herniation.) and less commonly from meningitis affecting the brain stem (eg, TB meningitis). The most common cause of palsies that spare the pupil, particularly partial palsies, is ischemia of the 3rd cranial nerve (usually due to diabetes or hypertension) or of the midbrain. Occasionally, a posterior communicating artery aneurysm causes complete oculomotor palsy and spares the pupil.
What are the Symptoms and Signs of third cranial nerve disorders?
Diplopia and ptosis (drooping of the upper eyelid) occur. The affected eye may deviate slightly out and down in straight-ahead gaze; adduction is slow and may not proceed past the midline. Upward gaze is impaired. When downward gaze is attempted, the superior oblique muscle causes the eye to adduct slightly and rotate. The pupil may be normal or dilated; its response to direct and to consensual light may be sluggish or absent (efferent defect). Mydriasis (pupil dilation) may be an early sign.
What is the differential diagnosis of third cranial nerve disorders?
Differential diagnosis includes midbrain lesions that disrupt the oculomotor fascicle (Claude syndrome, Benedict syndrome), leptomeningeal tumour or infection, cavernous sinus disease (giant carotid aneurysm, fistula, or thrombosis), infraorbital structural lesions (eg, orbital mucormycotic) that restrict ocular motility, ocular myopathies (eg, due to hyperthyroidism or mitochondrial disorders), and disorders of the neuromuscular junction (eg, due to myasthenia gravis or botulism). Differentiation may be clinical. Exophthalmos or enophthalmos, a history of severe orbital trauma, or an obviously inflamed orbit suggests an infraorbital structural disorder. Graves orbitopathy (ophthalmopathy) should be considered in patients with bilateral ocular paresis, paresis of upward gaze or abduction, exophthalmos, lid retraction, lid lag during downward gaze (Graefe sign), and a normal pupil.
CT or MRI is required. If a patient has a dilated pupil and a sudden, severe headache (suggesting ruptured aneurysm) or is increasingly unresponsive (suggesting herniation), CT is done immediately. If ruptured aneurysm is suspected and CT does not show blood or is not available rapidly, other tests, such as lumbar puncture, magnetic resonance angiography, CT angiography, or cerebral angiography, are indicated. Cavernous sinus disease and orbital mucormycosis require immediate MRI imaging for timely treatment.
What are fourth cranial nerve disorders?
Fourth cranial nerve palsy impairs the superior oblique muscle, causing paresis of vertical gaze, mainly in adduction.
Fourth cranial (trochlear) nerve palsy is often idiopathic. Few causes have been identified. Causes include closed head injury (common), which may cause unilateral or bilateral palsies, and infarction due to small-vessel disease (e.g., in diabetes). Rarely, this palsy results from aneurysms, tumours (e.g., tentorial meningioma, pinealoma), or multiple sclerosis.
Because the superior oblique muscle is paretic, the eyes do not adduct normally. Patients see double images, one above and slightly to the side of the other; thus, going down stairs, which requires looking down and inward, is difficult. However, tilting the head to the side opposite the palsied muscle can compensate and eliminate the double images.
Examination may detect subtle impaired ocular motility, causing symptoms but not signs.
Oculomotor exercises or prism glasses may help restore concordant vision.
What are Sixth cranial nerve disorders?
Sixth cranial nerve palsy affects the lateral rectus muscle, impairing eye abduction. The eye may be slightly adducted when the patient looks straight ahead. The palsy may be secondary to nerve infarction, Wernicke encephalopathy, trauma, infection, or increased intracranial pressure, or it may be idiopathic. Determining the cause requires MRI and often lumbar puncture and evaluation for vasculitis.
What is the aetiology of Sixth cranial nerve disorders?
Sixth cranial (abducens) nerve palsy may result from small-vessel disease, particularly in diabetics as part of a disorder called mononeuritis multiplex (multiple mononeuropathy). It may result from compression of the nerve by lesions in the cavernous sinus (e.g., nasopharyngeal tumours), orbit, or base of the skull. The palsy may also result from increased intracranial pressure, head trauma, or both. Other causes include meningitis, meningeal carcinomatosis, Wernicke encephalopathy, aneurysm, vasculitis, multiple sclerosis, pontine stroke, and, rarely, low CSF pressure headache (e.g., after lumbar puncture). Children with respiratory infection may have recurrent palsy. However, the cause of an isolated 6th cranial nerve palsy is often not identified.
What is the Symptoms and Signs of Sixth cranial nerve disorders?
Symptoms include binocular horizontal diplopia when looking to the side of the paretic eye. Because the tonic action of the medial rectus muscle is unopposed, the eye is slightly adducted when the patient looks straight ahead. The eye abducts sluggishly, and even when abduction is maximal, the lateral sclera is exposed. With complete paralysis, the eye cannot abduct past midline.
Palsy resulting from nerve compression by a haemorrhage (e.g., due to head trauma or intracranial bleeding), a tumour, or an aneurysm in the cavernous sinus causes severe head pain, chemosis (conjunctival oedema), anaesthesia in the distribution of the 1st division of the 5th cranial nerve, optic nerve compression with vision loss, and paralysis of the 3rd, 4th, and 6th cranial nerves. Both sides are typically affected, although unevenly.
Diagnosis
MRI
If vasculitis is suspected, ESR, antinuclear antibodies, and rheumatoid factor
A 6th nerve palsy is usually obvious, but the cause is not. If retinal venous pulsations are seen during ophthalmoscopy, increased intracranial pressure is unlikely. CT is often done because it is often immediately available. However, MRI is the test of choice; MRI provides greater resolution of the orbits, cavernous sinus, posterior fossa, and cranial nerves. If imaging results are normal but meningitis or increased intracranial pressure is suspected, lumbar puncture is done.
If vasculitis is suspected clinically, evaluation begins with measurement of ESR, antinuclear antibodies, and rheumatoid factor. In children, if increased intracranial pressure is excluded, respiratory infection is considered.
What is the Treatment of Sixth cranial nerve disorders?
In many patients, 6th cranial nerve palsies resolve once the underlying disorder is treated. Idiopathic palsy usually abates within 2 mo.
What is 7TH CN palsy?
Facial nerve (7th cranial nerve) palsy is often idiopathic (formerly called Bell palsy). Idiopathic facial nerve palsy is sudden, unilateral peripheral facial nerve palsy. Symptoms of facial nerve palsy are hemifacial paresis of the upper and lower face. Tests (eg, chest x-ray, serum ACE level) are done to diagnose treatable causes. Treatment may include lubrication of the eye, intermittent use of an eye patch, and, for idiopathic facial nerve palsy, corticosteroids.
What is Aetiology of Facial nerve (7th cranial nerve) palsy?
Historically, Bell palsy was thought to be idiopathic facial nerve (peripheral 7th cranial nerve) palsy. However, facial nerve palsy is now considered a clinical syndrome with its own differential diagnosis, and the term “Bell palsy” is not always considered synonymous with idiopathic facial nerve palsy. About half the cases of facial nerve palsy are idiopathic. The mechanism for idiopathic facial nerve palsy is presumably swelling of the facial nerve due to an immune or viral disorder. Recent evidence suggests that herpes simplex virus infection is the most common cause and that herpes zoster may be the second most common viral cause. Other viral causes include coxsackievirus, cytomegalovirus, adenovirus, and the Epstein-Barr, mumps, rubella, and influenza B viruses. The swollen nerve is maximally compressed as it passes through the labyrinthine portion of the facial canal, resulting in ischemia and paresis.
Various other disorders (e.g., Lyme disease, sarcoidosis) can cause facial nerve palsy.
What is the Pathophysiology of Facial nerve (7th cranial nerve) palsy?
The upper facial muscles are innervated primarily by the peripheral nervous system via the facial nerve; however, the lower facial muscles are innervated by both the facial nerve (peripheral nervous system) and the ipsilateral cerebral hemisphere (CNS). Thus, when the lesion is central or supranuclear (eg, in stroke), the lower face is typically affected more than the upper face. In contrast, when the lesion is peripheral (involving the facial nerve nucleus and/or the facial nerve), the upper and lower face are affected equally.
What are the Symptoms and Signs of Facial nerve (7th cranial nerve) palsy?
Pain behind the ear often precedes facial paresis in idiopathic facial nerve palsy. Paresis, often with complete paralysis, develops within hours and is usually maximal within 48 to 72 h. Patients may report a numb or heavy feeling in the face. The affected side becomes flat and expressionless; the ability to wrinkle the forehead, blink, and grimace is limited or absent. In severe cases, the palpebral fissure widens and the eye does not close, often irritating the conjunctiva and drying the cornea.
Sensory examination is normal, but the external auditory canal and a small patch behind the ear (over the mastoid) may be painful to the touch. If the nerve lesion is proximal to the geniculate ganglion, salivation, taste, and lacrimation may be impaired, and hyperacusis may be present.
Seventh Cranial Nerve Palsy, Peripheral
What is the differential diagnosis of Facial nerve (7th cranial nerve) palsy?
Clinical evaluation
Chest x-ray and serum ACE levels to check for sarcoidosis
MRI if onset was gradual or other neurologic deficits are present
Other testing if indicated by clinical findings
Facial nerve palsy is diagnosed based on clinical evaluation. There are no specific diagnostic tests. Facial nerve palsy can be distinguished from a central facial nerve lesion (e.g., due to hemispheric stroke or tumour), which causes weakness primarily of the lower face, sparing the forehead muscle and allowing patients to wrinkle their forehead; also, patients with central lesions can usually furrow their brow and close their eyes tightly.
What are the other disorders that cause peripheral facial nerve palsies?
They are –
Geniculate herpes (Ramsay Hunt syndrome, which is due to herpes zoster)
Middle ear or mastoid infections
Sarcoidosis
Lyme disease
Petrous bone fractures
Carcinomatous or leukemic nerve invasion
Chronic meningitis
Cerebellopontine angle or glomus jugulare tumours
Diabetes
The other disorders that cause peripheral facial nerve palsy typically develop more slowly than idiopathic facial nerve palsy and may have other distinguishing symptoms or signs. Thus, if patients have any other neurologic symptoms or signs or if symptoms developed gradually, MRI should be done.
In idiopathic facial nerve palsy, MRI may show contrast enhancement of the facial nerve at or near the geniculate ganglion or along the entire course of the nerve. However, its enhancement may reflect other causes, such as meningeal tumour. If the paralysis progresses over weeks to months, the likelihood of a tumour (e.g., most commonly schwannoma) compressing the facial nerve increases. MRI can also help exclude other structural disorders causing facial nerve palsy. CT, usually negative in Bell palsy, is done if a fracture is suspected or if MRI is not immediately available and stroke is possible.
In addition, acute and convalescent serologic tests for Lyme disease are done if patients have been in a geographic area where ticks are endemic. For all patients, a chest x-ray is taken and serum ACE is measured to check for sarcoidosis. Serum glucose is measured. Viral titres are not helpful.
What is the prognosis of seventh nerve palsy?
in idiopathic facial nerve palsy, the extent of nerve damage determines outcome. If some function remains, full recovery typically occurs within several months. Nerve conduction studies and electromyography are done to help predict outcome. The likelihood of complete recovery after total paralysis is 90% if nerve branches in the face retain normal excitability to supramaximal electrical stimulation and is only about 20% if electrical excitability is absent.
Regrowth of nerve fibres may be misdirected, innervating lower facial muscles with periocular fibres and vice versa. The result is contraction of unexpected muscles during voluntary facial movements (synkinesia) or crocodile tears during salivation. Chronic disuse of the facial muscles may lead to contractures.
What is the treatment of Facial nerve (7th cranial nerve) palsy?
Supportive measures
Corticosteroids for idiopathic facial nerve palsy
Corneal drying must be prevented by frequent use of natural tears, isotonic saline, or methylcellulose drops and by intermittent use of tape or a patch to help close the eye, particularly during sleep. Tarsorrhaphy is occasionally required.
In idiopathic facial nerve palsy, corticosteroids, if begun within 48 h after onset, result in faster and more complete recovery. Prednisone 60 to 80 mg po once/day is given for 1 wk., then decreased gradually over the 2nd wk. Antiviral drugs effective against herpes simplex virus (e.g., valacyclovir 1 g po tid for 7 to 10 days, famciclovir 500 mg po tid for 5 to 10 days, acyclovir 400 mg po 5 times/day for 10 days) have been prescribed, but recent data suggest that antiviral drugs provide no benefit.
What are the Key Points of Facial nerve (7th cranial nerve) palsy?
In facial nerve palsy, patients cannot move the upper and lower part of their face on one side; in contrast, central facial nerve lesions (e.g., due to stroke) affect primarily the lower face.
Cause of idiopathic facial nerve palsy is unclear, but evidence is increasingly implicating herpes viruses.
Diagnosis is clinical, but if onset is not clearly acute, MRI should be done.
If given early, corticosteroids are helpful for idiopathic facial nerve palsy; antivirals probably provide no benefit.
What are Autonomic Neuropathies?
Autonomic neuropathies are peripheral nerve disorders with disproportionate involvement of autonomic fibres.
The best-known autonomic neuropathies are those accompanying peripheral neuropathy due to diabetes, amyloidosis, or autoimmune disorders. Autoimmune autonomic neuropathy is an idiopathic disorder that often develops after a viral infection; onset may be subacute. Autonomic insufficiency is usually a late manifestation in alcoholic neuropathy.
Common symptoms of autonomic neuropathies include orthostatic hypotension, neurogenic bladder, erectile dysfunction, gastroparesis, and intractable constipation. When somatic fibres are involved, sensory loss in a stocking-and-glove distribution and distal weakness may occur (see also Peripheral Nervous System and Motor Unit Disorders).
What is diagnosis and Clinical evaluation of Autonomic Neuropathies?
Diagnosis is based on demonstration of autonomic failure (see Autonomic Nervous System: Evaluation) and of a specific cause of neuropathy (e.g., diabetes, amyloidosis). Autoimmune autonomic neuropathy may be suspected after a viral infection. Ganglionic anti–acetylcholine receptor antibody A3 is present in about one half of patients with autoimmune autonomic neuropathy and is occasionally present in patients with other autonomic neuropathies.
What is the treatment Autonomic Neuropathies?
Underlying disorders are treated. Autoimmune autonomic neuropathy may respond to immunotherapy; plasma exchange or IV γ-globulin can be used for more severe cases.
What is Carotid artery disease?
The term stroke encapsulates the potentially devastating consequences when blood supply to the brain is disrupted. There are two main types of stroke:
▪ Ischaemic stroke due to inadequate blood supply, usually by embolization from or occlusion of an artery that supplies the brain.
▪ Haemorrhagic stroke due to bleeding from a ruptured cerebral blood vessel in the brain.
More than 40,000 Australians each year experience a stroke, nearly a third of which are fatal. Another third of patients who suffer a stroke will be left with significant neurological deficit, making up almost one in four of Australia’s chronic disabled population. The already considerable economic impact of stroke is likely to rise with Australia’s ageing population.
Unlike cellular recovery after liver injury, dead neurons in the brain cannot regenerate. There is therefore an increasing emphasis on the emergency nature of impending stroke so that intervention can be undertaken before irreversible cerebral damage occurs. Like ‘heart attack’ the concept of ‘brain attack’ has arisen.
The four major arteries that supply the brain are the vertebral arteries originating from the subclavian arteries forming the basilar artery and supplying the posterior cerebral circulation and the internal carotid arteries. These arise from the carotid bifurcation in the neck and lead onto the middle cerebral arteries, the most important branches in the anterior cerebral circulation. The Circle of Willis provides potential communication between the anterior and posterior cerebral circulations but may be inadequate to fully compensate for an occluded internal carotid artery in about 20% of individuals.
What are the Risk factors for stroke?
Stroke arising from extra-cranial arterial disease is most likely to occur when there is a high grade (>70%) stenosis of the internal carotid artery, particularly if there have been recent transient ischaemic attacks (TIAs).
Risk factors for stroke include high blood pressure, tobacco smoking, heavy alcohol consumption, high cholesterol, obesity, diabetes and insufficient physical activity. Hypertension is associated with both ischaemic and haemorrhagic stroke. Improved medical management of high blood pressure has contributed to the decreasing incidence of stroke (Management algorithm presentation). Carotid stenosis occurs more frequently in patients who have co-existent coronary artery disease or lower extremity peripheral arterial disease.
Embolic stroke is most likely in patients with atrial fibrillation or after an acute myocardial infarction.
What is the Clinical presentation of Carotid artery disease?
Extracranial cerebrovascular disease may be either symptomatic or clinically silent. This will depend on whether the carotid plaque is affecting blood flow or embolising and on the sensitivity of the affected part of the brain. Symptoms will depend on whether the anterior (carotid) or posterior (vertebrobasilar) circulations are involved. The left hemisphere, largely supplied by the anterior circulation, is usually dominant in a right-handed person, so emboli to the left cerebral hemisphere are more likely to result in disabling symptoms.
Asymptomatic
A bruit in the neck may indicate asymptomatic extracranial arterial disease. It is important to distinguish between bruits arising from the heart or great vessels and bruits due to turbulence at the carotid bifurcation, which are loudest in the neck. A carotid bruit is a poor marker of internal carotid stenosis and is probably a better guide to the presence of general atherosclerosis, particularly coronary artery disease. Only about a third of patients with a carotid bruit will have a significant stenosis of their internal carotid artery and a bruit is rarely present with the most severe stenosis (>90%) because of reduced blood flow.
An asymptomatic internal carotid stenosis is an occasional incidental finding on duplex ultrasound scanning.
Symptomatic
All the major clinical trials have confirmed that the likelihood of symptoms and stroke is directly related to the severity of internal carotid stenosis. Micro emboli from carotid plaque induce a transient cerebral ischaemia in either the carotid (anterior) or vertebrobasilar (posterior) circulation. Symptoms may occur as an isolated event or may recur or progress to a major stroke.
What is the management of Carotid artery disease?
Look for asymptomatic bruit
Check for co-existent coronary artery disease
Carotid duplex scan
60% internal carotid stenosis, consider carotid endarterectomy
Symptomatic
TIAs
Carotid duplex scan
60% internal carotid stensois
If patient fit
carotid endarterectomy
If patient unfit
Consider carotid stenting
Correction of underlying risk factors
Evolving stroke
CT scan/MRI
Intracranial haemorrhage
Ischaemic stroke
Heparinise
Investigate for cardiac embolic source
ECG
Cardiac echography
Investigate for extra-cranial arterial disease
Carotid duplex scan
MRI
CT angiography
What is Transient ischaemic attacks?
A TIA is a reversible neurological deficit that resolves in 24 hours, but is usually briefer, lasting for less than 15 minutes and resolving without a persistent neurological deficit. Classical carotid (anterior circulation) TIAs involve ipsilateral retinal ischaemia manifest as amaurosis fugax (fleeting blindness) described as a curtain coming down over the eye. Cholesterol emboli (Hollenhorst plaques) and fibrin-platelet emboli (Fisher plugs) can be seen on fundoscopy in the retinal arteries, and both are strongly indicative of ulcerative atheromatous disease of the carotid arteries, particularly at the carotid bifurcation in the neck.
Motor and sensory symptoms involve the contralateral limbs because of the crossover of the major motor and sensory neural pathways. The symptoms and signs are focal and may be motor, with weakness, paralysis, poor function, or clumsiness in one or both extremities. There may be sensory symptoms, with numbness or paraesthesias affecting one or both extremities on the same side. Dysphasia with speech disturbance is common, particularly when the dominant hemisphere is affected (usually the left in a right-handed individual).
When the vertebrobasilar system is involved, the symptoms are less specific but may affect both sides of the body, with bilateral visual disturbance. Symptoms such as ataxia, imbalance, unsteadiness and vertigo can also be caused by middle ear disorders or bradycardia causing the patient to collapse (Stokes Adams attacks).
Headache more commonly occurs with intracranial haemorrhage, migraine or a space-occupying neoplasm.
Clinical examination will often fail to reveal any neurological deficit but there may be a bruit in the neck. This condition is one diagnosed on history and should prompt further investigation to define the state of the extracranial blood vessels.
What is Stroke in evolution/complete stroke?
If the neurological deficit fluctuates and a progressive motor or sensory deficit is evident, then a stroke-in evolution, potentially leading to a complete stroke, should be suspected. This is a medical emergency, requiring prompt neurological evaluation.
What are the Investigations for Stroke in evolution/complete stroke?
In a patient who presents with focal neurological symptoms investigations are needed to determine the cause, particularly whether cerebral infarction or haemorrhage has occurred and if there is correctible extra-cranial arterial disease responsible.
With the advent of CT and carotid duplex scanning it has become easier to define those patients who are likely to have hemispheric neurological symptoms on a potentially correctible basis of thromboembolic phenomenon arising from the carotid bifurcation.
General medical evaluation includes cardiovascular evaluation with blood pressure measurement to detect hypertension and electrocardiography to assess any cardiac rhythm disturbance like atrial fibrillation or evidence of co-existent coronary artery disease. Haematological disorders such as polycythaemia, leukaemia or coagulopathies can cause stroke and should be sought. Similarly, renal function, lipid and glucose levels are measured to exclude renal failure, hyperlipidaemia and diabetes respectively.
CT scanning or MRI will identify intracranial blood if a haemorrhagic stroke has occurred and will demonstrate cerebral infarction or space-occupying lesions such as a brain tumour. Although sophisticated 3-D reconstruction of the extracranial vasculature can be done with both MRI and CT, these are usually not the first-line investigations to assess the carotid arteries.
Duplex ultrasound is used in most centres as the initial diagnostic test to evaluate the carotid arteries and used as the definitive investigation by many vascular surgeons in planning carotid endarterectomy. Duplex ultrasound is operator-dependent but in good hands can show the morphology of the carotid bifurcation and accurately identify the degree of stenosis present (Carotid duplex scan showing turbulent flow at the origin of the internal carotid artery with a peak systolic velocity of 571.5 cm/s and an endiastoic velocity of 198.5 cm/s indicating more than 80% stenosis of the artery.).
Carotid duplex scan showing turbulent flow at the origin of the internal carotid artery with a peak systolic velocity of 571.5 cm/s and an endiastoic velocity of 198.5 cm/s indicating more than 80% stenosis of the artery.
Carotid angiography, considered the diagnostic gold standard, is now used more selectively, particularly if the ultrasound findings are uncertain, or if the major aortic arch branches need to be imaged in planning carotid stenting (Carotid angiogram showing more than 80% stenosis at the origin of the internal carotid artery.).
Carotid angiogram showing more than 80% stenosis at the origin of the internal carotid artery.
What is the treatment of Carotid artery disease?
Optimal medical control of risk factors, in particular hypertension and smoking, have significantly reduced the risk of stroke and remains the most important part of overall management. Anti-platelet aggregate therapy, usually with aspirin, will help prevent recurrent TIAs but does not reduce the risk of stroke. There are defined sub-groups of patients who will benefit from surgery or endovascular intervention to remove an identified embolic source or improve cerebral blood flow. Age should not preclude treatment that would otherwise be indicated. Fortuitously, the carotid bifurcation is the commonest site for extra-cranial stenotic disease, as it is surgically accessible unlike the aortic arch branches or vertebral arteries that pose more complex treatment problems.
Two major clinical trials have confirmed the clear advantage of surgery over best medical management for patients with recent TIAs associated with a high-grade (>70% angiographic diameter reducing) stenosis of the relevant internal carotid artery.
What is Carotid endarterectomy?
The carotid bifurcation is exposed in the neck and, after heparinisation, the carotid arteries are clamped so that artery can be opened to core out the atherosclerotic plaque (After the carotid arteries are clamped, the plaque (A) is removed (B) and the arteriotomy closed either primarily or with a patch (C).). There is a plane between the diseased portion of the carotid artery and the outer media so that a smooth surface can be restored to the artery. A patch is often used to close the artery to ensure a widely patent lumen and to decrease the risk of re-stenosis. A shunt is occasionally used during carotid surgery to maintain cerebral blood flow if the cerebral collateral circulation is judged inadequate. Occasionally a bypass procedure is needed to restore cerebral perfusion; for example, an occluded common carotid artery can be treated by a bypass from the subclavian artery to the internal carotid artery. After the carotid arteries are clamped, the plaque is removed and the arteriotomy closed either primarily or with a patch .
What is Carotid stenting?
Carotid stenting is a more recent technical advance and remains a controversial aspect of carotid therapy. Carotid angioplasty has for some time been the therapy of choice for symptomatic fibromuscular dysplasia, a relatively rare condition occurring in less than 3% of patients with symptomatic carotid arterial disease. There has been continuing improvement in the reported results of balloon dilatation and stenting for atherosclerotic carotid arterial disease. The proposed benefit of carotid artery stenting is that an anaesthetic can be avoided as can the neck incision and risk of cranial nerve injury. However, there have been concerns about a higher risk of peri-procedural cerebral embolization and stroke and late recurrent stenosis. The risk of peri-procedural stroke has been reduced with cerebral protection devices, designed to catch embolic material before it can pass into the brain.
Controlled clinical trials should resolve the relative merits of carotid stenting and endarterectomy. Until that time, carotid endarterectomy is the established intervention for high-risk patients with high-grade symptomatic internal carotid stenosis.
Angioplasty and stenting is usually indicated to treat subclavian artery stenosis or occlusion causing subclavian steal.
What are cerebellar disorders?
Cerebellar disorders have numerous causes, including congenital malformations, hereditary ataxias, and acquired conditions. Symptoms vary with the cause but typically include ataxia (impaired muscle coordination). Diagnosis is clinical and often by imaging and sometimes genetic testing. Treatment is usually supportive unless the cause is acquired and reversible.
The cerebellum has 3 parts:
Archicerebellum (vestibulocerebellum): It includes the flocculo-nodular lobe, which is located in the medial zone. It helps maintain equilibrium and coordinate eye, head, and neck movements; it is closely interconnected with the vestibular nuclei.
Midline vermis (paleocerebellum): It helps coordinate trunk and leg movements. Vermis lesions result in abnormalities of stance and gait.
Lateral hemispheres (neocerebellum): They control quick and finely coordinated limb movements, predominantly of the arms.
What are the manifestations of cerebellar disorders?
There is growing consensus that, in addition to coordination, the cerebellum controls some aspects of memory, learning, and cognition.
Ataxia is the archetypal sign of cerebellar dysfunction, but many other motor abnormalities may occur
Ataxia
Reeling, wide-based gait
Decomposition of movement
Inability to correctly sequence fine, coordinated acts
Dysarthria
Inability to articulate words correctly, with slurring and inappropriate phrasing
Dysdiadochokinesia
Inability to perform rapid alternating movements
Dysmetria
Inability to control range of movement
Hypotonia
Decreased muscle tone
Nystagmus
Involuntary, rapid oscillation of the eyeballs in a horizontal, vertical, or rotary direction, with the fast component maximal toward the side of the cerebellar lesion
Scanning speech
Slow enunciation with a tendency to hesitate at the beginning of a word or syllable
Tremor
Rhythmic, alternating, oscillatory movement of a limb as it approaches a target (intention tremor) or of proximal musculature when fixed posture or weight bearing is attempted (postural tremor)
What is the types of cerebellar disorders?
Congenital malformations: Such malformations are almost always sporadic, often occurring as part of complex malformation syndromes (eg, Dandy-Walker malformation) that affect other parts of the CNS. Malformations manifest early in life and are nonprogressive. Manifestations vary markedly depending on the structures involved; ataxia is usually present.
Hereditary ataxias: Hereditary ataxias may be autosomal recessive or autosomal dominant. Autosomal recessive ataxias include Friedreich’s ataxia (the most prevalent), ataxia-telangiectasia, abetalipoproteinemia, ataxia with isolated vitamin E deficiency, and cerebrotendinous xanthomatosis.
Friedreich’s ataxia results from a gene mutation causing abnormal repetition of the DNA sequence GAA in the gene that codes for the mitochondrial protein frataxin. Decreased frataxin levels lead to mitochondrial iron overload and impaired mitochondrial function. Gait unsteadiness begins between ages 5 and 15; it is followed by upper-extremity ataxia, dysarthria, and paresis, particularly of the lower extremities. Mental function often declines. Tremor, if present, is slight. Reflexes and vibration and position senses are lost. Talipes, scoliosis, and progressive cardiomyopathy are common.
Spinocerebellar ataxias (SCAs) are the main autosomal dominant ataxias. Classification of these ataxias has been revised many times recently as knowledge about genetics increases. Currently, at least 28 different gene loci are recognized; at least 10 involve expanded DNA sequence repeats. Some involve a repetition of the DNA sequence CAG that codes for the amino acid glutamine, similar to that in Huntington’s disease. Manifestations vary. Some of the most common SCAs affect multiple areas in the central and peripheral nervous systems; neuropathy, pyramidal signs, and restless leg syndrome, as well as ataxia, are common. Some SCA usually cause only cerebellar ataxia. SCA3, formerly known as Machado-Joseph disease, may be the most common dominantly inherited SCA. Symptoms include ataxia and possibly dystonia, facial twitching, ophthalmoplegia, and peculiar bulging eyes.
Acquired conditions: Acquired ataxias may result from nonhereditary neurodegenerative disorders systemic disorders, or toxin exposure, or they may be idiopathic. Systemic disorders include alcoholism (alcoholic cerebellar degeneration), celiac sprue, hypothyroidism, and vitamin E deficiency. Toxins include carbon monoxide, heavy metals, lithium, phenytoin, and certain solvents.
In children, primary brain tumors (medulloblastoma, cystic astrocytoma) may be the cause; the midline cerebellum is the most common site of such tumors. Rarely, in children, reversible diffuse cerebellar dysfunction follows viral infections.
What is the clinical evaluation of cerebellar disorders?
Diagnosis is clinical and includes a thorough family history and search for acquired systemic disorders. Neuroimaging, typically MRI, is done. Genetic testing is done if family history is suggestive.
What is the treatment of cerebellar disorders?
Some systemic disorders (eg, hypothyroidism, celiac sprue) and toxin exposure can be treated; occasionally, surgery for structural lesions (tumour, hydrocephalus) is beneficial. However, treatment is usually only supportive.
What are movement disorders?
Voluntary movement requires interaction of the corticospinal (pyramidal) tracts, basal ganglia, and cerebellum (the centre for motor coordination). The pyramidal tracts pass through the medullary pyramids to connect the cerebral cortex to lower motor centres of the brain stem and spinal cord. The basal ganglia (caudate nucleus, putamen, globus pallidus, subthalamic nucleus, and substantia nigra) form the extrapyramidal system. They are located deep in the forebrain and direct their output mainly rostrally through the thalamus to the cerebral cortex. Most neural lesions that cause movement disorders occur in the extrapyramidal system; thus, movement disorders are also called extrapyramidal disorders.
What is Chorea, Athetosis, and Hemiballismus?
Chorea is nonrhythmic, jerky, rapid, no suppressible involuntary movements, mostly of distal muscles or the face; movements may merge imperceptibly into purposeful or semi purposeful acts that mask the involuntary movements.
Athetosis is nonrhythmic, slow, writhing, sinuous movements predominantly in distal muscles, often alternating with postures of the proximal limbs to produce a continuous, flowing stream of movement. Hemiballismus is usually a unilateral, nonrhythmic, rapid, no suppressible, violent, flinging movement of the proximal arm.
Chorea and athetosis often occur together (as choreoathetosis). They are manifestations of overactivity in certain pathways of the basal ganglia. Huntington’s disease (see Movement and Cerebellar Disorders: Huntington’s Disease) is the most common degenerative disease-causing chorea. Other causes include thyrotoxicosis, paraneoplastic syndromes, SLE affecting the CNS, other autoimmune disorders, and drugs (e.g., antipsychotics). Rheumatic fever sometimes leads to Sydenham’s chorea. A tumour or infarct of the caudate nucleus can cause acute unilateral chorea (hemichorea). Chorea may occur as an isolated symptom in patients > 60 (as senile chorea); this chorea tends to be symmetric and does not cause dementia.
The cause is treated or corrected if possible. Sydenham’s chorea and chorea due to infarcts of the caudate nucleus often lessen over time. Chorea due to thyrotoxicosis usually lessens when thyroid dysfunction is corrected. In Huntington’s disease, drugs that suppress dopaminergic activity, such as antipsychotics (e.g., risperidone), and dopamine -depleting drugs (e.g., reserpine, tetrabenazine) can be used. However, improvement may be limited.
Chorea gravidarum occurs during pregnancy, often in patients who had rheumatic fever. Chorea usually begins during the 1st trimester and resolves spontaneously by or after delivery. Treatment is sedation with barbiturates; other sedatives may harm the foetus. Rarely, a similar disorder occurs in women taking oral contraceptives.
Hemiballismus is caused by a lesion, usually an infarct, around the contralateral subthalamic nucleus. Although disabling, hemiballismus is usually self-limited, lasting 6 to 8 wk. Treatment with antipsychotics is often effective.
What is Coma?
Coma is unresponsiveness from which the patient cannot be aroused. Impaired consciousness refers to similar, less severe disturbances of consciousness; these disturbances are not considered coma. The mechanism for coma or impaired consciousness involves dysfunction of both cerebral hemispheres or of the reticular activating system (also known as the ascending arousal system). Causes may be structural or non-structural (e.g., toxic or metabolic disturbances). Damage may be focal or diffuse. Diagnosis is clinical; identification of cause usually requires laboratory tests and neuroimaging. Treatment is immediate stabilization and specific management of the cause. For long-term coma, adjunctive treatment includes passive range-of-motion exercises, enteral feedings, and measures to prevent pressure ulcers.
Decreased or impaired consciousness or alertness refers to decreased responsiveness to external stimuli. Severe impairment includes
• Coma: The patient usually cannot be aroused, and the eyes do not open in response to any stimulation.
• Stupor: The patient can be awakened only by vigorous physical stimulation.
Less severely impaired levels of consciousness are often labelled as lethargy or, if more severe, obtundation. However, differentiation between less severely impaired levels is often imprecise; the label is less important than a precise clinical description (e.g., “the best level of response is partial limb withdrawal to nail bed pressure”). Delirium differs because cognitive disturbances (in attention, cognition, and level of consciousness) fluctuate more; also, delirium is usually reversible.
Locked-in syndrome is a state of wakefulness and awareness with quadriplegia and paralysis of the lower cranial nerves, resulting in inability to show facial expression, move, speak, or communicate, except by coded eye movements.
Locked-in syndrome typically results from a pontine haemorrhage or infarct that causes quadriplegia and disrupts and damages the lower cranial nerves and the centres that control horizontal gaze. Other disorders that result in severe widespread motor paralysis (e.g., Guillain-Barré syndrome) and cancers that involve the posterior fossa and the pons are less common causes.
Patients have intact cognitive function and are awake, with eye opening and normal sleep-wake cycles. They can hear and see. However, they cannot move their lower face, chew, swallow, speak, breathe, move their limbs, or move their eyes laterally. Vertical eye movement is possible; patients can open and close their eyes or blink a specific number of times to answer questions.
What is biot’s breathing?
Biot’s respiration is an abnormal pattern of breathing characterized by groups of quick, shallow inspirations followed by regular or irregular periods of apnoea. It is named for Camille Biot, who characterized it in 1876.
How to do Clinical evaluation of coma?
Diagnosis is primarily clinical. Because patients lack the motor responses (eg, withdrawal from painful stimuli) usually used to measure responsiveness, they may be mistakenly thought to be unconscious. Thus, all patients who cannot move should have their comprehension tested by requesting eye blinking or vertical eye movements.
As in persistent vegetative state, neuroimaging is indicated to rule out treatable disorders (see Coma and Impaired Consciousness: Diagnosis). Brain imaging with CT or MRI is done and helps identify the pontine abnormality. PET or SPECT may be done if the diagnosis is in doubt. In patients with locked-in syndrome, EEG shows normal sleep-wake patterns.
What is the Prognosis of coma?
Prognosis depends on the cause and the subsequent level of support provided. For example, locked-in syndrome due to transient ischemia or a small stroke in the vertebrobasilar artery distribution may resolve completely. When the cause (eg, Guillain-Barré syndrome) is partly reversible, recovery can occur over months but is seldom complete. Favourable prognostic features include early recovery of lateral eye movements and of evoked potentials in response to magnetic stimulation of the motor cortex. Irreversible or progressive disorders (eg, cancers that involve the posterior fossa and the pons) are usually fatal.
What is Brain death?
Brain death is loss of function of the entire cerebrum and brain stem, resulting in coma, no spontaneous respiration, and loss of all brain stem reflexes. Spinal reflexes, including deep tendon, plantar flexion, and withdrawal reflexes, may remain. Recovery does not occur.
The concept of brain death developed because ventilators and drugs can perpetuate cardiopulmonary and other body functions despite complete cessation of all cerebral activity. The concept that brain death (ie, total cessation of integrated brain function, especially that of the brain stem) constitutes a person’s death has been accepted legally and culturally in most of the world.
Diagnosis
Serial determination of clinical criteria
Apnea testing
Sometimes EEG, brain vascular imaging, or both
For a physician to declare brain death, a known structural or metabolic cause of brain damage must be present, and use of potentially anesthetizing or paralyzing drugs, especially self-administered, must be ruled out. Hypothermia < 32° C must be corrected, and if status epilepticus is suspected, EEG should be done. Sequential testing over 6 to 24 h is necessary (see Table 6: Coma and Impaired Consciousness: Guidelines for Determining Brain Death (in Patients > 1 Yr.)). Examination includes assessment of pupil reactivity, oculovestibular and oculocephalic reflexes, corneal reflexes, and apnoea testing. Sometimes EEG or tests of brain perfusion are used to confirm absence of brain activity or brain blood flow and thus provide additional evidence to family members, but these tests are not usually required. They are indicated when apnoea testing is not hemodynamically tolerated and when only one neurologic examination is desirable (e.g., to expedite organ procurement for transplantation).
What are the Guidelines for Determining Brain Death (in Patients > 1 Yr.)?
All 9 items must be confirmed to declare brain death:

1. Reasonable efforts were made to notify the patient’s next of kin or another person close to the patient.
2. Cause of coma is known and sufficient to account for irreversible loss of all brain function.
3. CNS depressant drugs, hypothermia (< 32° C), and hypotension (MAP < 55 mm Hg) have been excluded. No neuromuscular blockers contribute to the neurologic findings.
4. Any observed movements can be attributed entirely to spinal cord function.
5. The cough reflex, pharyngeal reflexes, or both are tested and shown to be absent.
6. Corneal and pupillary light responses are absent.
7. No caloric responses follow ice water siphoned against the tympanic membrane.
8. An apnoea test of a minimum of 8 min shows no respiratory movements with a documented increase in Paco2 of > 20 mm Hg from pre-test baseline.
   PROCEDURE: Apnoea testing is done by disconnecting the ventilator from the endotracheal tube. O2 (6 L/min) can be supplied by diffusion from a cannula placed through the endotracheal tube. Despite the ventilatory stimulus of the passively rising Paco2, no spontaneous respirations are seen over an 8- to 12-min period.
   Note: The apnoea test should be done with extreme caution to minimize risks of hypoxia and hypotension, particularly in potential organ donors. If arterial BP falls significantly during the test, the test should be stopped, and an arterial blood sample drawn to determine whether Paco2 has risen either to > 55 mm Hg or has increased by > 20 mm Hg. This finding validates the clinical diagnosis of brain death.
9. At least one of the following 4 criteria has been established:
   a. Items 2–8 have been confirmed by 2 examinations separated by at least 6 h.
   b. Items 2–8 have been confirmed AND
   • An EEG shows electrocortical silence.
   • A 2nd examination at least 2 h after the 1st confirms items 2–8.
   c. Items 2–8 have been confirmed AND
   • Conventional angiography, transcranial Doppler ultrasonography, or technetium-99m hexamethylpropyleneamine oxime brain scanning shows no intracranial blood flow.
   • A 2nd examination at least 2 h after the first confirms items 2–8.
   d. If any of items 2–8 cannot be determined because the injury or condition prohibits evaluation (eg, extensive facial injury precludes caloric testing), the following criteria apply:
   • Items that are assessable are confirmed.
   • Conventional angiography, transcranial Doppler ultrasonography, or technetium-99m hexamethylpropyleneamine oxime brain scanning shows no intracranial blood flow.
   • A 2nd examination 6 h after the first confirms all assessable items.
   MAP = mean arterial pressure.
   Adapted from the American Academy of Neurology Guidelines (1995).
   What is the Prognosis of brain death?
   The diagnosis of brain death is equivalent to the person’s death. No one who meets the criteria for brain death recovers. After brain death is confirmed, all supporting cardiac and respiratory treatments are ended. Cessation of ventilatory support results in terminal arrhythmias. Spinal motor reflexes may occur during terminal apnoea; they include arching of the back, neck turning, stiffening of the legs, and upper extremity flexion (the so-called Lazarus sign). Family members who wish to be present when the ventilator is shut off need to be warned of such reflex movements.
   What is Cushing reflex?
   When intracranial pressure is increased sufficiently, regardless of the cause, Cushing reflex and other autonomic abnormalities can occur. Cushing reflex includes systolic hypertension with increased pulse pressure, irregular respirations, and bradycardia. Brain herniation is life threatening.
   What is Trans tentorial herniation?
   The medial temporal lobe is squeezed by a unilateral mass under the tent like tentorium that supports the temporal lobe. The herniating lobe compresses the following structures:
   • Ipsilateral 3rd cranial nerve (often first) and posterior cerebral artery
   • As herniation progresses, the ipsilateral cerebral peduncle
   • In about 5% of patients, the contralateral 3rd cranial nerve and cerebral peduncle
   • Eventually, the upper brain stem and the area in or around the thalamus
   What is Sub-falcine herniation?
   The cingulate gyrus is pushed under the falx cerebri by an expanding mass high in a cerebral hemisphere. In this process, one or both anterior cerebral arteries become trapped, causing infarction of the paramedian cortex. As the infarcted area expands, patients are at risk of transtentorial herniation, central herniation, or both.
   What is Central herniation?
   Both temporal lobes herniate because of bilateral mass effects or diffuse brain oedema. Ultimately, brain death occurs.
   Upward transtentorial herniation: This type can occur when an infratentorial mass (eg, tumor, cerebellar hemorrhage) compresses the brain stem, kinking it and causing patchy brain stem ischemia. The posterior 3rd ventricle becomes compressed. Upward herniation also distorts the mesencephalon vasculature, compresses the veins of Galen and Rosenthal, and causes superior cerebellar infarction due to occlusion of the superior cerebellar arteries.
   What is Tonsillar herniation?
   Usually, the cause is an expanding infratentorial mass (eg, cerebellar hemorrhage). The cerebellar tonsils, forced through the foramen magnum, compress the brain stem and obstruct CSF flow.
   What are the common Causes of Coma or Impaired Consciousness?
   Structural disorders Brain abscess
   Brain tumor
   Head trauma (eg, concussion, cerebral lacerations or contusions, epidural or subdural hematoma)
   Hydrocephalus (acute)
   Intraparenchymal haemorrhage
   Subarachnoid hemorrhage
   Upper brain stem infarct or hemorrhage
   Seizures (eg, nonconvulsive status epilepticus) or a postictal state caused by an epileptogenic focus
   Metabolic disorders Diabetic ketoacidosis
   Hepatic encephalopathy
   Hypercalcemia
   Hypercapnia
   Hyperglycaemia
   Hypernatremia
   Hypoglycemia
   Hyponatremia
   Hypoxia
   Myxedema
   Uraemia
   Wernicke encephalopathy
   Infections Encephalitis
   Meningitis
   Sepsis
   Other disorders Diffuse axonal injury
   Hypertensive encephalopathy
   Hyperthermia or hypothermia
   Sedatives
   CNS depressants
   Carbon monoxide
   Psychiatric disorders (eg, psychogenic unresponsiveness) can mimic impaired consciousness but are usually distinguished from true impaired consciousness by neurologic examination.
   What are the Symptoms and Signs of coma?
   Consciousness is decreased to varying degrees. Repeated stimuli arouse patients only briefly or not at all. Depending on the cause, other symptoms develop.
   • Eye abnormalities: Pupils may be dilated, pinpoint, or unequal. One or both pupils may be fixed in mid position. Eye movement may be dys=conjugate or absent (oculomotor paresis). Homonymous hemianopia may be present. Other abnormalities include absence of blinking in response to visual threat (almost touching the eye), as well as loss of the oculocephalic reflex (the eyes do not move in response to head rotation), the oculovestibular reflex (the eyes do not move in response to caloric stimulation), and corneal reflexes.
   • Autonomic dysfunction: Patients may have abnormal breathing patterns (Cheyne-Stokes or Biot respirations), sometimes with hypertension and bradycardia (Cushing reflex). Abrupt respiratory and cardiac arrest may occur.
   • Motor dysfunction: Abnormalities include flaccidity, hemiparesis, asterixis, multifocal myoclonus, decorticate posturing (elbow flexion and shoulder adduction with leg extension), and decerebrate posturing (limb extension and internal shoulder rotation).
   • Other symptoms: If the brain stem is compromised, nausea, vomiting, meningismus, occipital headache, ataxia, and increasing somnolence can occur.
   How to evaluate coma?
   • History
   • General physical examination
   • Neurologic examination, including eye examination
   • Laboratory tests (eg, pulse oximetry, bedside glucose measurement, blood and urine tests)
   • Immediate neuroimaging
   • Sometimes measurement of ICP
   • If diagnosis is unclear, lumbar puncture or EEG
   Impaired consciousness is diagnosed if repeated stimuli arouse patients only briefly or not at all. If stimulation triggers primitive reflex movements (eg, decerebrate or decorticate posturing), impaired consciousness may be deepening into coma.
   Diagnosis and initial stabilization (airway, breathing, and circulation) should occur simultaneously. Glucose levels must be measured at bedside to identify low levels, which should be corrected immediately. If trauma is involved, the neck is immobilized until clinical history, physical examination, or imaging tests exclude an unstable injury and damage to the cervical spine.
   History: Medical identification bracelets or the contents of a wallet or purse may provide clues (e.g., hospital identification card, drugs). Relatives, paramedics, police officers, and any witnesses should be questioned about the circumstances and environment in which the patient was found; containers that may have held food, alcohol, drugs, or poisons should be examined and saved for identification (e.g., drug identification aided by a poison centre) and possible chemical analysis.
   Relatives should be asked about the onset and time course of the problem (e.g., whether seizure, headache, vomiting, head trauma, or drug ingestion was observed, how quickly symptoms appeared, whether the course has been progressive or waxing and waning), baseline mental status, recent infections and possible exposure to infections, recent travel, ingestions of unusual meals, psychiatric problems and symptoms, drug history, alcohol and other substance use, previous illnesses, the last time the patient was normal, and any hunches they may have about what might be the cause (e.g., possible occult overdose, possible occult head trauma due to recent intoxication).
   Medical records should be reviewed if available.
   General physical examination: Physical examination should be focused and efficient and should include thorough examination of the head and face, skin, and extremities. Signs of head trauma include periorbital ecchymosis (raccoon eyes), ecchymosis behind the ear (Battle sign), hemotympanum, instability of the maxilla, and CSF rhinorrhoea and otorrhea. Scalp contusions and small bullet holes can be missed unless the head is carefully inspected. If unstable injury and cervical spine damage have been excluded, passive neck flexion is done; stiffness suggests subarachnoid haemorrhage or meningitis.
   Fever, petechial or purpuric rash, hypotension, or severe extremity infections (eg, gangrene of one or more toes) may suggest sepsis or CNS infection. Needle marks may suggest drug overdose (eg, of opioids or insulin
   A bitten tongue suggests seizure. Breath odour may suggest alcohol, other drug intoxication, or diabetic ketoacidosis.
   Neurologic examination: The neurologic examination determines whether the brain stem is intact and where the lesion is located within the CNS. The examination focuses on the following:
   • Level of consciousness
   • Eyes
   • Motor function
   • Deep tendon reflexes
   Level of consciousness is evaluated by attempting to wake patients first with verbal commands, then with nonnoxious stimuli, and finally with noxious stimuli (eg, pressure to the supraorbital ridge, nail bed, or sternum). The Glasgow Coma Scale was developed to assess patients with head trauma. For head trauma, the score assigned by the scale is valuable prognostically. For coma or impaired consciousness of any cause, the scale is used because it is a relatively reliable, objective measure of the severity of unresponsiveness and can be used serially for monitoring. The scale assigns points based on responses to stimuli. Eye opening, facial grimacing, and purposeful withdrawal of limbs from a noxious stimulus indicate that consciousness is not greatly impaired. Asymmetric motor responses to pain or deep tendon reflexes may indicate a focal hemispheric lesion.
   Glasgow Coma Scale is already discussed.
   As impaired consciousness deepens into coma, noxious stimuli may trigger stereotypic reflex posturing. Decorticate posturing indicates hemispheric damage with preservation of motor centers in the upper portion of the brain stem (eg, rubrospinal tract). Decerebrate posturing indicates that the upper brain stem motor centers, which facilitate flexion, have been damaged and that only the lower brain stem centers (e.g., vestibulospinal tract, reticulospinal tract), which facilitate extension, are responding to sensory stimuli. Flaccidity without movement indicates that the lower brain stem is not affecting movement, regardless of whether the spinal cord is damaged. It is the worst possible motor response.
   Asterixis and multifocal myoclonus suggest metabolic disorders such as uraemia, hepatic encephalopathy, hypoxic encephalopathy, and drug toxicity.
   Psychogenic unresponsiveness can be differentiated because although voluntary motor response is typically absent, muscle tone and deep tendon reflexes remain normal, and all brain stem reflexes are preserved. Vital signs are usually not affected.
   Eye examination: The following are evaluated:
   • Pupillary responses
   • Extraocular movements
   • Fundi
   • Other neuro-ophthalmic reflexes
   Pupillary responses and extraocular movements provide information about brain stem function. One or both pupils usually become fixed early in coma due to structural lesions, but pupillary responses are often preserved until very late when coma is due to diffuse metabolic disorders (called toxic-metabolic encephalopathy), although responses may be sluggish. If one pupil is dilated, other causes of anisocoria should be considered
   The fundi should be examined. Papilledema may indicate increased ICP but may take many hours to appear. Increased ICP can cause earlier changes in the fundi, such as disk hypermia, dilated capillaries, blurring of the medial disk margins, and sometimes hemorrhage. Subhyaloid hemorrhage may indicate subarachnoid hemorrhage.
   How to do Interpretation of Pupillary Response and Eye Movements in coma?
   Sluggish light reactivity retained until all other brain stem reflexes are lost Diffuse cellular cerebral dysfunction (toxic-metabolic encephalopathy)
   Unilateral pupillary dilation, pupil unreactive to light 3rd cranial nerve compression (eg, in transtentorial herniation), usually due to an ipsilateral lesion (see Symptoms of Ophthalmologic Disorders: Anisocoria)
   Pupils fixed in midposition Midbrain dysfunction due to structural damage (eg, infarction, hemorrhage) Central herniation Prolonged metabolic depression by drugs or toxins
   Constricted pupils (1 mm wide) Massive pontine hemorrhage, Toxicity due to opioids or certain insecticides (eg, organophosphates, carbamates)
   Eye movements
   Early abnormal pupillary and oculomotor signs Primary brain stem lesion
   Spontaneous, conjugate roving eye movements but intact brain stem reflexes Early toxic-metabolic encephalopathy
   Gaze preference to one side Brain stem lesion on the opposite side
   Cerebral hemisphere lesion on the same side
   Absent eye movements Further testing required (eg, oculocephalic and oculovestibular reflexes)
   Possibly toxicity due tophenobarbital or phenytoin, Wernicke encephalopathy, botulism, or brain death.
   In an unresponsive patient, the oculocephalic reflex is tested by the doll’s-eye maneuver: The eyes are observed while the head is passively rotated from side to side or flexed and extended. This maneuver should not be attempted if cervical spine instability is suspected.
   • If the reflex is present, the maneuver causes the eyes to move in the opposite direction of head rotation, flexion, or extension, indicating that the oculovestibular pathways in the brain stem are intact. Thus, in a supine patient, the eyes continue to look straight up when the head is turned side to side.
   • If the reflex is absent, the eyes do not move and thus point in whatever direction the head is turned, indicating the oculovestibular pathways are disrupted. The reflex is also absent in most patients with psychogenic unresponsiveness because visual fixation is conscious.
   If the patient is unconscious and the oculocephalic reflex is absent or the neck is immobilized, oculovestibular (cold caloric) testing is done. After integrity of the tympanic membrane is confirmed, the patient’s head is elevated 30°, and with a syringe connected to a flexible catheter, the examiner irrigates the external auditory canal with 50 mL of ice water over a 30-sec period.
   • If both eyes deviate toward the irrigated ear, the brain stem is functioning normally, suggesting mildly impaired consciousness.
   • If nystagmus away from the irrigated ear also occurs, the patient is conscious and psychogenic unresponsiveness is likely. In conscious patients, 1 mL of ice water is often enough to induce ocular deviation and nystagmus. Thus, if psychogenic unresponsiveness is suspected, a small amount of water should be used because cold caloric testing can induce severe vertigo, nausea, and vomiting in conscious patients.
   • If the eyes do not move or movement is dysconjugate after irrigation, the integrity of the brain stem is uncertain and the coma is deeper. Prognosis may be less favourable.
   Pearls & Pitfalls
   • If muscle tone and deep tendon reflexes are normal and doll’s-eye reflex is absent, suspect psychogenic unresponsiveness and check the oculovestibular reflex by instilling only 1 mL of ice water in the ear.
   Certain patterns of eye abnormalities and other findings may suggest brain herniation.
   Respiratory patterns: The spontaneous respiratory rate and pattern should be documented unless emergency airway intervention is required. It may suggest a cause.
   • Periodic cycling of breathing (Cheyne-Stokes or Biot respiration—see Approach to the Pulmonary Patient: Inspection) may indicate dysfunction of both hemispheres or of the diencephalon.
   • Hyperventilation (central neurogenic hyperventilation) with respiratory rates of > 40 breaths/min may indicate midbrain or upper pontine dysfunction.
   • An inspiratory gasp with respiratory pauses of about 3 sec after full inspiration (apneustic breathing) typically indicates pontine or medullary lesions; this type of breathing often progresses to respiratory arrest.
   What investigations are to be done in a case of coma?
   Initially, pulse oximetry, fingerstick plasma glucose measurements, and cardiac monitoring are done. Blood tests should include a comprehensive metabolic panel (including at least serum electrolytes, BUN, creatinine, and Ca levels), CBC with differential and platelets, liver function tests, and ammonia level. ABGs are measured, and if carbon monoxide toxicity is suspected, carboxyhaemoglobin level is measured. Blood and urine should be obtained for culture and routine toxicology screening; serum ethanol level is also measured. Additional toxicology tests (eg, additional toxicology screening, serum drug levels) are done based on clinical suspicion. ECG (12-lead) should be done.
   If the cause is not immediately apparent, non-contrast head CT should be done as soon as possible to check for masses, hemorrhage, oedema, and hydrocephalus. Initially, non-contrast CT rather than contrast CT is preferred to rule out brain hemorrhage. MRI can be done instead if immediately available, but it is not as quick as newer-generation CT scanners. Contrast CT can then be done if non-contrast CT is not diagnostic. MRI or contrast CT may detect iso dense subdural hematomas, multiple metastases, sagittal sinus thrombosis, herpes encephalitis, or other causes missed by non-contrast CT. A chest x-ray should also be taken.
   If coma is unexplained after neuroimaging and other tests and if there is no obstruction in the CSF flow or ventricular system that would significantly increase ICP, lumbar puncture is done to check opening pressure and to exclude infection, subarachnoid hemorrhage, and other abnormalities. Lumbar puncture is not done until after imaging studies are done to exclude an intracranial mass and obstructive hydrocephalus because if either is present, suddenly lowering CSF pressure by lumbar puncture could trigger brain herniation. CSF analysis includes cell and differential counts, protein, glucose, Gram staining, cultures, and sometimes, based on clinical suspicion, specific tests (eg, cryptococcal antigen, Venereal Disease Research Laboratory [VDRL] tests, PCR for herpes simplex, visual or spectrophotometric determination of xanthochromia).
   If increased ICP is suspected, pressure is measured. Hyperventilation, managed by an ICU specialist, should be considered. Hyperventilation causes hypocapnia, which in turn decreases cerebral blood flow globally through vasoconstriction. Reduction in Pco2 from 40 mm Hg to 30 mm Hg can reduce ICP by about 30%. Pco2 should be maintained at 25 mm Hg to 30 mm Hg, but aggressive hyperventilation to < 25 mm Hg should be avoided because this approach may reduce cerebral blood flow excessively and result in cerebral ischemia. If pressure is increased, it is monitored continuously (see Approach to the Critically Ill Patient: Intracranial Pressure Monitoring). If diagnosis remains uncertain, EEG may be done. In most comatose patients, EEG shows slowing and reductions in wave amplitude that are nonspecific but often occur in toxic-metabolic encephalopathy. However, EEG monitoring (eg, in the ICU) is increasingly identifying nonconvulsive status epilepticus. In such cases, the EEG may show spikes, sharp waves, or spike and slow complexes. What is the Prognosis of coma? Prognosis depends on the cause, duration, and depth of the impairment of consciousness. For example, absent brain stem reflexes indicates a poor prognosis after cardiac arrest, but not always after a sedative overdose. In general, if unresponsiveness lasts < 6 h, prognosis is more favourable. After coma, the early return of speech (even if incomprehensible), spontaneous eye movements, or ability to follow commands is a favourable prognostic sign. If the cause is a reversible condition (e.g., sedative overdose, some metabolic disorders such as uraemia), patients may lose all brain stem reflexes and all motor response and yet recover fully. After trauma, a Glasgow Coma Scale score of 3 to 5 may indicate fatal brain damage, especially if pupils are fixed or oculovestibular reflexes are absent. After cardiac arrest, clinicians must exclude major confounders of coma, including sedatives, neuromuscular blockade, hypothermia, metabolic derangements, and severe liver or kidney failure. If brain stem reflexes are absent at day 1 or lost later, testing for brain death is indicated. Prognosis is poor if patients have any of the following: • Myoclonic status epilepticus (bilaterally synchronous twitching of axial structures, often with eye opening and upward deviation of the eyes) that occurs within 24 to 48 h after cardiac arrest • No pupillary light reflexes 24 to 72 h after cardiac arrest • No corneal reflexes 72 h after cardiac arrest • Extensor posturing or no response elicited by painful stimuli 72 h after cardiac arrest • No N20 on somatosensory evoked potentials (SEP) or a serum neuron-specific enolase level of > 33 µg/L
   If patients were treated with hypothermia, 72 h should be added to the times above because hypothermia slows recovery. If none of the above criteria is met, outcome is usually (but not always) poor; thus, whether to withdraw life support may be a difficult decision.
   Treatment
   • Immediate stabilization (airway, breathing, circulation, or ABCs)
   • Supportive measures, including, when necessary, control of ICP
   • Admission to an ICU
   • Treatment of underlying disorder
   Airway, breathing, and circulation must be ensured immediately. Hypotension must be corrected. Patients are admitted to the ICU so that respiratory and neurologic status can be monitored.
   Because some patients in coma are undernourished and susceptible to Wernicke encephalopathy, thiamine 100 mg IV or IM should be given routinely. If plasma glucose is low, patients should be given 50 mL of 50% dextrose IV. If opioid overdose is suspected, naloxone
   2 mg IV is given. If trauma is involved, the neck is immobilized until damage to the cervical spine is ruled out. If a recent (within about 1 h) drug overdose is possible, gastric lavage can be done through a large-bore orogastric tube (eg, ≥ 32 Fr) after endotracheal intubation. Activated charcoal can then be given via the orogastric tube.
   Endotracheal intubation: Patients with any of the following require endotracheal intubation to prevent aspiration and ensure adequate ventilation:
   • Infrequent, shallow, or stertorous respirations
   • Low O2 saturation (determined by pulse oximetry or ABG measurements)
   • Impaired airway reflexes
   • Severe unresponsiveness (including most patients with a Glasgow Coma Scale score ≤ 8
   If increased ICP is suspected, intubation should be done via rapid-sequence oral intubation (using a paralytic drug) rather than via nasotracheal intubation; nasotracheal intubation in a patient who is breathing spontaneously causes more coughing and gagging, thus increasing ICP, which is already increased because of intracranial abnormalities.
   To minimize the increase in ICP that may occur when the airway is manipulated, some clinicians recommend giving lidocaine 1.5 mg/kg IV 1 to 2 min before giving the paralytic. Patients are sedated before the paralytic is given. Etomidate is a good choice in hypotensive or trauma patients because it has minimal effects on BP; IV dose is 0.3 mg/kg for adults (or 20 mg for an average-sized adult) and 0.2 to 0.3 mg/kg for children. Alternatively, if hypotension is absent and unlikely and if propofol is readily available, propofol 0.2 to 1.5 mg/kg may be used. Succinylcholine 1.5 mg/kg IV is typically used as a paralytic. However, use of paralytics is minimized and, whenever possible, avoided because they can mask neurologic findings and changes.
   Pulse oximetry and ABGs (if possible, end-tidal CO2) should be used to assess adequacy of oxygenation and ventilation.
   ICP control: If ICP is increased, intracranial and cerebral perfusion pressure should be monitored (see Approach to the Critically Ill Patient: Intracranial Pressure Monitoring), and pressures should be controlled. The goal is to maintain ICP at ≤ 20 mm Hg and cerebral perfusion pressure at 50 to 70 mm Hg. Cerebral venous drainage can be enhanced (thus lowering ICP) by elevating the head of the bed to 30° and by keeping the patient’s head in a midline position.
   Control of increased ICP involves several strategies:
   • Sedation: Sedatives may be necessary to control agitation, excessive muscular activity (eg, due to delirium), or pain, which can increase ICP. Propofol
   is often used in adults (contraindicated in children) because onset and duration of action are quick; dose is 0.3 mg/kg/h by continuous IV infusion, titrated gradually up to 3 mg/kg/h as needed. An initial bolus is not used. The most common adverse effect is hypotension. Prolonged use at high doses can cause pancreatitis. Benzodiazepines (eg, midazolam, lorazepam) can also be used. Because sedatives can mask neurologic findings and changes, their use should be minimized and, whenever possible, avoided. Antipsychotics should be avoided if possible because they can delay recovery. Sedatives are not used to treat agitation and delirium due to hypoxia; O2 is used instead.
   • Hyperventilation: Hyperventilation causes hypocapnia, which causes vasoconstriction, thus decreasing cerebral blood flow globally. Reduction in Pco2 from 40 to 30 mm Hg can reduce ICP about 30%. Hyperventilation that reduces Pco2 to 28 to 33 mm Hg decreases ICP for only about 30 min and is used by some clinicians as a temporary measure until other treatments take effect. Aggressive hyperventilation to < 25 mm Hg should be avoided because it may reduce cerebral blood flow excessively and result in cerebral ischemia. Other measures may be used to control increased ICP (see Traumatic Brain Injury (TBI): Increased intracranial pressure). • Hydration: Isotonic fluids are used. Providing free water through IV fluids (eg, 5% dextrose, 0.45% saline) can aggravate cerebral oedema and should be avoided. Fluids may be restricted to some degree, but patients should be kept euvolemic. If patients have no signs of dehydration or fluid overload, IV fluids with normal saline can be started at 50 to 75 mL/h. The rate can be increased or decreased based on serum Na, osmolality, urine output, and signs of fluid retention (eg, oedema). • Diuretics: Serum osmolality should be kept at 295 to 320 mOsm/kg. Osmotic diuretics (eg, mannitol ) may be given IV to lower ICP and maintain serum osmolality. These drugs do not cross the blood-brain barrier. They pull water from brain tissue across an osmotic gradient into plasma, eventually leading to equilibrium. Effectiveness of these drugs decreases after a few hours. Thus, they should be reserved for patients whose condition is deteriorating or used preoperatively for patients with hematomas. Mannitol 20% solution is given 0.5 to 1 g/kg IV (2.5 to 5 mL/kg) over 15 to 30 min, then given as often as needed (usually q 6 to 8 h) in a dose ranging from 0.25 to 0.5 g/kg (1.25 to 2.5 mL/kg). Mannitol must be used cautiously in patients with severe coronary artery disease, heart failure, renal insufficiency, or pulmonary vascular congestion because mannitol rapidly expands intravascular volume. Because osmotic diuretics increase renal excretion of water relative to Na, prolonged use of mannitol may result in water depletion and hypernatremia. Furosemide 1 mg/kg IV can decrease total body water, particularly when transient hypervolemia associated with mannitol is to be avoided. Fluid and electrolyte balance should be monitored closely while osmotic diuretics are used. A 3% saline solution is being studied as another potential osmotic agent to control ICP. • BP control: Systemic antihypertensives are needed only when hypertension is severe (>180/95 mm Hg). How much BP is reduced depends on the clinical context. Systemic BP needs to be high enough to maintain cerebral perfusion pressure even when ICP increases. Hypertension can be managed by titrating a nicardipine
   drip (5 mg/h, increased by 2.5 mg q 5 min to a maximum of 15 mg/h) or by boluses of labetalol
   (10 mg IV over 1 to 2 min, repeated q 10 min to a maximum of 150 mg).
   • Corticosteroids: These drugs are usually helpful for patients with a brain tumor or brain abscess, but they are ineffective for patients with head trauma, cerebral hemorrhage, ischemic stroke, or hypoxic brain damage after cardiac arrest. Corticosteroids increase plasma glucose; this increase may worsen the effects of cerebral ischemia and complicate management of diabetes mellitus. After an initial dose of dexamethasone
   20 to 100 mg, 4 mg once/day appears to be effective while minimizing adverse effects. Dexamethasone can be given IV or po.
   If ICP continues to increase despite other measures to control it, the following may be used:
   • Pentobarbital coma: Pentobarbital
   can reduce cerebral blood flow and metabolic demands. However, its use is controversial because the effect on clinical outcome is not consistently beneficial. Coma is induced by giving pentobarbital
   10 mg/kg IV over 30 min, followed by 5 mg/kg/h for 3 h, then 1 mg/kg/h. The dose may be adjusted to suppress bursts of EEG activity, which is continuously monitored. Hypotension is common and is managed by giving fluids and, if necessary, vasopressors. Other possible adverse effects include arrhythmias, myocardial depression, and impaired uptake or release of glutamate.
   • Decompressive craniotomy: Craniotomy with duraplasty can be done to provide room for brain swelling. This procedure can prevent deaths, but overall functional outcome may not improve much. It may be most useful for large cerebral infarcts with impending herniation, particularly in patients < 50 yr. Long-term care: Patients require meticulous long-term care. Stimulants, sedatives, and opioids should be avoided. Enteral feeding is started with precautions to prevent aspiration (eg, elevation of the head of the bed); a percutaneous endoscopic jejunostomy tube is placed if necessary. Early, vigilant attention to skin care, including checking for breakdown especially at pressure points, is required to prevent pressure ulcers. Topical ointments to prevent desiccation of the eyes are beneficial. Passive range-of-motion exercises done by physical therapists and taping or dynamic flexion splitting of the extremities may prevent contractures. Measures are also taken to prevent UTIs and deep venous thrombosis. Key Points • Coma and impaired consciousness require dysfunction of both cerebral hemispheres or dysfunction of the reticular activating system. • Manifestations include abnormalities of the eyes (eg, abnormal conjugate gaze, pupillary responses, and/or oculocephalic or oculovestibular reflexes), vital signs (eg, abnormal respirations), and motor function (eg, flaccidity, hemiparesis, asterixis, multifocal myoclonus, decorticate or decerebrate posturing). • Taking a complete history of prior events is critical; ask witnesses and relatives about the time course for the change in mental status and about possible causes (eg, recent travel, ingestion of unusual meals, exposure to possible infections, drug or alcohol use, possible trauma). • Do a general physical examination, including thorough examination of the head and face, skin, and extremities and a complete neurologic examination (focusing on level of consciousness, the eyes, motor function, and deep tendon reflexes), followed by appropriate blood and urine tests, toxicology screening, and fingerstick plasma glucose measurements. • Do non- contrast CT immediately as soon as the patient has been stabilized. • Ensure adequate airways, breathing, and circulation. • Give IV or IM thiamine and IV glucose if plasma glucose is low and IV naloxone if opioid overdose is suspected. • Control ICP using various strategies, which may include sedatives (as needed) to control agitation, temporary hyperventilation, fluids and diuretics to maintain euvolemia, and antihypertensives to control BP. What is Vegetative state? Patients show no evidence of awareness of self or environment and cannot interact with other people. Purposeful responses to external stimuli are absent, as are language comprehension and expression. Signs of an intact reticular formation (eg, eye opening) and an intact brain stem (eg, reactive pupils, oculocephalic reflex) are present. Sleep-wake cycles occur but do not necessarily reflect a specific circadian rhythm and are not associated with the environment. More complex brain stem reflexes, including yawning, chewing, swallowing, and, uncommonly, guttural vocalizations, are also present. Arousal and startle reflexes may be preserved; eg, loud sounds or blinking with bright lights may elicit eye opening. Eyes may water and produce tears. Patients may appear to smile or frown. Spontaneous roving eye movements—usually slow, of constant velocity, and without saccadic jerks—may be misinterpreted as volitional tracking and can be misinterpreted by family members as evidence of awareness. Patients cannot react to visual threat and cannot follow commands. The limbs may move, but the only purposeful motor responses that occur are primitive (eg, grasping an object that contacts the hand). Pain usually elicits a motor response (typically decorticate or decerebrate posturing) but no purposeful avoidance. Patients have faecal and urinary incontinence. Cranial nerve and spinal reflexes are typically preserved. Rarely, brain activity, detected by functional MRI or EEG, indicates a response to questions and commands even though there is no behavioural response. The extent of patients’ actual awareness is not yet known. In most patients who have such brain activity, the vegetative state resulted from brain trauma, not hypoxic encephalopathy. Minimally conscious state: Fragments of meaningful interaction with the environment are preserved. Patients may establish eye contact, purposefully grasp at objects, respond to commands in a stereotypic manner, or answer with the same word. Diagnosis • Clinical criteria after sufficient observation • Neuroimaging A vegetative state is suggested by characteristic findings (eg, no purposeful activity or comprehension) plus signs of an intact reticular formation. Diagnosis is based on clinical criteria. However, neuroimaging is indicated to rule out treatable disorders. The vegetative state must be distinguished from the minimally conscious state. Both states can be permanent or temporary, and the physical examination may not reliably distinguish one from the other. Sufficient observation is needed. If observation is too brief, evidence of awareness may be overlooked, resulting in a false-positive diagnosis. Some patients with severe Parkinson disease are misdiagnosed as being in a vegetative state. CT or MRI can differentiate an ischemic infarct, an intracerebral hemorrhage, and a mass lesion involving the cortex or the brain stem. MR angiography can be used to visualize the cerebral vasculature after exclusion of a cerebral hemorrhage. Diffusion-weighted MRI is becoming the preferred imaging modality for following ongoing ischemic changes in the brain. PET and SPECT can be used to assess cerebral function (rather than brain anatomy). If the diagnosis of persistent vegetative state is in doubt, PET or SPECT should be done. EEG is useful in assessing cortical dysfunction and identifying occult seizure activity. What is the Prognosis of Vegetative state? Prognosis varies somewhat by cause and duration of the vegetative state. Prognosis may be better if the cause is a reversible metabolic condition (eg, toxic encephalopathy) than if the cause is neuronal death due to extensive hypoxia and ischemia or another condition. Also, younger patients may recover more motor function than older patients but not more cognition, behavior, or speech. Recovery from a vegetative state is unlikely after 1 mo. if brain damage is nontraumatic and after 12 mo. if brain damage is traumatic. Even if some recovery occurs after these intervals, most patients are severely disabled. Rarely, improvement occurs late; after 5 yr., about 3% of patients recover the ability to communicate and comprehend, but even fewer can live independently; no patients regain normal function. Most patients in a persistent vegetative state die within 6 mo. of the original brain damage. The cause is usually pulmonary infection, UTI, or multiple organ failure, or death may be sudden and of unknown cause. For most of the rest, life expectancy is about 2 to 5 yr.; only about 25% of patients live > 5 yr. A few patients live for decades.
   Minimally conscious state: Most patients tend to recover consciousness but to a limited extent depending on how long minimally conscious state has lasted. The longer it has lasted, the less chance of patients recovering higher cortical function. Prognosis may be better if the cause is traumatic brain injury. Rarely, patients regain clear but limited awareness after years of coma, called awakenings by the news media.
   What is the Treatment of vegetative state?
   • Supportive care
   Supportive care is the mainstay of treatment and should include the following:
   • Preventing systemic complications due to immobilization (eg, pneumonia, UTI, thromboembolic disease)
   • Providing good nutrition
   • Preventing pressure ulcers
   • Providing physical therapy to prevent limb contractures
   Vegetative state has no specific treatment. Decisions about life-sustaining care should involve social services, the hospital ethics committee, and family members. Maintaining patients, especially those without advanced directives to guide decisions about terminating treatment (see Medicolegal Issues: Advance Directives), in a prolonged vegetative state raises ethical and other (eg, resource utilization) questions.
   Most patients in a minimally conscious state do not respond to specific treatments. However, rarely, treatment with zolpidem
   can cause dramatic and repeated improvement in neurologic responsiveness for as long as the drug is continued.
   What are the take home points in management of vegetative state?
   • Vegetative state is typically characterized by intact brain stem function and sometimes the simulation of awareness despite its absence.
   • Minimally conscious state differs from vegetative state in that patients have some interaction with the environment and tend to improve over time.
   • Diagnosis requires exclusion of other disorders and often prolonged observation, particularly to differentiate vegetative state, minimally conscious state, and Parkinson disease.
   • Prognosis tends to be poor, particularly for patients in a vegetative state.
   • Treatment is mainly supportive.
   What is conjugate gaze palsy?
   A conjugate gaze palsy is inability to move both eyes in a single horizontal (most commonly) or vertical direction.
   Gaze palsies most commonly affect horizontal gaze; some affect upward gaze, and fewer affect downward gaze.
   What is Horizontal gaze palsies?
   Conjugate horizontal gaze is controlled by neural input from the cerebral hemispheres, cerebellum, vestibular nuclei, and neck. Neural input from these sites converges at the horizontal gaze centre (paramedian pontine reticular formation) and is integrated into a final command to the adjacent 6th cranial nerve nucleus, which controls the lateral rectus on the same side, and, via the medial longitudinal fasciculus (MLF), to the contralateral 3rd cranial nerve nucleus and the medial rectus it controls. Inhibitory signals to opposing eye muscles occur simultaneously.
   The most common and devastating impairment of horizontal gaze results from pontine lesions that affect the horizontal gaze center and the 6th cranial nerve nucleus. Strokes are a common cause, resulting in loss of horizontal gaze ipsilateral to the lesion. In palsies due to stroke, the eyes may not move in response to any stimulus (e.g., voluntary or vestibular). Milder palsies may cause only nystagmus or inability to maintain fixation.
   Another common cause is a lesion in the contralateral cerebral hemisphere rostral to the frontal gyrus. These lesions are typically caused by a stroke. The resulting palsy usually abates with time. Horizontal conjugate gaze mediated by brain stem reflexes (eg, in response to cold-water caloric stimulation) is preserved.
   What are Vertical gaze palsies?
   Upward and downward gaze depends on input from fibre pathways that ascend from the vestibular system through the MLF on both sides to the 3rd and 4th cranial nerve nuclei, the interstitial nucleus of Cajal, and the rostral interstitial nucleus of the MLF. A separate system descends, presumably from the cerebral hemispheres, through the midbrain pretectum to the 3rd and 4th cranial nerve nuclei. The rostral interstitial nucleus of the MLF integrates the neural input into a final command for vertical gaze.
   Vertical gaze becomes more limited with aging.
   Vertical gaze palsies commonly result from midbrain lesions, usually infarcts and tumours. In upward vertical gaze palsies, the pupils may be dilated, and vertical nystagmus occurs during upward gaze. Parinaud syndrome (dorsal midbrain syndrome), a conjugate upward vertical gaze palsy, may result from a pineal tumour or, less commonly, a tumour or infarct of the midbrain pretectum. This syndrome is characterized by impaired upward gaze, lid retraction (Collier sign), downward gaze preference (setting-sun sign), convergence-retraction nystagmus, and dilated pupils (about 6 mm) that respond poorly to light but better to accommodation (light-near dissociation).
   What are Downward gaze palsies?
   Impaired downward gaze with preservation of upward gaze usually indicates progressive supranuclear palsy (see Movement and Cerebellar Disorders: Progressive Supranuclear Palsy); other causes are rare.
   What are Cranio-cervical junction abnormalities?
   They are congenital or acquired abnormalities of the occipital bone, foramen magnum, or first two cervical vertebrae that decrease the space for the lower brain stem and cervical cord. These abnormalities can result in neck pain; syringomyelia; cerebellar, lower cranial nerve, and spinal cord deficits; and vertebrobasilar ischemia. Diagnosis is by MRI or CT. Treatment often involves reduction, followed by stabilization via surgery or an external device.
   Neural tissue is flexible and susceptible to compression. Cranio-cervical junction abnormalities can cause or contribute to cervical spinal cord or brain stem compression; some abnormalities and their clinical consequences include the following:
   Fusion of the atlas (C1) and occipital bone: Spinal cord compression if the anteroposterior diameter of the foramen magnum behind the odontoid process is 135°), seen on lateral skull imaging: No symptoms or cerebellar or spinal cord deficits or normal-pressure hydrocephalus
   What is the Aetiology of Cranio-cervical junction abnormalities?
   Cranio-cervical junction abnormalities can be congenital or acquired.
   Congenital: Congenital abnormalities may be specific structural abnormalities or general or systemic disorders that affect skeletal growth and development. Many patients have multiple abnormalities.
   Structural abnormalities include the following:
   Os odontoideum (anomalous bone that replaces all or part of the odontoid process)
   Atlas assimilation (congenital fusion of the atlas and occipital bone)
   Congenital Klippel-Feil malformation (eg, with Turner or Noonan syndrome), often associated with atlanto-occipital anomalies
   Atlas hypoplasia
   Chiari malformations (descent of the cerebellar tonsils or vermis into the cervical spinal canal, sometimes associated with platybasia—see Congenital Neurologic Anomalies: Hydrocephalus)
   General or systemic disorders that affect skeletal growth and development and involve the craniocervical junction include the following:
   Achondroplasia (impaired epiphyseal bone growth, resulting in shortened, malformed bones) sometimes causes the foramen magnum to narrow or fuse with the atlas and thus may compress the spinal cord or brain stem.
   Down syndrome, Morquio syndrome (mucopolysaccharidosis IV), or osteogenesis imperfecta can cause atlantoaxial subluxation or dislocation.
   Acquired: Acquired causes include injuries and disorders.
   Injuries may involve bone, ligaments, or both and are usually caused by vehicle or bicycle accidents, falls, and particularly diving; some injuries are immediately fatal.
   RA (the most common disease cause) and Paget disease of the cervical spine can cause atlantoaxial dislocation or subluxation, basilar invagination, or platybasia.
   Metastatic tumors that affect bone can cause atlantoaxial dislocation or subluxation.
   Slowly growing craniocervical junction tumors (eg, meningioma, chordoma) can impinge on the brain stem or spinal cord.
   What is the Symptoms and Signs of Cranio-cervical junction abnormalities?
   Symptoms and signs can occur after a minor neck injury or spontaneously and may vary in progression. Presentation varies by degree of compression and by structures affected. The most common manifestations are
   Neck pain, often with headache
   What are the Symptoms and signs of spinal cord compression?
   Neck pain often spreads to the arms and may be accompanied by headache (commonly, occipital headache radiating to the skull vertex); it is attributed to compression of the C2 root and the greater occipital nerve and to local musculoskeletal dysfunction. Neck pain and headache usually worsen with head movement and can be precipitated by coughing or bending forward. If patients with Chiari malformation have hydrocephalus, being upright may aggravate the hydrocephalus and result in headaches.
   Spinal cord compression involves the upper cervical cord. Deficits include spastic paresis in the arms, legs, or both, caused by compression of motor tracts. Joint position and vibration senses (posterior column function) are commonly impaired. Tingling down the back, often into the legs, with neck flexion (Lhermitte sign) may occur. Uncommonly, pain and temperature senses (spinothalamic tract function) are impaired in a stocking-glove pattern.
   Neck appearance, range of motion, or both can be affected by some abnormalities (eg, platybasia, basilar invagination, Klippel-Feil malformation). The neck may be short, webbed (with a skinfold running approximately from the sternocleidomastoid to the shoulder), or in an abnormal position (eg, torticollis in Klippel-Feil malformation). Range of motion may be limited.
   Brain compression (eg, due to platybasia, basilar invagination, or craniocervical tumors) may cause brain stem, cranial nerve, and cerebellar deficits. Brain stem and cranial nerve deficits include sleep apnea, internuclear ophthalmoplegia (ipsilateral weakness of eye adduction plus contralateral horizontal nystagmus in the abducting eye with lateral gaze), downbeat nystagmus (fast component downward), hoarseness, dysarthria, and dysphagia. Cerebellar deficits usually impair coordination.
   Vertebrobasilar ischemia can be triggered by changing head position. Symptoms may include intermittent syncope, drop attacks, vertigo, confusion or altered consciousness, weakness, and visual disturbance.
   Syringomyelia (cavity in the central part of the spinal cord—see Spinal Cord Disorders: Syrinx) is common in patients with Chiari malformation. It may cause segmental flaccid weakness and atrophy, which first appear or are most severe in the distal upper extremities; pain and temperature senses may be lost in a capelike distribution over the neck and proximal upper extremities, but light touch is preserved.
   How to Diagnose Cranio-cervical junction abnormalities?
   A craniocervical abnormality is suspected when patients have pain in the neck or occiput plus neurologic deficits referable to the lower brain stem, upper cervical spinal cord, or cerebellum. Lower cervical spine disorders can usually be distinguished clinically (based on level of spinal cord dysfunction) and by neuroimaging.
   Neuroimaging: If a craniocervical abnormality is suspected, MRI or CT of the upper spinal cord and brain, particularly the posterior fossa and craniocervical junction, is done. Acute or suddenly progressive deficits are an emergency, requiring immediate imaging. Sagittal MRI best identifies associated neural lesions (eg, hindbrain, cerebellar, spinal cord, and vascular abnormalities; syringomyelia) and soft-tissue lesions. CT shows bone structures more accurately than MRI and may be done more easily in an emergency.
   If MRI and CT are unavailable, plain x-rays—lateral view of the skull showing the cervical spine, anteroposterior view, and oblique views of the cervical spine—are taken.
   If MRI is unavailable or inconclusive and CT is inconclusive, CT myelography (CT after intrathecal injection of a radiopaque dye) is done. If MRI or CT suggests vascular abnormalities, magnetic resonance angiography or vertebral angiography is done.
   What is the treatment of Cranio-cervical junction abnormalities?
   Reduction and immobilization
   Sometimes surgical decompression, fixation, or both
   If neural structures are compressed, treatment consists of reduction (traction or changes in head position to realign the cranio-cervical junction and thus relieve neural compression). After reduction, the head and neck are immobilized. Acute or suddenly progressive spinal cord compression requires emergency reduction.
   For most patients, reduction involves skeletal traction with a crown halo ring and weight of up to about 4 kg. Reduction with traction may take 5 to 6 days. If reduction is achieved, the neck is immobilized in a halo vest for 8 to 12 wk.; then x-rays must be taken to confirm stability.
   If reduction does not relieve neural compression, surgical decompression, using a ventral or a dorsal approach, is necessary. If instability persists after decompression, posterior fixation (stabilization) is required. For some abnormalities (e.g., due to RA), external immobilization alone is rarely successful; if it is unsuccessful, posterior fixation or anterior decompression and stabilization are required.
   Several different methods of instrumentation (e.g., plates or rods with screws) can be used for temporary stabilization until bones fuse and stability is permanent. In general, all unstable areas must be fused.
   Bone disease: Radiation therapy and a hard-cervical collar often help patients with metastatic bone tumours. Calcitonin, mithramycin, and bisphosphonates may help patients with Paget disease.
   What is Creutzfeldt-Jakob Disease (CJD)?
   Creutzfeldt-Jakob disease is a sporadic or familial prion disease. Bovine spongiform encephalopathy (mad cow disease) is a variant form. Symptoms include dementia, myoclonus, and other CNS deficits; death occurs in 1 to 2 yr. Transmission can be prevented by taking precautions when handling infected tissues and using bleach to clean contaminated instruments. Treatment is supportive.
   About 70% of patients present with memory loss and confusion, which eventually occur in all patients; 15 to 20% present with incoordination and ataxia, which often develop early in the disease. Myoclonus provoked by noise or other sensory stimuli (startle myoclonus) often develops in the middle to late stages of disease. Although dementia, ataxia, and myoclonus are most characteristic, other neurologic abnormalities (eg, hallucinations, seizures, neuropathy, various movement disorders) can occur. Ocular disturbances (eg, visual field defects, diplopia, dimness or blurring of vision, visual agnosia) are common.
   Death typically occurs after 6 to 12 mo., commonly due to pneumonia. Life expectancy in vCJD is longer (averaging 1.5 yr.).
   CJD should be considered in elderly patients with rapidly progressive dementia, especially if accompanied by myoclonus or ataxia; however, CNS vasculitis, hyperthyroidism, and bismuth intoxication must be excluded.
   vCJD is considered in younger patients who have ingested processed beef in the UK; Wilson’s disease should be excluded.
   Diagnosis may be difficult, and diagnostic findings may develop only over time. MRI may show cerebral atrophy. Diffusion-weighted MRI frequently shows basal ganglia and cortical abnormalities. CSF is typically normal, but characteristic 14-3-3 protein is often detected. EEG may show characteristic periodic sharp waves. Brain biopsy is usually unnecessary.
   Prevention
   Because there is no effective treatment, prevention is essential. Workers handling fluids and tissues from patients suspected of having CJD must wear gloves and avoid mucous membrane exposure.
   What is RCVS?
   A thunderclap headache. Post-partum cerebral angiopathy. Sub-arachnoid haemorrhagic headache. Posterior reversible encephalopathy. Primary and benign angiopathies of the central nervous system. Call-Fleming syndrome. I am not throwing the dictionary at you. These are all sudden onset headaches resulting from changes in the flow of blood in cerebral arteries. Recent opinion tends to aggregate all these kinds of headaches under a common term, Reversible Cerebral Vasoconstriction Syndrome (RCVS).
   RCVS results from sudden narrowing of cerebral arteries which results in reduced flow of blood to parts of the brain. In some cases, hemorrhage under the arachnoid membrane may also be seen. RCVS is usually diagnosed using Magnetic Resonance Imaging (MRI) and Magnetic Resonance Angiography (MRA) and by eliminating other known causes of headaches. A peculiar feature of this malady is the persistence of constrictions on brain vessels for up to three months after the headache has occurred. At times, a series of constrictions – termed as a ‘beads-on-a-string’ appearance – have been noted. However, there is very little knowledge to date about the actual physiological mechanisms of this pathology.
   Women are more susceptible to RCVS than men. In a study conducted by Ducros and colleagues, 90% of the patients with a confirmed diagnosis of RCVS were women, with a mean age of 46 years.
   How is RCVS different from other brain vascular diseases?
   A significant difference between RCVS and strokes and transient ischemic attacks is that, unlike strokes, RCVS is not caused by atherosclerosis. However, recurrent episodes of RCVS may render patients susceptible to a stroke.
   Migraine headaches are a well-known pathological condition associated with the cerebral blood vessel network. The jury is still out on whether migraines are caused by sudden expansion of blood vessels or by constrictions in blood vessels resulting in reduced cranial circulation. Cerebral arteries are joined in a loop known as the Circle of Willis. There is some evidence to show that people with an incomplete Circle of Willis are more likely to suffer from migraine headaches than those with a complete loop. An association between RCVS and the Circle of Willis has not yet been shown. A significant difference between RCVS and migraines is the absence of ‘aura’ or accessory sensorimotor symptoms during an RCVS headache episode.
   How is RCVS diagnosed?
   Diagnosis of RCVS is complicated owing to the fact that it is known to be associated with specific physiological states such as post-partum status. Another factor that complicates diagnosis of RCVS is the fact that symptoms presented by patients are highly variable. A sudden headache, possibly accompanied by subdural or subarachnoid haemorrhage as well as constriction of blood vessels, are the usual symptoms of RCVS. However, in one case, a patient suffered from a thunderclap headache and yet the initial cranial angiography images showed normal circulation. The patient’s health deteriorated in the subsequent period despite normal blood flow to the brain and eventually the patient suffered an ischemic stroke and went into a coma. Although the patient eventually recovered, the presentation and progression of symptoms has been quite different from those seen in other cases of RCVS.
   A paediatric case of RCVS has also been documented. Administration of Eletriptan to a 12-year-old boy resulted in a sudden headache and paralysis of limbs. Magnetic resonance imaging and magnetic resonance angiography showed constricted blood vessels in a pattern consistent with RCVS.
   How is RCVS treated?
   Since the exact pathophysiology of RCVS has not been deciphered completely, treatment options are limited. Drugs like nimodipine and verapamil have been used to treat RCVS. Recovery from RCVS is achieved in approximately 90% of the cases. Some people may suffer permanent neurological damage from RCVS episodes and mortality has been noted in a tiny fraction of cases.
   As things stand, a sudden headache may turn out to be quite a serious health emergency.
   What are fragile x associated tremors/ataxia syndrome?
   FXTAS affects about 1/3000 men. A premutation (an increased number of CGG repeats) occurs in the fragile X mental retardation (FMR1) gene on the X chromosome; if the mutation is full, > 200 repeats occur, causing fragile X syndrome. People with the premutation are considered carriers. Daughters (but not sons) of men with the premutation inherit the premutation. Their children (grandchildren of men with the gene) have a 50% chance of inheriting the premutation, which can expand into a full mutation when passed from mother to child (and thus cause fragile X syndrome). FXTAS develops in about 30% of men with the premutation and in < 5% of women with the premutation. Risk of developing FXTAS increases with age. Symptoms usually develop in older age; average age of onset in 60 yr. The more CGG repeats, the more severe are the symptoms. Tremor that resembles essential tremor is a common early symptom, usually followed by ataxia within 2 yr. Other symptoms may include slow movements, stiffness, and decreased facial expression, similar to Parkinson’s disease. Cognitive impairment, including loss of short-term memory, slowed thought, and difficulty problem-solving, varies. These symptoms often progress to dementia. Depression, anxiety, impatience, hostility, and mood lability may develop. Sensation and reflexes in the feet may be lost. Dysautonomia (eg, orthostatic hypotension) may occur. In later stages, bladder and bowel control may be lost. Life expectancy after motor symptoms is reported to range from about 5 to 25 yr. In women with the premutation, symptoms are usually less severe, possibly because the presence of another X chromosome is protective. Symptoms more often suggest multiple sclerosis or fibromyalgia than FXTAS. These women have an increased risk of early menopause, infertility, and ovarian dysfunction. Diagnosis Genetic testing Grandfathers of children who have fragile X syndrome should be asked whether they have neurologic symptoms associated with FXTAS. MRI can detect the characteristic brightness in the middle cerebellar peduncles, which is not always present in FXTAS but is rarely caused by other disorders. Diagnosis is confirmed by genetic testing. Treatment Tremor can often be relieved with many of the drugs used to control tremors due to Parkinson’s disease. What is glossopharyngeal neuralgia? Glossopharyngeal neuralgia is characterized by recurrent attacks of severe pain in the 9th and 10th cranial nerve distribution (posterior pharynx, tonsils, back of the tongue, middle ear, under the angle of the jaw). Diagnosis is clinical. Treatment is usually with carbamazepine or gabapentin. Glossopharyngeal neuralgia sometimes results from nerve compression by an aberrant, pulsating artery similar to that in trigeminal neuralgia and hemifacial spasm. Rarely, the cause is a tumour in the cerebellopontine angle or the neck, a peritonsillar abscess, a carotid aneurysm, or a demyelinating disorder. Often, no cause is identified. The disorder is rare, more commonly affecting men, usually after age 40. Symptoms and Signs As in trigeminal neuralgia, paroxysmal attacks of unilateral brief, excruciating pain occur spontaneously or are precipitated by certain movements (e.g., chewing, swallowing, coughing, talking, yawning, sneezing). The pain, lasting seconds to a few minutes, usually begins in the tonsillar region or at the base of the tongue and may radiate to the ipsilateral ear. Occasionally, increased Vagus nerve activity causes sinus arrest with syncope; episodes may be very infrequent. Diagnosis Clinical evaluation, often including response to anaesthetics MRI Diagnosis is clinical. Glossopharyngeal neuralgia is distinguished from trigeminal neuralgia by the location of the pain. Also, in glossopharyngeal neuralgia, swallowing or touching the tonsils with an applicator tends to precipitate pain, and applying lidocaine to the throat temporarily eliminates spontaneous or evoked pain. MRI is done to exclude tonsillar, pharyngeal, and cerebellopontine angle tumours and metastatic lesions in the anterior cervical triangle. Local nerve blocks done by an ENT physician can help distinguish between carotidynia, superior laryngeal neuralgia, and pain caused by tumours. Treatment is usually anticonvulsants Treatment is the same as that for trigeminal neuralgia. If oral drugs are ineffective, local anaesthetics can provide relief. For example, topical cocaine applied to the pharynx may provide temporary relief, and surgery to decompress the nerve from a pulsating artery may be necessary. If pain is restricted to the pharynx, surgery can be restricted to the extracranial part of the nerve. If pain is widespread, surgery must involve the intracranial part of the nerve. What are types of head injuries? There are 3 main types of head injuries: Scalp injury: Most head injuries are a scalp injury. It is common for children to fall and hit their head at some point while growing up. This is especially common when a child is learning to walk. Falls often cause a bruise on the forehead. Sometimes black eyes appear 1 to 3 days later because the bruising spreads downward by gravity. Big lumps can occur with minor injuries because there is a large blood supply to the scalp. For the same reason small cuts on the head may bleed a lot. Skull fracture: Head injuries that you can’t see on the outside of the head are a skull fracture or a concussion. Only 1% to 2% of children with head injuries will get a skull fracture. Usually there are no other symptoms except for a headache at the site where the head was hit. Concussion: A concussion is a mild injury to the brain that changes how the brain normally works. It is usually caused by a sudden blow or jolt to the head. Many children bump or hit their heads without causing a concussion. Signs of a concussion can include headache, nausea, vomiting, dizziness, confusion, forgetting what happened around the time of the injury, acting dazed, or being knocked out. A person does NOT need to be knocked out or lose consciousness to have had a concussion. If your child has a concussion, there may be some ongoing symptoms such as mild headaches, dizziness, thinking difficulties, or behavioural/emotional changes for several days to weeks What are hemifacial spasms? Hemifacial spasms are twitching or spasms on one side of your face. The spasms are usually painless. They are chronic, which means they do not go away without treatment. The muscles may twitch even during sleep. Often the muscles around the eyes are affected along with the muscles of the cheek and corner of the mouth. How do hemifacial spasms occur? Hemifacial spasms can happen when a blood vessel puts pressure on the facial nerve. This pressure causes the nerve to work abnormally. Rarely the pressure is caused by a tumour or other growth. Or it may follow Bell’s palsy, in which part of the face suddenly becomes paralyzed. Many times, the cause of hemifacial spasm is not known. What are the symptoms? The symptoms are: spasms of muscles in one side of the face only excessive tearing spasms of the corner of the mouth, which may cause problems eating, swallowing, and speaking Usually the spasms start around the eyes and go down the face. Less often they start around the mouth and go up to the forehead. How are hemifacial spasms treated? Medicines may help stop the muscle spasms. But often what works for one person may not work for another. Also, the benefits may not last very long. You will need to work closely with your provider to find out what medicine and dosage work for you. Very small amounts of a medicine called botulinum toxin A (Botox) can be injected into the muscles near the facial nerve. These injections stop the muscle spasms for several months for some people. The injections usually need to be repeated every 3 months. Sometimes surgery is needed to stop the spasms. The surgeon moves the blood vessel off of the facial nerve. This stops or reduces the spasms in many cases. The surgery is most successful for people who have had symptoms for a short time. How can hemifacial spasms be prevented? There is nothing you can do to prevent hemifacial spasms What is horner’s syndrome Horner’s syndrome is ptosis, miosis, and anhidrosis due to dysfunction of cervical sympathetic output. Aetiology Horner’s syndrome results when the cervical sympathetic pathway running from the hypothalamus to the eye is disrupted. The causative lesion may be primary (including congenital) or secondary to another disorder. Lesions are usually divided into Central (e.g., brain stem ischemia, syringomyelia, brain tumour) Peripheral (e.g., Pancoast’s tumour, cervical adenopathy, neck and skull injuries, aortic or carotid dissection, thoracic aortic aneurysm) Peripheral lesions may be preganglionic or postganglionic in origin. Symptoms and Signs Symptoms include ptosis, miosis, anhidrosis, and hyperaemia of the affected side. In the congenital form, the iris does not become pigmented and remains blue-grey. Diagnosis Cocaine eye drop test MRI or CT to diagnose cause Liquid cocaine 10% can be applied to the affected eye; poor pupillary dilation after 30 min indicates Horner’s syndrome. If results are positive, 1% hydroxy amphetamine solution or 5% N-methyl hydroxy amphetamine can be applied to the eye 48 h later to determine whether the lesion is preganglionic (if the pupil dilates) or postganglionic (if the pupil does not dilate). Patients with Horner’s syndrome require MRI or CT of the brain, spinal cord, chest, or neck, depending on clinical suspicion. Treatment The cause, if identified, is treated; there is no treatment for primary Horner’s syndrome. What is Huntington’s disease? Huntington’s disease is an autosomal dominant disorder characterized by chorea and progressive cognitive deterioration, usually beginning in middle age. Diagnosis is by genetic testing. Treatment is supportive. First-degree relatives are encouraged to have genetic testing. Huntington’s disease affects both sexes equally. The caudate nucleus atrophies, the inhibitory medium spiny neurons in the corpus striatum degenerate, and levels of the neurotransmitters γ-aminobutyric acid (GABA) and substance P decrease. Huntington’s disease results from a gene mutation causing abnormal repetition of the DNA sequence CAG that codes for the amino acid glutamine. The resulting gene product, a large protein called huntingtin, has an expanded stretch of polyglutamine residues, which leads to disease via unknown mechanisms. The more CAG repetitions, the earlier the disease begins and the more severe the effects. The number of repeats can increase with successive generations and, over time, lead to a more severe phenotype within a family tree. Symptoms and Signs Symptoms and signs develop insidiously, starting at about age 35 to 50 but can develop before adulthood. Dementia or psychiatric disturbances (eg, depression, apathy, irritability, anhedonia, antisocial behavior, full-blown bipolar or schizophreniform disorder) develop before or simultaneously with the movement disorder. Abnormal movements appear; they include myoclonic jerks or irregular movements of the extremities, a lilting gait (like a puppet’s), facial grimacing, ataxia, and inability to sustain a motor act (motor impersistence) such as tongue protrusion. The disorder progresses, making walking impossible, swallowing difficult, and dementia severe. Most patients eventually require institutionalization. Death usually occurs 13 to 15 yr. after symptoms begin. The cause is usually pneumonia or coronary artery disease Diagnosis Clinical evaluation, confirmed by genetic testing MRI to rule out other causes Diagnosis is based on typical symptoms and signs plus a positive family history and is confirmed by genetic testing. Neuroimaging is done to exclude other disorders; in advanced Huntington’s disease, MRI and CT coronal views show boxcar ventricles (ie, squared-off edges due to atrophy of the caudate head). Treatment Supportive measures Genetic counselling Because the disease is progressive, end-of-life care should be discussed early (see The Dying Patient). Treatment is supportive. Chorea and agitation may be partially suppressed by antipsychotics (eg, chlorpromazine 25 to 300 mg po tid, haloperidol 5 to 45 mg po bid); dose is increased until intolerable or undesirable adverse effects (eg, lethargy, parkinsonism) occur. Alternatively, tetrabenazine may be used. The dose is started at 12.5 mg po once/day; dosage is increased (to 12.5 mg bid in the 2nd wk., 12.5 mg tid in the 3rd wk., up to a total of 100 mg/day divided into 3 doses) until intolerable adverse effects (eg, sedation, akathisias, parkinsonism, depression) occur or chorea resolves. Experimental therapies aim to reduce glutamatergic neurotransmission via the N-methyl-d-aspartate receptor and bolster mitochondrial energy production. Treatment to supplement GABA in the brain has been ineffective. People who have 1st-degree relatives with the disease should have genetic testing and counselling (see also Prenatal Genetic Counselling and Evaluation) because people are likely to have children before symptoms appear. If such people are interested in testing, they are referred to centers that have expertise in dealing with the complex ethical and psychologic issues involved. What is Huntington’s chorea? (Huntington’s Chorea; Chronic Progressive Chorea; Hereditary Chorea) Huntington’s disease is an autosomal dominant disorder characterized by chorea and progressive cognitive deterioration, usually beginning in middle age. Diagnosis is by genetic testing. Treatment is supportive. First-degree relatives are encouraged to have genetic testing. Huntington’s disease affects both sexes equally. The caudate nucleus atrophies, the inhibitory medium spiny neurons in the corpus striatum degenerate, and levels of the neurotransmitters γ-aminobutyric acid (GABA) and substance P decrease. Huntington’s disease results from a gene mutation causing abnormal repetition of the DNA sequence CAG that codes for the amino acid glutamine. The resulting gene product, a large protein called huntingtin, has an expanded stretch of polyglutamine residues, which leads to disease via unknown mechanisms. The more CAG repetitions, the earlier the disease begins and the more severe the effects. The number of repeats can increase with successive generations and, over time, lead to a more severe phenotype within a family tree. Symptoms and signs develop insidiously, starting at about age 35 to 50 but can develop before adulthood. Dementia or psychiatric disturbances (eg, depression, apathy, irritability, anhedonia, antisocial behaviour, full-blown bipolar or schizophreniform disorder) develop before or simultaneously with the movement disorder. Abnormal movements appear; they include myoclonic jerks or irregular movements of the extremities, a lilting gait (like a puppet’s), facial grimacing, ataxia, and inability to sustain a motor act (motor impersistence) such as tongue protrusion. The disorder progresses, making walking impossible, swallowing difficult, and dementia severe. Most patients eventually require institutionalization. Death usually occurs 13 to 15 yr. after symptoms begin. The cause is usually pneumonia or coronary artery disease Clinical evaluation, confirmed by genetic testing MRI to rule out other causes Diagnosis is based on typical symptoms and signs plus a positive family history and is confirmed by genetic testing. Neuroimaging is done to exclude other disorders; in advanced Huntington’s disease, MRI and CT coronal views show boxcar ventricles (ie, squared-off edges due to atrophy of the caudate head). Because the disease is progressive, end-of-life care should be discussed early. Treatment is supportive. Chorea and agitation may be partially suppressed by antipsychotics (eg, chlorpromazine 25 to 300 mg po tid, haloperidol 5 to 45 mg po bid); dose is increased until intolerable or undesirable adverse effects (eg, lethargy, parkinsonism) occur. Alternatively, tetrabenazine may be used. The dose is started at 12.5 mg po once/day; dosage is increased (to 12.5 mg bid in the 2nd wk., 12.5 mg tid in the 3rd week, up to a total of 100 mg/day divided into 3 doses) until intolerable adverse effects (eg, sedation, akathisias, parkinsonism, depression) occur or chorea resolves. Experimental therapies aim to reduce glutamatergic neurotransmission via the N-methyl-d-aspartate receptor and bolster mitochondrial energy production. Treatment to supplement GABA in the brain has been ineffective. People who have 1st-degree relatives with the disease should have genetic testing and counselling (see also Prenatal Genetic Counselling and Evaluation) because people are likely to have children before symptoms appear. If such people are interested in testing, they are referred to centres that have expertise in dealing with the complex ethical and psychologic issues involved. What is internuclear ophthalmoplegia? Internuclear ophthalmoplegia is characterized by paresis of eye adduction in horizontal gaze but not in convergence. It can be unilateral or bilateral. During horizontal gaze, the medial longitudinal fasciculus (MLF) on each side of the brain stem enables abduction of one eye to be coordinated with adduction of the other. The MLF connects the following structures: 6th cranial nerve nucleus (which controls the lateral rectus, responsible for abduction) Adjacent horizontal gaze center (paramedian pontine reticular formation) Contralateral 3rd cranial nerve nucleus (which controls the medial rectus, responsible for adduction) The MLF also connects the vestibular nuclei with the 3rd cranial nerve nuclei. Internuclear ophthalmoplegia results from a lesion in the MLF. In young people, the disorder is commonly caused by multiple sclerosis and may be bilateral. In the elderly, internuclear ophthalmoplegia is typically caused by stroke and is unilateral. Occasionally, the cause is Arnold-Chiari malformation, neurosyphilis, Lyme disease, tumour, head trauma, nutritional disorders (eg, Wernicke encephalopathy, pernicious anaemia), or drug intoxication (eg, with tricyclic antidepressants or opioids). If a lesion in the MLF blocks signals from the horizontal gaze center to the 3rd cranial nerve, the eye on the affected side cannot adduct (or adducts weakly) past the midline. The affected eye adducts normally in convergence because convergence does not require signals from the horizontal gaze center. This finding distinguishes internuclear ophthalmoplegia from 3rd cranial nerve palsy, which impairs adduction in convergence (this palsy also differs because it causes limited vertical eye movement, ptosis, and pupillary abnormalities). During horizontal gaze to the side opposite the affected eye, images are horizontally displaced, causing diplopia; nystagmus often occurs in the abducting eye. Sometimes vertical bilateral nystagmus occurs during attempted upward gaze. Treatment is directed at the underlying disorder. One-and-a-half syndrome: This uncommon syndrome occurs if a lesion affects the horizontal gaze center and the MLF on the same side. The eyes cannot move horizontally to either side, but the eye on the side opposite the lesion can abduct; convergence is unaffected. Causes include multiple sclerosis, infarction, hemorrhage, and tumour. With treatment (eg, radiation therapy for a tumour, treatment of multiple sclerosis), improvement may occur but is often limited after infarction. What is multiple system atrophy? Multiple system atrophy is a relentlessly progressive neurodegenerative disorder causing pyramidal, cerebellar, and autonomic dysfunction. It includes 3 disorders previously thought to be distinct: olivopontocerebellar atrophy, striatonigral degeneration, and Shy-Drager syndrome. Symptoms include hypotension, urinary retention, constipation, ataxia, rigidity, and postural instability. Diagnosis is clinical. Treatment is symptomatic, with volume expansion, compression garments, and vasoconstrictor drugs. Multiple system atrophy affects about twice as many men as women. Mean age at onset is about 53 year; after symptoms appear, patients live about 9 to 10 yr. Aetiology is unknown, but neuronal degeneration occurs in several areas of the brain; the area and amount damaged determine initial symptoms. A characteristic finding is cytoplasmic inclusion bodies containing α-synuclein within oligodendroglial cells. What are the Symptoms and Signs of Multiple System Atrophy? Initial symptoms vary but include a combination of parkinsonism unresponsive to levodopa, cerebellar abnormalities, and symptoms due to autonomic insufficiency. Parkinsonian symptoms: These symptoms predominate in striatonigral degeneration. They include rigidity, bradykinesia, postural instability, and jerky postural tremor. High-pitched, quavering dysarthria is common. In contrast to Parkinson’s disease, multiple system atrophy usually does not cause resting tremor and dyskinesia, and symptoms respond poorly and transiently to levodopa. Cerebellar abnormalities: These abnormalities predominate in olivopontocerebellar atrophy. They include ataxia, dysmetria, dysdiadochokinesia (difficulty performing rapidly alternating movements), poor coordination, and abnormal eye movements. Autonomic symptoms: Typically, autonomic insufficiency causes orthostatic hypotension (symptomatic fall in BP when a person stands, often with syncope, urinary retention or incontinence, constipation, and erectile dysfunction. Other autonomic symptoms, which may occur early or late, include decreased sweating, difficulty breathing and swallowing, faecal incontinence, and decreased tearing and salivation. REM sleep behaviour disorder (eg, speech or skeletal muscle movement during REM sleep) and respiratory stridor are common. Patients are often unaware of REM sleep behaviour disorder. Patients may have nocturnal polyuria; contributing factors may include a circadian decrease in arginine vasopressin and treatments used to increase blood volume. How is the clinical evaluation of Multiple System Atrophy done? Clinical evaluation (parkinsonism or cerebellar symptoms that respond poorly to levodopa plus autonomic failure) MRI Diagnosis is suspected clinically, based on the combination of autonomic failure and parkinsonism or cerebellar symptoms. Similar symptoms may result from Parkinson’s disease, Lewy body dementia, pure autonomic failure, autonomic neuropathies, progressive supranuclear palsy, multiple cerebral infarcts, or drug-induced parkinsonism. No diagnostic test is definitive, but MRI abnormalities in the striatum, pons, and cerebellum strongly suggest the disorder. Multiple system atrophy can be diagnosed antemortem based on these findings plus symptoms of generalized autonomic failure and lack of response to levodopa. What is the treatment of multiple system atrophy? Supportive care There is no specific treatment, but symptoms are managed as follows: Orthostatic hypotension: Treatment includes intravascular volume expansion with salt and water supplementation and sometimes fludrocortisone 0.1 to 0.4 mg po once/day. Use of compression garments for the lower body (eg, abdominal binder, Jobst stockings) and α-adrenoreceptor stimulation with midodrine 10 mg po tid may help. However, midodrine also increases peripheral vascular resistance and supine BP, which may be problematic. Raising the head of the bed about 10 cm reduces nocturnal polyuria and supine hypertension and may reduce morning orthostatic hypotension. Parkinsonism: Levodopa/carbidopa 25/100 mg po at bedtime or pergolide 0.1 mg po once/day, titrated upward to 0.25 to 1.0 mg tid, may be tried to relieve rigidity and other parkinsonian symptoms, but these drugs are usually ineffective or provide modest benefit. Urinary incontinence: If the cause is detrusor hyperreflexia, oxybutynin chloride 5 mg po tid or tolterodine 2 mg po bid may be used. Urinary retention: Many patients must self-catheterize their bladder. Constipation: A high-fibre diet and stool softeners can be used; for refractory cases, enemas may be necessary. Erectile dysfunction: Drugs such as sildenafil 50 mg po prn and various physical means can be used (see Male Sexual Dysfunction: Treatment). What is myoclonus? Myoclonus is a brief, shock like contraction of a muscle or group of muscles. Diagnosis is clinical and by selective testing. Treatment includes correction of reversible causes and sometimes oral drugs (eg, clonazepam, valproate). Physiologic myoclonus may occur as a person falls asleep (nocturnal myoclonus). Myoclonus can result from other disorders and certain drugs. The most common causes are hypoxia, drug toxicity, and metabolic disturbances; other causes include degenerative disorders affecting the basal ganglia and some dementias. Myoclonus may be focal, segmental (contiguous areas), multifocal (non-contiguous areas), or generalized. Causes of Myoclonus Degeneration of the basal ganglia Lewy body dementia Huntington’s disease Parkinson’s disease Progressive supranuclear palsy Dementias Alzheimer’s disease Creutzfeldt-Jakob disease Metabolic disturbances Hypercapnia Hyperglycemia, nonketotic Hypocalcemia Hypoglycemia Hypomagnesemia Hyponatremia Liver failure Uremia Physical and hypoxic encephalopathies Electric shock Heatstroke Hypoxia Traumatic brain injury Toxic encephalopathies DDT Heavy metals (including bismuth) Methyl bromide Viral encephalopathies Encephalitis lethargica Herpes simplex encephalitis Postinfectious encephalitis Subacute sclerosing panencephalitis Drugs Antihistamines* Carbamazepine Cephalosporins* Levodopa† Lithium MAO inhibitors* Opioids (usually dose related) Penicillin* Phenytoin Tricyclic antidepressants* Valproate At toxic or high doses. †With long-term treatment; dose-related. DDT = dichlorodiphenyltrichloroethane; MAO = monoamine oxidase. What is Symptoms and Signs of myoclonus? Myoclonus can vary in amplitude, frequency, and distribution. Muscle jerks may be induced by a stimulus (eg, sudden noise, movement, light, visual threat). Myoclonus that occurs when patients are suddenly startled (startle myoclonus) may be an early symptom of Creutzfeldt-Jacob disease. Myoclonus due to severe closed head trauma or hypoxic-ischemic brain damage may worsen with purposeful movements (action myoclonus) or may occur spontaneously when movement is limited because of injury. Myoclonus due to metabolic disturbances may be multifocal, asymmetric, and stimulus-induced; it usually involves facial or proximal limb muscles. If the disturbance persists, generalized myoclonic jerks and, ultimately, seizures may occur. Diagnosis Diagnosis is clinical. Testing is done based on clinically suspected causes. What is Treatment of myoclonus? Correction of metabolic disturbance Drug therapy to relieve symptoms Treatment begins with correction of underlying metabolic disturbances. For symptom relief, clonazepam 0.5 to 2 mg po tid is often effective. Valproate 250 to 500 mg po bid or levetiracetam 250 to 500 mg po once/day to bid may be effective; rarely, other anticonvulsants help. Doses of clonazepam or valproate may need to be lower in the elderly. Many forms of myoclonus respond to the serotonin precursor 5-hydroxytryptophan (initially, 25 mg po qid, increased to 150 to 250 mg po qid), which must be used with the oral decarboxylase inhibitor carbidopa (50 mg every morning and 25 mg at noon or 50 mg every evening and 25 mg at bedtime). What is NMDA encephalitis? A severe form of encephalitis associated with antibodies against NR1–NR2 heteromers of the NMDA receptor was recently identified. Anti-NMDA receptor encephalitis is a type of brain inflammation due to antibodies. Early symptoms may include fever, headache, and feeling tired. This is then typically followed by psychosis which presents with false beliefs (delusions) and seeing or hearing things that others do not see or hear (hallucinations). People are also often agitated or confused. Over time seizures, decreased breathing, and blood pressure and heart rate variability typically occur. About half of cases are associated with tumors, most commonly teratomas of the ovaries. Another established trigger is herpes viral encephalitis, while the cause in others cases is unclear. The underlying mechanism is autoimmune with the primary target the GluN1 subunit of the N-methyl D-aspartate receptors (NMDAR) in the brain.[1][6] Diagnosis is typically based on finding specific antibodies in the cerebral spinal fluid.[1] MRI of the brain is often normal.[2] Misdiagnosis is common. Prior to the development of a symptom complex that is specific to anti-NMDA receptor encephalitis, people may experience prodromal symptoms, including headaches, flu-like illness, or symptoms similar to an upper respiratory infection. These symptoms may be present for weeks or months prior to disease onset. Beyond the prodromal symptoms, the disease progresses at varying rates, and patients may present with a variety of neurologic symptoms. During the initial stage of the disease, symptoms vary slightly between children and adults. However, behavior changes are a common first symptom within both groups. These changes often include agitation, paranoia, psychosis, and violent behaviours. Other common first manifestations include seizures and bizarre movements, mostly of the lips and mouth, but also including pedalling motions with the legs or hand movements resembling playing a piano. Some other symptoms typical during the disease onset include impaired cognition, memory deficits, and speech problems (including aphasia, perseveration or mutism). The symptoms usually appear psychiatric in nature, which may confound the differential diagnosis. In many cases, this leads to the illness going undiagnosed. As the disease progresses, the symptoms become medically urgent and often include autonomic dysfunction, hypoventilation, cerebellar ataxia, loss of feeling on one side of the body, loss of consciousness, or catatonia. One distinguishing characteristic of anti-NMDA receptor encephalitis is the concurrent presence of many of the above listed symptoms. The majority of patients experience at least four symptoms, with many experiencing six or seven over the course of the disease. What is NET? Serum gastrin levels exceeding 1000pg/ml (normal, <100) usually raise the suspicion for a neuroendocrine tumour (NET) that secretes gastrin. Rarely, such elevated gastrin levels are seen in patients with pernicious anaemia which most commonly is associated with autoimmune gastritis (AG). AG can occur concomitantly with other autoimmune disorders including lymphocytic colitis (LC). Gastrin stimulates enterochromaffin-like cells which increase histamine secretion. Histamine excess can cause diarrhoea as can bacterial overgrowth or LC. We present a 57-year-old woman with diarrhoea, sporadic epigastric pain, and bloating. She also had a history of interstitial cystitis and took pentosanpolysulfate and cetirizine. She had no history of ulcers, renal impairment or carcinoid syndrome. Fasting serum gastrin was 1846pg/ml. Esophagoduodenal gastroscopy and biopsies revealed chronic gastritis and a pH of 7 with low stomach acid. Serum gastrin and plasma chromogranin A were suggestive of a gastrinoma or NET. Pernicious anaemia was unlikely. Imaging studies did not reveal any tumour. Random colonic biopsy was compatible with LC, possibly explaining her diarrhoea, although we also considered excessive histamine from elevated gastrin, bacterial overgrowth, and pentosanpolysulfate which can cause diarrhoea and be misleading in this setting, pointing to the diagnosis of gastrinoma. At 4year follow-up in 2012, fasting serum gastrin was 1097pg/ml and the patient asymptomatic taking only cetirizine for nasal allergies. This case illustrates that diarrhoea may be associated with very high serum gastrin levels in the setting of chronic gastritis, LC, and interstitial cystitis (pentosan use), without clear evidence for a gastrinoma or NET. If no history of ulcers or liver metastases is present in such cases, watchful observation rather than an extensive/invasive and costly search for a NET may be justified. Considering the various forms of polyglandular syndrome, this may represent a variant and we here provide an algorithm for working up such patients, while also reviewing literature on the intertwined relationship between the immune and endocrine systems. What are neuro ophthalmological disorders? Dysfunction of certain cranial nerves may affect the eye, pupil, optic nerve, or extraocular muscles and their nerves; thus, they can be considered cranial nerve disorders, neuro-ophthalmologic disorders, or both. Neuro-ophthalmologic disorders may also involve dysfunction of the central pathways that control and integrate ocular movement and vision. Cranial nerve disorders can also involve dysfunction of smell, vision, chewing, facial sensation or expression, taste, hearing, balance, swallowing, phonation, head turning and shoulder elevation, or tongue movements. One or more cranial nerves may be affected. What is neuromyelitis optica? Neuromyelitis optica affects only the eyes and spinal cord. It causes acute optic neuritis, sometimes bilateral, plus demyelination of the cervical or thoracic spinal cord. Neuromyelitis optica was previously considered to be a variant of multiple sclerosis (MS) but is now recognized as a different disorder. Symptoms include visual loss, paraparesis or quadriparesis, and incontinence. Diagnosis is by Brain and spinal cord MRI and Visual evoked potentials. Diagnosis usually includes brain and spinal cord MRI and visual evoked potentials. Blood tests to measure an IgG antibody specific for neuromyelitis optica (NMO-IgG) may be done to differentiate it from MS. Treatment Corticosteroids and immunomodulatory or immunosuppressive treatments There is no cure. However, treatment can prevent, slow, or decrease the severity of exacerbations. Methylprednisolone and azathioprine are often used. Plasma exchange may help people who do not respond to corticosteroids. Rituximab, an anti–B-cell antibody, reduces IgG production and has been shown to be disease-stabilizing. Treatment of symptoms is similar to that for MS (see Demyelinating Disorders: Symptom control). Baclofen or tizanidine may relieve muscle spasms. What is neuropathic pain? Neuropathic pain results from damage to or dysfunction of the peripheral or central nervous system, rather than stimulation of pain receptors. Diagnosis is suggested by pain out of proportion to tissue injury, dysesthesia (eg, burning, tingling), and signs of nerve injury detected during neurologic examination. Although neuropathic pain responds to opioids, treatment is often with adjuvant drugs (eg, antidepressants, anticonvulsants, baclofen, topical drugs). Pain can develop after injury to any level of the nervous system, peripheral or central; the sympathetic nervous system may be involved (causing sympathetically maintained pain). Specific syndromes include postherpetic neuralgia (see Herpesviruses: Symptoms and Signs), root avulsions, painful traumatic mononeuropathy, painful polyneuropathy (particularly due to diabetes), central pain syndromes (potentially caused by virtually any lesion at any level of the nervous system), postsurgical pain syndromes (eg, postmastectomy syndrome, post thoracotomy syndrome, phantom pain), and complex regional pain syndrome. Peripheral nerve injury or dysfunction can result in neuropathic pain. Examples are mononeuropathies (eg, carpal tunnel syndrome, radiculopathy), plexopathies (typically caused by nerve compression, as by a neuroma, tumor, or herniated disk), and polyneuropathies (typically caused by various metabolic neuropathies—see Table 1: Peripheral Nervous System and Motor Unit Disorders: Causes of Peripheral Nervous System Disorders). Mechanisms presumably vary and may involve an increased number of Na channels on regenerating nerves. Central neuropathic pain syndromes appear to involve reorganization of central somatosensory processing; the main categories are deafferentation pain and sympathetically maintained pain. Both are complex and, although presumably related, differ substantially. Deafferentation pain is due to partial or complete interruption of peripheral or central afferent neural activity. Examples are postherpetic neuralgia, central pain (pain after CNS injury), and phantom pain (pain felt in the region of an amputated body part). Mechanisms are unknown but may involve sensitization of central neurons, with lower activation thresholds and expansion of receptive fields. Sympathetically maintained pain depends on efferent sympathetic activity. Complex regional pain syndrome sometimes involves sympathetically maintained pain. Other types of neuropathic pain may have a sympathetically maintained component. Mechanisms probably involve abnormal sympathetic-somatic nerve connections (ephapses), local inflammatory changes, and changes in the spinal cord. Dysesthesias (spontaneous or evoked burning pain, often with a superimposed lancinating component) are typical, but pain may also be deep and aching. Other sensations—eg, hyperesthesia, hyperalgesia, allodynia (pain due to a no noxious stimulus), and hyperpathia (particularly unpleasant, exaggerated pain response)—may also occur. Symptoms are long-lasting, typically persisting after resolution of the primary cause (if one was present) because the CNS has been sensitized and remodelled. Diagnosis Clinical evaluation Neuropathic pain is suggested by its typical symptoms when nerve injury is known or suspected. The cause (eg, amputation, diabetes) may be readily apparent. If not, the diagnosis often can be assumed based on the description. Pain that is ameliorated by sympathetic nerve block is sympathetically maintained pain. What is treatment of neuropathic pain? Multimodal therapy (eg, psychologic treatments, physical methods, antidepressants or anticonvulsants, sometimes surgery). Without concern for diagnosis, rehabilitation, and psychosocial issues, treatment has a limited chance of success. For peripheral nerve lesions, mobilization is needed to prevent trophic changes, disuse atrophy, and joint ankylosis. Surgery may be needed to alleviate compression. Psychologic factors must be constantly considered from the start of treatment. Anxiety and depression must be treated appropriately. When dysfunction is entrenched, patients may benefit from the comprehensive approach provided by a pain clinic. Several classes of drugs are moderately effective (see Table 4: Pain: Drugs for Neuropathic Pain; see also the practice guideline Advances in neuropathic pain: diagnosis, mechanisms, and treatment recommendations), but complete or near-complete relief is unlikely. Antidepressants and anticonvulsants are most commonly used. Evidence of efficacy is strong for several antidepressants and anticonvulsants. Opioid analgesics can provide some relief but are less effective than for nociceptive pain; adverse effects may prevent adequate analgesia. Topical drugs and a lidocaine -containing patch may be effective for peripheral syndromes. Sympathetic blockade is usually ineffective except for some patients with complex regional pain syndrome. What is Complex Regional Pain Syndrome (Reflex Sympathetic Dystrophy and Causalgia)? Complex regional pain syndrome (CRPS) is chronic neuropathic pain that follows soft-tissue or bone injury (type I) or nerve injury (type II) and lasts longer and is more severe than expected for the original tissue damage. Other manifestations include autonomic changes (eg, sweating, vasomotor abnormalities), motor changes (eg, weakness, dystonia), and trophic changes (eg, skin or bone atrophy, hair loss, joint contractures). Diagnosis is clinical. Treatment includes drugs, physical therapy, and sympathetic blockade. CRPS type I typically follows an injury (usually of a hand or foot), most commonly after crush injuries, especially in a lower limb. It may follow amputation, acute MI, stroke, or cancer (eg, lung, breast, ovary, CNS); no precipitant is apparent in about 10% of patients. CRPS type II is similar to type I but involves overt damage to a peripheral nerve. Pathophysiology is unclear, but peripheral nociceptor and central sensitization and release of neuropeptides (substance P, calcitonin gene-related peptide) help maintain pain and inflammation. The sympathetic nervous system is more involved in CRPS than in other neuropathic pain syndromes: Central sympathetic activity is increased, and peripheral nociceptors are sensitized to norepinephrine (a sympathetic neurotransmitter); these changes may lead to sweating abnormalities and poor blood flow due to vasoconstriction. Nonetheless, only some patients respond to sympathetic manipulation (ie, central or peripheral sympathetic blockade). What are Symptoms and Signs of Complex Regional Pain Syndrome? Symptoms vary greatly and do not follow a pattern; they include sensory, focal autonomic (vasomotor or sudomotor), and motor abnormalities. Pain—burning or aching—is common. It does not follow the distribution of a single peripheral nerve; it may worsen with changes in environment or emotional stress. Allodynia and hyperalgesia may occur. Pain often causes patients to limit use of an extremity. Cutaneous vasomotor changes (eg, red, mottled, or ashen colour; increased or decreased temperature) and sudomotor abnormalities (dry or hyperhidrotic skin) may be present. Oedema may be considerable and locally confined. Other symptoms include trophic abnormalities (eg, shiny, atrophic skin; cracking or excess growth of nails; bone atrophy; hair loss) and motor abnormalities (weakness, tremors, spasm, dystonia with fingers fixed in flexion or equinovarus position of foot). Range of motion is often limited, sometimes leading to joint contractures. Symptoms may interfere with fitting a prosthesis after amputation. Psychologic distress (eg, depression, anxiety, anger) is common, fostered by the poorly understood cause, lack of effective therapy, and prolonged course. What is Clinical evaluation of Complex Regional Pain Syndrome? The following clinical criteria must be present to establish the diagnosis of CRPS: Occurrence of pain (usually burning) Allodynia or hyperalgesia Focal autonomic dysregulation (vasomotor or sudomotor abnormalities) No evidence of another disorder that could explain the symptoms If another disorder is present, CRPS should be considered possible or probable. Other symptoms and findings may support the diagnosis: oedema, trophic abnormalities, or a change in temperature of the affected area. Thermography may be used to document the temperature change if clinical evaluation is equivocal and if this finding would help establish the diagnosis. Bone changes (eg, demineralization on x-ray, increased uptake on a triple-phase radionuclide bone scan) may be detected and are usually evaluated only if the diagnosis is equivocal. However, imaging tests may also be abnormal after trauma in patients without CRPS. Sympathetic nerve block (cervical stellate ganglion or lumbar) can be used for diagnosis and treatment. However, false-positive and false-negative results are common because not all CRPS pain is sympathetically maintained and nerve block may also affect non -sympathetic fibres. In another test of sympathetic involvement, a patient is given IV infusions of saline (placebo) or phentolamine 1 mg/kg over 10 min while pain scores are recorded; a decrease in pain after phentolamine but not placebo indicates sympathetically maintained pain. What is the Treatment of Complex Regional Pain Syndrome? Multimodal therapy (eg, drugs, physical therapy, sympathetic blockade, psychologic treatments, neuromodulation) Treatment is complex and often unsatisfactory, particularly if begun late. It includes drugs, physical therapy, sympathetic blockade, psychologic treatments, and neuromodulation. Few controlled trials have been done. Many of the drugs used for neuropathic pain, including tricyclic antidepressants, anticonvulsants, and corticosteroids (see Table 4: Pain: Drugs for Neuropathic Pain), may be tried; none is known to be superior. Long-term treatment with opioid analgesics may be useful for selected patients. In some patients with sympathetically maintained pain, regional sympathetic blockade relieves pain, making physical therapy possible. Oral analgesics (NSAIDs, opioids, and various adjuvant analgesics) may also relieve pain sufficiently to allow rehabilitation. For neuromodulation, implanted spinal cord stimulators are being increasingly used. Transcutaneous electrical nerve stimulation (TENS), applied at multiple locations with different stimulation parameters, should be given a long trial. Other methods of neuromodulation include brisk rubbing of the affected part (counterirritation) and acupuncture. No one form of neuromodulation is known to be more effective than another, and a poor response to one form does not mean a poor response to another. Neuraxial infusion with opioids, anaesthetics, and clonidine may help, and intrathecal baclofen has reduced dystonia in a few patients. Physical therapy is essential. Goals include strengthening, increased range of motion, and vocational rehabilitation. What is the autonomic nervous system? The autonomic nervous system (ANS) regulates physiologic processes. Regulation occurs without conscious control, ie, autonomously. The 2 major divisions are the sympathetic and parasympathetic systems. Disorders of the ANS cause autonomic insufficiency or failure and can affect any system of the body. Anatomy The ANS receives input from parts of the CNS that process and integrate stimuli from the body and external environment. These parts include the hypothalamus, nucleus of the solitary tract, reticular formation, amygdala, hippocampus, and olfactory cortex. The sympathetic and parasympathetic systems each consist of 2 sets of nerve bodies: one set (called preganglionic) in the CNS, with connections to another set-in ganglia outside the CNS. Efferent fibers from the ganglia (postganglionic fibers) lead to effector organs Sympathetic: The preganglionic cell bodies of the sympathetic system are located in the intermediolateral horn of the spinal cord between T1 and L2 or L3. The sympathetic ganglia are adjacent to the spine and consist of the vertebral (sympathetic chain) and prevertebral ganglia, including the superior cervical, celiac, superior mesenteric, inferior mesenteric, and aorticorenal ganglia. Long fibers run from these ganglia to effector organs, including the smooth muscle of blood vessels, viscera, lungs, scalp (piloerector muscles), and pupils; the heart; and glands (sweat, salivary, and digestive). Parasympathetic: The preganglionic cell bodies of the parasympathetic system are located in the brain stem and sacral portion of the spinal cord. Preganglionic fibers exit the brain stem with the 3rd, 7th, 9th, and 10th (vagus) cranial nerves and exit the spinal cord at S2 and S3; the vagus nerve contains about 75% of all parasympathetic fibers. Parasympathetic ganglia (eg, ciliary, sphenopalatine, otic, pelvic, and vagal ganglia) are located within the effector organs, and postganglionic fibers are only 1 or 2 mm long. Thus, the parasympathetic system can produce specific, localized responses in effector organs, such as blood vessels of the head, neck, and thoracoabdominal viscera; lacrimal and salivary glands; smooth muscle of glands and viscera (eg, liver, spleen, colon, kidneys, bladder, genitals); and ocular muscles. The ANS controls BP, heart rate, body temperature, weight, digestion, metabolism, fluid and electrolyte balance, sweating, urination, defecation, sexual response, and other processes. Many organs are controlled primarily by either the sympathetic or parasympathetic system, although they may receive input from both; occasionally, functions are reciprocal (eg, sympathetic input increases heart rate; parasympathetic decreases it). The sympathetic nervous system is catabolic; it activates fight-or-flight responses. The parasympathetic nervous system is anabolic; it conserves and restores Sympathetic Increases the following: Heart rate and contractility Bronchodilation Hepatic glycogenolysis and glucose release BMR Muscular strength Causes sweaty palms Decreases less immediately life-preserving functions (eg, digestion) Controls ejaculation Parasympathetic Stimulates GI secretions and motility (including evacuation) Slows heart rate Reduces BP Controls erection Two major neurotransmitters in the ANS are Acetylcholine: Fibers that secrete acetylcholine (cholinergic fibers) include all preganglionic fibers, all postganglionic parasympathetic fibers, and some postganglionic sympathetic fibers (those that innervate piloerectors, sweat glands, and blood vessels). Norepinephrine: Fibers that secrete norepinephrine (adrenergic fibers) include most postganglionic sympathetic fibers. Sweat glands on the palms and soles also respond to adrenergic stimulation to some degree. There are different subtypes of adrenergic receptors which vary by location. Disorders causing autonomic insufficiency or failure can originate in the peripheral or central nervous system and may be primary or secondary to other disorders. What are autonomic insufficiency? The most common causes of autonomic insufficiency are Peripheral neuropathies Aging Parkinson’s disease Other causes include Autoimmune autonomic neuropathy Multiple system atrophy Spinal cord disorders Drugs Disorders of the neuromuscular junction (eg, botulism, Lambert-Eaton syndrome) Evaluation History: Symptoms suggesting autonomic insufficiency include Orthostatic hypotension Heat intolerance Loss of bladder and bowel control Erectile dysfunction (an early symptom) Other possible symptoms include dry eyes and dry mouth, but they are less specific. Physical examination: Important parts of the examination include the following: Postural BP and heart rate: In a normally hydrated patient, a sustained (eg, > 1 min) decrease of ≥ 20 mm Hg in systolic BP or a decrease of ≥ 10 mm Hg in diastolic BP with standing suggests autonomic insufficiency. Heart rate change with respiration and standing should be noted; absence of physiologic sinus arrhythmia and failure of heart rate to increase with standing indicate autonomic insufficiency. In contrast, patients with postural tachycardia syndrome, a benign disorder, typically have postural tachycardia without hypotension (see Symptoms of Cardiovascular Disorders: Orthostatic Hypotension). Eye examination: Miosis and mild ptosis (Horner’s syndrome) suggest a sympathetic lesion. A dilated, unreactive pupil (Adie’s pupil) suggests a parasympathetic lesion. GU and rectal reflexes: Abnormal GU and rectal reflexes may indicate ANS deficits. Testing includes the cremasteric reflex (normally, stroking the upper inner thigh results in retraction of the testes), anal wink reflex (normally, stroking perianal skin results in contraction of the anal sphincter), and bulbocavernosus reflex (normally, squeezing the glans penis or clitoris results in contraction of the anal sphincter). Laboratory testing: If patients have symptoms and signs suggesting autonomic insufficiency, sudomotor, cardiovagal, and adrenergic testing is usually done to help determine severity and distribution of the insufficiency. Sudomotor testing includes the following: Quantitative sudomotor axon-reflex test: This test evaluates integrity of postganglionic neurons using iontophoresis; electrodes filled with acetylcholine are placed on the legs and wrist to stimulate sweat glands, and the volume of sweat is then measured. The test can detect decreased or absent sweat production. Thermoregulatory sweat test: This test evaluates both preganglionic and postganglionic pathways. After a dye is applied to the skin, patients enter a closed compartment that is heated to cause maximal sweating. Sweating causes the dye to change colour, so that areas of anhidrosis and hypohidrosis are apparent and can be calculated as a percentage of BSA. Cardiovagal testing evaluates heart rate response (via ECG rhythm strip) to deep breathing and to the Valsalva maneuver. If the ANS is intact, heart rate varies with these maneuver; normal responses to deep breathing and the Valsalva ratio vary by age. Adrenergic testing evaluates response of beat-to-beat BP to the following: Head-up tilt: Blood is shifted to dependent parts, causing reflex responses in BP and heart rate. This test helps differentiate autonomic neuropathies from postural tachycardia syndrome. Valsalva maneuver: This maneuver increases intrathoracic pressure and reduces venous return, causing BP changes and reflex vasoconstriction. With the head-up tilt test and Valsalva maneuver, the pattern of responses is an index of adrenergic function. Plasma norepinephrine levels can be measured with patients supine and then after they stand for > 5 min. Normally, levels increase after standing. If patients have autonomic insufficiency, levels may not increase with standing and may be low in the supine position, particularly in postganglionic disorders (eg, autonomic neuropathy, pure autonomic failure). What is PANDAS? PANDAS (Paediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections) occurs when strep triggers a misdirected immune response results in inflammation on a child’s brain. In turn, the child quickly begins to exhibit life changing symptoms such as OCD, anxiety, tics, personality changes, decline in math and handwriting abilities, sensory sensitivities, restrictive eating, and more. PANDAS Network estimates that PANDAS/PANS affects as many as 1 in 200 children. The hallmark trait for PANDAS is sudden acute and debilitating onset of intense anxiety and mood lability accompanied by Obsessive Compulsive-like issues and/or Tics in association with a streptococcal-A (GABHS) infection that has occurred immediately prior to the symptoms. In some instances, the onset will be 4 to 6 months after a strep infection because the antibiotics did not fully eradicate the bacteria. Many paediatricians do not know the latent variability of strep – Rheumatologists and Streptococcal Experts do. When strep cannot be linked to the onset of symptoms, the NIMH states one should look into the possibility of PANS (Paediatric Acute-onset Neuropsychiatric Syndromes). The acute onset means a Y-BOCS (Yale Brown Obsessive-Compulsive Scale) score of >20 and or a Chronic Tic Disorder YGTSS (Yale Global Tic Severity Scale) often with multiple tics. Below is the symptom criteria for PANDAS. Additional symptoms may be present. PANDAS has an encephalitic-like onset. Some childrens’ onsets are clearly debilitating and they become near catatonic and homebound. Other children can function at school and then fall apart at home for hours on end. BUT IT IS CLEAR – THE FORMERLY NORMALLY FUNCTIONING CHILD IS GONE. PANDAS symptoms may have flared in a lesser manner for weeks or years prior to the acute onset but often readily disappeared or lessened over time. If untreated with antibiotics generally we have seen a myriad of other symptoms will intensify in the weeks and months post-acute onset. If the severe symptoms do not stop and persist over many months, permanent cognitive damage can occur. PANDAS children may have moderate to dramatic improvement with antibiotics within one week of treatment, however, further interventions may be needed. How to stop the entire syndrome is still debated, but many parents and doctors report prolonged antibiotics (two months to one year) and/or IVIG (intravenous immunoglobulin) treatment or plasmapheresis. GENETICS We have found in our group of 100+ that about 90% of the families have a history of the following in first- or second-degree relatives on either mother’s or father’s side (parents/grandparents/aunts or uncles): 1 Autoimmune Illness 2 Bad Relationship w/Strep Infections (Repeat strep infections, Rheumatic or Scarlet Fever) 3 Child has a History of Upper Respiratory Cough, Sinus Issues or Allergies 4 Family Mental Health History of Anxiety Issues or Other Related Issues Please see the Table of Family Histories where approximately 20 parents were randomly asked to explain their family medical history. In the interest of time, we did not put all 70+ parents results on this website but in informal conversations these similarities were nearly always found. Bring this table to your doctor if it fits your family’s situation. What are Prion Diseases (Transmissible Spongiform Encephalopathies)? Prion diseases are progressive, fatal, and untreatable degenerative brain disorders. They include Creutzfeldt-Jakob disease (CJD), the prototypic example Gerstmann-Sträussler-Scheinker disease (GSS) Fatal insomnia (FI) Variant CJD (vCJD) Kuru Prion diseases usually occur sporadically, with a worldwide annual incidence of about 1/1 million. Prion diseases result from misfolding of a normal cell-surface brain protein called prion protein (PrP), whose exact function is unknown. Misfolded prion proteins (or prions) induce previously normal PrP to misfold; they are markedly resistant to degradation (similar to β-amyloid, which they resemble), resulting in slow but inexorable intracellular accumulation and neuronal cell death. Accompanying pathologic changes include gliosis and characteristic histologic vacuolar (spongiform) changes, resulting in dementia and other neurologic deficits. Symptoms and signs develop months to years after exposure. Prion diseases can be caused by spontaneous or hereditary defects of the PrP gene, contained in the short arm of chromosome 20. Some defects cause familial CJD, some cause GSS, and others cause FI. Small abnormalities in particular codons may determine the predominant symptoms and rate of disease progression. Prion diseases can also be transmitted by infected tissue. Cannibalism caused the spread of kuru in New Guinea, and prions can be transmitted via organ transplants and rarely by blood transfusion. Prion diseases can be transmitted between species via the food chain (eg, in vCJD). Prion diseases occur in mink, elk, deer, domestic sheep and cattle, and other mammals. In several western US states and Canada, chronic wasting disease of elk and deer, a prion disease, is a concern; whether this disease can be transmitted to people who hunt, butcher, or eat affected animals is unknown. Prion diseases should be considered in all patients with dementia, especially if it progresses rapidly. Treatment is symptomatic. Prions resist standard disinfection techniques and pose risks to surgeons, pathologists, and technicians who handle contaminated tissues and instruments. What are Provoked seizures? It turns out there are multiple things that can trigger a seizure, which is essentially a surge of electrical activity in the brain. And just because you have one, that doesn’t mean you’ve got epilepsy. But you should always get checked out by a doctor afterwards, says Dr. Rao. Here, six things that are known to trigger seizures even in people who don’t have a neurological condition—and what to do when a seizure strike. Stress Seizures triggered by stress look similar to epileptic seizures, mainly because they can have the same symptoms—numbness, confusion, convulsions, and more. But there are differences in the brain electrical activity between the two types. In fact, research suggests that somewhere between 5% and 20% of people with epilepsy may be misdiagnosed and, in fact, suffering from seizures provoked by anxiety or underlying trauma. Low blood sugar Your brain is a huge consumer of glucose, says Dr. Rao. When your blood sugar levels drop too low—a state called hypoglycaemia—your brain has trouble functioning normally and the result could be a seizure. Since hypoglycaemia is a potential a side effect of diabetes medications, diabetics may be at a higher risk for this type of seizure. Heatstroke You already know that playing soccer for hours on a scorching-hot day can be dangerous. In that kind of heat (and under that kind of exertion), people can have trouble cooling themselves down. Once your internal thermostat reaches about 104 degrees Fahrenheit, you risk damaging your organs, including your brain: “The brain doesn’t function as well at higher temperatures,” says Dr. Rao. Once heat illness sets in, the brain can misfire, possibly triggering a seizure. Alcohol Withdrawal An estimated 2 million people may experience alcohol withdrawal every year, according to a 2004 study in the journal American Family Physician. People can develop a tolerance to (or dependence on) alcohol, and the wiring in their brains can reflect that. So, when some people quit cold turkey, it leaves their brains in a new, altered state that can set them up for a seizure, usually within 48 hours after their last drink, says Dr. Rao. Certain medications Antidepressants like bupropion have been associated with seizures in certain studies. And some antibiotics, like penicillin and quinolones, and pain medications like tramadol might increase the risk of seizures too. Sleep deprivation Too-little sleep is a powerful trigger for seizures, says Dr. Rao. (He’s seen seizures in college students who’ve stayed up for days in a row cramming for an exam.) “No one knows the exact reason behind this,” says Dr. Rao, “but sleep is restorative. We spend one-third of our lives sleeping, so we know it’s important.” What to do if someone has a seizure? Oftentimes, less is more. Rule number one: Keep the person safe. That means making sure she doesn’t accidentally hurt herself, either on a nearby sharp object or by falling down the stairs. As Anto Bagić, MD, PhD, the chief of the epilepsy division at the University of Pittsburgh Medical Center puts it: “There’s no ‘heroic’ measure necessary.” Don’t try to restrain the person (she might panic and lash out even more aggressively) and do not put anything in her mouth (she might choke on it). Besides, it’s a myth that people can swallow their tongue during a seizure. Either give her some space or, if necessary, guide her to a safer area, Dr. Bagić explains. If she’s lying on the floor, gently turn her on her side so that her saliva doesn’t block her airway. Most seizures resolve themselves within five minutes, so if it goes on for longer than that, you should call emergency, says Dr. Bagić. More often, however, the person will regain consciousness after a few minutes—and when she does, stay calm. “When people are coming back [from a seizure], that’s when they’re at their most vulnerable,” says Dr. Bagić. “It can be scary if the first thing they see is people staring at them or panicking.” Another key point: Stay with the person until you’re sure that she’s completely recovered. Do all that, and it’ll be heroic enough. What is PSP? Progressive supranuclear palsy is a rare, degenerative CNS disorder causing loss of voluntary eye movements, bradykinesia, muscular rigidity with progressive axial dystonia, pseudobulbar palsy, and dementia. The cause of progressive supranuclear palsy is unknown. Neurons in the basal ganglia and brain stem degenerate; neurofibrillary tangles containing an abnormally phosphorylated tau protein are also present. Multiple lacunar strokes may occur in the basal ganglia and deep white matter. Symptoms usually begin in late middle age. The first symptom may be difficulty looking up without extending the neck or difficulty climbing up and down stairs. Voluntary eye movements, particularly vertical, are difficult, but reflexive eye movements are unaffected. Movements are slowed, muscles become rigid, and axial dystonia develops. Patients tend to fall backward. Dysphagia and dysarthria with emotional lability (pseudobulbar palsy) is common; these deficits occur in a stepwise progression as occurs with multiple strokes. Dementia eventually occurs. Many patients become incapacitated within about 5 yr. and die within about 10 yr. Diagnosis Diagnosis is clinical. Treatment Supportive care Treatment is unsatisfactory. Occasionally, levodopa, dopamine agonists and/or amantadine partially relieve rigidity. Because the disorder is fatal, patients should be encouraged to prepare advance directives soon after the disorder is diagnosed. These directives should indicate what kind of medical care people want at the end of life. What is pure autonomic failure? It results from neuronal loss in autonomic ganglia, causing orthostatic hypotension and other autonomic symptoms. Pure autonomic failure, previously called idiopathic orthostatic hypotension or Bradbury-Eggleston syndrome, denotes generalized autonomic failure without CNS involvement. This disorder differs from multiple system atrophy because it lacks central or preganglionic involvement. Pure autonomic failure affects more women, tends to begin during a person’s 40s or 50s, and does not result in death. Aetiology is usually unknown. Some cases are due to a synucleopathy; occasionally, the cause is an autoimmune autonomic neuropathy. The main symptom is orthostatic hypotension; there may be other autonomic symptoms, such as decreased sweating, heat intolerance, urinary retention, bladder spasms (possibly causing incontinence), erectile dysfunction, faecal incontinence or constipation, and pupillary abnormalities. Diagnosis Clinical evaluation Diagnosis is by exclusion. The norepinephrine level is usually 30 beats/min or to 120 beats/min within 10 min. Treatment Treatment is symptomatic: Orthostatic hypotension: Vasopressors and support hose Constipation: High-fiber diet and stool softeners Bladder spasms: Bladder antispasmodics Urinary retention: Possibly self-catheterization of the bladder Sweating abnormalities: Avoidance of hot conditions Why do they say time is brain? Every minute you’re not treated for a stroke you lose two million brain cells. It’s a piece of medical trivia which, remarkable as it is, hardly captures the devastation that can be wrought on a body that suffers a stroke. My patient — a jogger, a gardener, a grandfather with stories to delight children for days — could barely move the right side of his body by the time he arrived at the emergency department. As I examined him, I carefully recorded the degrees and destinations of injury. “Strength, two out of five,” I noted to a nearby colleague. “Sounds like a failing grade to me,” his wife, a former schoolteacher, said as she entered the room. We sat down and discussed the possibility of some recovery, but also that it would be a long and uncertain road. As we talked, she became more upset — not just because of the damage the stroke inflicted, but also because she felt she’d missed a chance to prevent it. Earlier that day, he’d said he felt unwell — at his age he often complained of aches and pains — but it wasn’t until after a nap, when his speech grew more garbled and he finally fell to the floor, that she called the ambulance. She felt a deep sense of guilt. The clot-busting medicine, tissue plasminogen activator (T.P.A.), used to treat strokes must be given within four and a half hours. If only she’d rushed him to the hospital sooner, she thought, his stroke might not have been as destructive as it was. What is ROP? Retinopathy of prematurity (ROP) is a potentially blinding disorder in premature infants. The underlying pathophysiology is incompletely understood, limiting the prevention and treatment of this devastating condition. Current therapies are directed toward management of aberrant neovascularization thought to result from retinal ischemia in the developing preterm retina. The molecular mediators important for development of retinal ischemia and subsequent neovascular pathology are not fully understood. However, oxygen has been shown to be a key mediator of disease and the oxygen environment for preterm infants has been extensively studied. Despite this, the optimal oxygen environment for preterm infants remains unclear and recent works seeking to clarify this relationship demonstrate somewhat disparate findings. These data further substantiate that ROP is a complex disease with multifactorial aetiology including genetic and environmental factors. Therefore, while environmental factors such as oxygen are important to our understanding of the disease process and care of preterm infants, identification of the molecular mediators downstream of oxygen which are necessary for development of ROP pathology will be critical to improve prevention, diagnosis and treatment strategies. Retinopathy of prematurity (ROP) was first described by Terry in 1942 and is now recognized as a leading cause of childhood blindness in the US and worldwide.1-3 Despite our understanding of the pathogenesis of ROP and subsequent improvements in its management, the incidence of ROP has remained constant and some sources indicate that it has increased.4 For example, the overall incidence of ROP was not significantly different between the CRYO-ROP and ETROP study populations, but the incidence of prethreshold ROP increased from 27% in the CRYO-ROP study to 37% in the ETROP study. Infants in the ETROP who developed prethreshold ROP had lower birth weight and younger gestational age than those in CRYO-ROP.4-6 These observations suggest that technologic and neonatal care advances have enabled the survival of extremely low birth weight infants which may be the reason why the incidence of ROP remains high. One important factor in ROP which has changed over time is the concentration of oxygen used. In some countries other than the US, UK, Canada, Australia and those with resources to regulate oxygen and technology to save preterm infants, 100% oxygen is still being used in neonatal nurseries. Many countries that experienced the “ROP epidemic” prior to improved technology to monitor and regulate oxygenation, now avoid high oxygen delivery at birth.7 In developing countries, technology to regulate oxygen can be available but resources to implement its regulation may not.8 Thus, the incidence of ROP and blindness from it may vary depending on the technology employed to save and care for preterm infants and regulate oxygen delivery. In the US, blindness is reported in approximately 10% of preterm infants even with standard of care treatment; however, the incidence of blindness from ROP can be 20% or higher in developing countries. In addition to the number of infants who are blinded from ROP, many infants with severe ROP have unfavourable visual and structural outcomes despite standard of care therapy.10 Therefore, ROP is an important cause of childhood blindness and visual morbidity, and the level of oxygen concentration continues to be a question. Recent studies have sought to clarify the role of oxygen in ROP but from these studies, it is apparent that questions still remain. In this report, we review some of the clinical studies on oxygen use in ROP. Ideal parameters for post-gestational oxygen supplementation in preterm infants remain unclear. Infants exposed to low oxygen levels may be at increased risk of death, cerebral palsy, patent ductus arteriosus, pulmonary vascular resistance and apnea. Those exposed to high levels of oxygen however, are reported to have greater rates of morbidity including ROP and chronic lung disease. There was no agreement in conclusions from the BOOSTII, SUPPORT, and COT trials. Reasons for this include differences in prenatal characteristics of populations enrolled into these clinical trials and potential differences in NICU technology including, measurement of oxygen saturation. There are also differences in the genetic makeup of the populations, the number of extremely preterm infants who survive, and in the diagnosis of ROP. The International Classification of ROP, although broadly adopted, depends on dilated retinal examination of preterm infants, a skill requiring adequately trained ophthalmologists, who are not always available for ROP examinations. 8 As noted in Table 1, exclusion criteria differed among these trials. The COT restrictions to enrolment may have affected survival and ROP outcomes. The BOOST and COT included infants from other areas of the world, which add factors of heterogeneity and potential variability in prenatal and neonatal management. What is responsive neurostimulator (RNS)? When Drugs and Surgery Don’t Work, it is an Option in Epilepsy. The RNS is actually an implanted device for epilepsy. It is implanted into the skull and has two leads that go into the brain where the patients’ seizure onset is located. The doctor who implants the RNS needs to know where the seizures start in each particular patient. The device will then record and screen the EEG in the brain [for activity that could lead to a seizure]. Whenever a possible seizure is recorded, it will stimulate the brain [to disrupt the] abnormal brain activity. The device has been in testing for a long, long time. We started testing it in 2005 and ran initial studies where it was shown that the RNS reduces seizure frequency in those patients. It was finally approved in 2013 by the US Food and Drug Administration (FDA) for general commercial use. Since then it has been commercially available and is approved for patients who have partial-onset seizures that are not controlled by regular antiseizure medications. RNS is an FDA-approved therapy for intractable epilepsy. What is a blood test for slipped disc? Sometimes, it’s not so easy to tell whether back pain is caused by a crushed disc in the back or something else. Studies from France showed that a blood test called phospholipase A can be used to diagnose that condition The bones of your spine are separated by pads called discs. Sudden pressure on the back can squeeze the discs between the bones and flatten them like pancakes, / to press on the nerves near them and cause pain. It’s important to tell whether the pain is caused by a slipped disc that can be corrected with surgery, or by arthritis of the spine, which cannot. This report showed that discs contain a chemical called phospholipase A that spills into the bloodstream when discs are crushed. Therefore, your doctor can use this test to help diagnose a slipped disc. Most people with slipped discs recover with rest, heat, cold, stretching, massage, manipulation, muscle strengthening and pain medication. Surgery to hammer and chisel the disc off the nerve is indicated usually only when the pain is severe or a person loses feeling or muscle control. While a lifetime of exercise does not affect susceptibility to suffering disc disease (3), prevention is to always increase exercise and work load slowly and gradually ( What is tinnitus? Tinnitus is a noise that you hear in one or both of your ears or in your head. It is a symptom, not a disease. Those who have it describe it as a ringing, buzzing, humming, heartbeat, or chirping noise. What is the cause? Tinnitus can be caused by damage, blockage, or an irritation of the hearing pathways. Or it may come from an area of the brain related to hearing. For example, it may be caused by: wax build-up in the outer ear canal fluid in the middle ear damage or disease in the inner ear a tumour of the hearing and balance nerve Some medicines can cause tinnitus. Most cases of tinnitus are related to a hearing loss. If you have tinnitus, it should be evaluated by an ear, nose and throat doctor to find what is causing the tinnitus, whether it is related to a serious problem, and if it can be helped. How is it diagnosed? It is important to find the cause of tinnitus. Tests may include: hearing tests CT scan of the ears or head MRI scan How is it treated? Tinnitus may be treated by treating the underlying cause. However, often no treatment is needed because, other than having some ear noise, you may not bother it and the underlying cause will not cause serious illness. Treatment may include: medicine to lessen or stop the tinnitus sometimes surgery to treat hearing loss or possibly remove a tumour When tinnitus is related to a hearing loss, hearing aids may reduce or stop the tinnitus. Other possible treatments include masking devices, which make a noise that blocks the sounds of the tinnitus, and tinnitus retraining therapy. Tinnitus retraining therapy combines low-level broadband noise with counselling to help you get used to the unwanted sound. Many times, tinnitus will lessen over time without treatment. Sometimes despite treatment, tinnitus does not get better. How can I prevent tinnitus or keep it from getting worse? Tinnitus is often caused by a loss of hearing. One of the most common causes for hearing loss (and tinnitus) is too much exposure to noise. Use of devices that protect your hearing, such as foam ear plugs or special ear muffs, can help. Stress and lack of sleep can also worsen tinnitus. They may be the main reasons that the tinnitus is bothersome. Some foods and non-prescription medicines can cause or worsen tinnitus. For example, caffeine in coffee, tea and soft drinks can cause or worsen tinnitus. The medicine that most often has this effect is aspirin. What is Computational neuroscience? Computational neuroscience (also theoretical neuroscience) studies brain function in terms of the information processing properties of the structures that make up the nervous system. It is an interdisciplinary computational science that links the diverse fields of neuroscience, cognitive science, and psychology with electrical engineering, computer science, mathematics, and physics. What is Computational clinical neuroscience? It is a field that brings together experts in neuroscience, neurology, psychiatry, decision sciences and computational modelling to quantitatively define and investigate problems in neurological and psychiatric diseases, and to train scientists and clinicians that wish to apply these models to diagnosis and treatment. What is rehabilitation? Rehabilitation aims to facilitate recovery from loss of function. Loss may be due to fracture, amputation, stroke or another neurologic disorder, arthritis, cardiac impairment, or prolonged deconditioning (e.g., after some disorders and surgical procedures). Rehabilitation may involve physical, occupational, and speech therapy; psychologic counselling; and social services. For some patients, the goal is complete recovery with full, unrestricted function; for others, it is recovery of the ability to do as many activities of daily living (ADLs) as possible. Results of rehabilitation depend on the nature of the loss and the patient’s motivation. Progress may be slow for elderly patients and for patients who lack muscle strength or motivation. Rehabilitation may begin in an acute care hospital. Rehabilitation hospitals or units usually provide the most extensive and intensive care; they should be considered for patients who have good potential for recovery and can participate in and tolerate aggressive therapy (generally, ≥ 3 h/day). Many nursing homes have less intensive programs (generally, 1 to 3 h/day, up to 5 days/wk.) and thus are better suited to patients less able to tolerate therapy (e.g., frail or elderly patients). Less varied and less frequent rehabilitation programs may be offered in outpatient settings or at home and are appropriate for many patients. However, outpatient rehabilitation can be relatively intensive (several hours/days up to 5 days/wk.). An interdisciplinary approach is best because disability can lead to various problems (e.g., depression, lack of motivation to regain lost function, financial problems). Thus, patients may require psychologic intervention and help from social workers or mental health practitioners. Also, family members may need help learning how to adjust to the patient’s disability and how to help the patient. Referral: To initiate formal rehabilitation therapy, a physician must write a referral/prescription to a physiatrist, therapist, or rehabilitation centre. The referral/prescription should state the diagnosis and goal of therapy. The diagnosis may be specific (e.g., after left-sided stroke, residual right-sided deficits in upper and lower extremities) or functional (e.g., generalized weakness due to bed rest). Goals should be as specific as possible (e.g., training to use a prosthetic limb, maximizing general muscle strength and overall endurance). Although vague instructions (e.g., physical therapy to evaluate and treat) are sometimes accepted, they are not in the patients’ best interests and may be rejected with a request for more specific instructions. Physicians unfamiliar with writing referrals for rehabilitation can consult a physiatrist. Goals of therapy: Initial evaluation sets goals for restoring mobility and functions needed to do ADLs, which include caring for self (e.g., grooming, bathing, dressing, feeding, toileting), cooking, cleaning, shopping, managing drugs, managing finances, using the telephone, and traveling. The referring physician and rehabilitation team determine which activities are achievable and which are essential for the patient’s independence. Once ADL function is maximized, goals that can help improve quality of life are added. Patients improve at different rates. Some courses of therapy last only a few weeks; others last longer. Some patients who have completed initial therapy need additional therapy. Patient and caregiver issues: Patient and family education is an important part of the rehabilitation process, particularly when the patient is discharged into the community. Often, the nurse is the team member primarily responsible for this education. Patients are taught how to maintain newly regained functions and how to reduce the risk of accidents (e.g., falls, cuts, burns) and secondary disabilities. Family members are taught how to help the patient be as independent as possible, so that they do not overprotect the patient (leading to decreased functional status and increased dependence) or neglect the patient’s primary needs (leading to feelings of rejection, which may cause depression or interfere with physical functioning). Emotional support from family members and friends is essential. It may take many forms. Spiritual support and counselling by peers or by religious advisors can be indispensable for some patients. Geriatric Rehabilitation Disorders requiring rehabilitation (e.g., stroke, MI, hip fracture, limb amputation) are common among the elderly. The elderly are also more likely to have become deconditioned before the acute problem that necessitates rehabilitation. The elderly, even if cognitively impaired, can benefit from rehabilitation. Age alone is not a reason to postpone or deny rehabilitation. However, the elderly may recover slowly because of a reduced ability to adapt to a changing environment, including Physical inactivity Lack of endurance Depression or dementia Decreased muscle strength, joint mobility, coordination, or agility Impaired balance Programs designed specifically for the elderly are preferable because the elderly often have different goals, require less intensive rehabilitation, and need different types of care than do younger patients. In age-segregated programs, elderly patients are less likely to compare their progress with that of younger patients and to become discouraged, and the social work aspects of post discharge care can be more readily integrated. Some programs are designed for specific clinical situations (e.g., recovery from hip fracture surgery); patients with similar conditions can work together toward common goals by encouraging each other and reinforcing the rehabilitation training. What is rehabilitation robotics? Rehabilitation robotics is a field of research dedicated to understanding and augmenting rehabilitation through the application of robotic devices. Rehabilitation robotics includes development of robotic devices tailored for assisting different sensorimotor functions (e.g. arm, hand, leg, ankle, development of different schemes of assisting therapeutic training, and assessment of sensorimotor performance (ability to move) of patient; here, robots are used mainly as therapy aids instead of assistive devices. Rehabilitation using robotics is generally well tolerated by patients, and has been found to be an effective adjunct to therapy in individuals suffering from motor impairments, especially due to stroke. Rehabilitation robotics can be considered a specific focus of biomedical engineering, and a part of human-robot interaction. In this field, clinicians, therapists, and engineers collaborate to help rehabilitate patients. What is Robotic Neurorehabilitation? Neurological disorders leave most with devastating disabilities such as the loss of movement in an arm or leg, and the accompanying loss of freedom of movement. Initially, these disabilities were considered incurable and therapy often focused on training people to use their “good side.” Fortunately, research shows that the concept of “task-specific learning”, in Neurorehabilitation based on neuroplasticity, suggests that activities of daily living may be trained and improved through continuous repetition in neurological patients. Robotic therapy meets this demand and enables intensive functional locomotion therapy with augmented feedback. “Robotics is the intelligent connection of perception to action.” Robotics has come a long way in the past few years, and while we’re not yet creating bionic men and women, we can at least claim to make people “better, stronger, and faster.” Robotics can compensate for the patient’s inadequate strength or motor control at speeds individually calibrated on the residual motor functions, while continuous feedback provides the patient with subjective perception of improvement. These characteristics make robotics a potential support in the rehabilitation domain for both trainers and patients, whose role remains central to the process. Robotic Neurorehabilitation is attractive because of its potential for easy deployment, its applicability across of a wide range of motor impairment, and its high measurement reliability. At Apollo Hospitals we provide robotic Neurorehabilitation, a scientific innovation, helping our patients on their way to recovery and a better quality of life. Apollo Hospitals is the only institution in the country to have the latest technology and equipment in robotic neurorehabilitation: While two-thirds of people who suffer from a neurological condition regain ambulatory function, the resulting gait pattern is typically asymmetrical, slow, and metabolically inefficient, mostly associated with difficulty in advancing and bearing weight through the more affected limb, leading to instability, along with increased risk of falls. Secondary impairments, including muscle disuse and reduced cardiorespiratory capacity, often contribute to further functional declines in gait. Hence, improved walking is one of the most frequently articulated goals of rehabilitation and interventions that effectively enhance locomotor function. They are essential in the rehabilitation of neurological patients following stroke, spinal cord injury, and traumatic brain injury, as well as in patients with multiple sclerosis, cerebral palsy or other neurological disorders. What is Lokomat? It consists of a driven robotic gait orthosis that guides the patient’s legs on a treadmill offering a wide range of training possibilities and has a pre-programmed gait pattern facilitating a bilaterally symmetrical gait pattern as the individual actively attempts to advance each limb while walking on the treadmill. The pre-programmed walking pattern corresponds with normal gait kinematics including: gait cycle timing (i.e. stance vs. swing phase), inter-limb and inter-joint coordination, appropriate limb loading, and afferent signalling. Lokomat can be used in both adult and paediatric population likewise. Lokomat entails the following benefits: Faster progress through longer and more intensive functional training sessions compared to manual treadmill training with adjustable level of difficulty and intensity according to the cognitive abilities and the specific needs of each patient Patient walking activity is easily supervised and assessed Gait pattern and guidance force are individually adjustable to the patient’s needs to optimize the functional training Improved patient motivation through visualized performance feedback offering various engaging virtual environments Assessment tools allow easy and reproducible measurements of the patient’s progress If needed – easily switch from automated to manual therapy An integrated biofeedback system monitors the patient’s gait and provides real-time visual performance feedback to motivate the patient for active participation. What is ERIGO? Accelerates early rehabilitation and minimizes complications of debilitated/bedridden and neurologically impaired patients Patients confined to prolonged bed rest endure reduced cardiac output, reduced oxygen uptake, muscle atrophy and skeletal demineralization, and the risk of injury when eventually elevated. The Erigo combines a continuously adjustable tilt table with a robotic stepping mechanism, enabling early, intensive therapy. Combines three established therapies in one – verticalization, leg movement, and cyclic loading and unloading of lower extremities. Supports and facilitates patient mobilization Provides intensive afferent sensory stimulation Activates the cardiovascular system Repetitive physical motion reduces spasticity in some patients May reduce risk of secondary complications caused by immobility May improve alertness in vegetative state patients What is ARMEO? The Armeo Therapy Concept improves the efficiency of therapy treatments because the exercises are self-initiated, self-directed, functional and intense. Even severely impaired patients can practice independently, without the constant presence of a therapist, allowing patients to explore their full potential for recovery. The Armeo’s purpose is to support functional therapy for patients who have lost the function of or have restricted function in their upper extremities caused by cerebral, neurogenic, spinal, muscular or bone-related disorders. The Augmented Feedback provided by the shared software platform: Encourages and motivates patients to achieve a higher number of repetitions, and this leads to better, faster results and improved long-term outcomes. Provides adjustable difficulty levels according to the patient’s needs and progress Provides adjustable workspace according to the patients’ changing abilities. The “Continuum of Rehabilitation”, from immediate post-injury to long-term recovery, requires a range of therapies to address the changing needs of the recovering patient. Hence, at Apollo Hospitals, we offer various rehabilitation and physiotherapy services tailored to every individual patient What is stroke rehabilitation? Rehabilitation after stroke aims to preserve or improve range of motion, muscle strength, bowel and bladder function, and functional and cognitive abilities. Specific programs are based on the patient’s social situation (eg, prospects of returning to home or work), ability to participate in a rehabilitation program supervised by nurses and therapists, learning ability, motivation, and coping skills. A stroke that impairs comprehension often makes rehabilitation very difficult. To prevent secondary disabilities (eg, contractures) and help prevent depression, rehabilitation should begin as soon as patients are medically stable. Preventive measures for pressure ulcers must be started even before patients are medically stable. Patients can safely begin sitting up once they are fully conscious and neurologic deficits are no longer progressing, usually ≤ 48 h after the stroke. Early in the rehabilitation period, when the affected extremities are flaccid, each joint is passively exercised through the normal range of motion (see Table 1: Rehabilitation: Normal Values for Range of Motion of Joints) 3 to 4 times/day. Regaining the ability to get out of bed and to transfer to a chair or wheelchair safely and independently is important for the patient’s psychologic and physical well-being. Ambulation problems, spasticity, visual field defects (eg, hemianopia), incoordination, and aphasia require specific therapy. Hemiplegia: For patients with hemiplegia, placing 1 or 2 pillows under the affected arm can prevent dislocation of the shoulder. If the arm is flaccid, a well-constructed sling can prevent the weight of the arm and hand from overstretching the deltoid muscle and subluxating the shoulder. A posterior foot splint applied with the ankle in a 90° position can prevent equinus deformity (talipes equinus) and foot drop. Resistive exercise for hemiplegic extremities may increase spasticity and thus is controversial. However, reeducation and coordination exercises of the affected extremities are added as soon as tolerated, often within 1 wk. Active and active-assistive range-of-motion exercises are started shortly afterward to maintain range of motion. Active exercise of the unaffected extremities must be encouraged, as long as it does not cause fatigue. Various activities of daily living (eg, moving in bed, turning, changing position, sitting up) should be practiced. For hemiplegic patients, the most important muscle for ambulation is the unaffected quadriceps. If weak, this muscle must be strengthened to assist the hemiplegic side. A gait abnormality in hemiplegic patients is caused by many factors (eg, muscle weakness, spasticity, distorted body image) and is thus difficult to correct. Also, attempts to correct gait often increase spasticity, may result in muscle fatigue, and may increase the already high risk of falls, which often result in a hip fracture; functional prognosis of hemiplegic patients with a hip fracture is very poor. Consequently, as long as hemiplegic patients can walk safely and comfortably, gait correction should not be tried. What are the Novel rehabilitation treatments for hemiplegia? Constraint-induced movement therapy: The functional limb is restrained during waking hours, except during specific activities, and patients are forced to do tasks mainly with the affected extremity. Robotic therapy: Robotic devices are used to provide intensive repetition of the therapeutic movement, guide an affected extremity in executing the movement, provide feedback (eg, on a computer screen) for patients, and measure patient progress. Partial weight–supported ambulation: A device (eg, treadmill) that bears part of a patient’s weight is used during ambulation. The amount of weight borne and speed of ambulation can be adjusted. This approach is often used with robotics, which allows patients to contribute to ambulation but provides force as needed for ambulation. Total body vibration: Patients stand on an exercise machine with a platform that vibrates by rapidly shifting weight from one foot to the other. The movement stimulates reflexive muscle contraction. Ambulation problems: Before ambulation exercises can be started, patients must be able to stand. Patients first learn to stand from the sitting position. The height of the seat may need to be adjusted. Patients must stand with the hips and knees fully extended, leaning slightly forward and toward the unaffected side. Using the parallel bars is the safest way to practice standing. The goal of ambulation exercises is to establish and maintain a safe gait, not to restore a normal gait. Most hemiplegic patients have a gait abnormality, which is caused by many factors (eg, muscle weakness, spasticity, distorted body image) and is thus difficult to correct. Also, attempts to correct gait often increase spasticity, may result in muscle fatigue, and may increase the already high risk of falls During ambulation exercises, patients place the feet > 15 cm (6 in) apart and grasp the parallel bars with the unaffected hand. Patients take a shorter step with the hemiplegic leg and a longer step with the unaffected leg. Patients who begin walking without the parallel bars may need physical assistance from and later close supervision by the therapist. Generally, patients use a cane or walker when first walking without the parallel bars. The diameter of the cane handle should be large enough to accommodate an arthritic hand.
   For stair-climbing, ascent starts with the better leg, and descent with the affected leg (good leads up; bad leads down). If possible, patients ascend and descend with the railing on the unaffected side, so that they can grasp the railing. Looking up the staircase may cause vertigo and should be avoided. During descent, patients should use a cane. The cane should be moved to the lower step shortly before descending with the bad leg.
   Patients must learn to prevent falls, which are the most common accident among stroke patients and which often result in hip fracture. Usually, patients explain the fall by saying that their knees gave way. For hemiplegic patients, who almost always fall on their hemiplegic side, leaning their affected side against a railing (when standing or climbing stairs) can help prevent falls. Doing strengthening exercises for weak muscles, particularly in the trunk and legs, can also help.
   For patients with symptomatic orthostatic hypotension, treatment includes support stockings, drugs, and tilt table training. Because hemiplegic patients are prone to vertigo, they should change body position slowly and take a moment after standing to establish equilibrium before walking. Comfortable, supportive shoes with rubber soles and with heels ≤ 2 cm (3/4 in) should be worn.
   Spasticity: In some stroke patients, spasticity develops. Spasticity may be painful and debilitating. Slightly spastic knee extensors can lock the knee during standing or cause hyperextension (genu recurvatum), which may require a knee brace with an extension stop. Resistance applied to spastic plantar flexors causes ankle clonus; a short leg brace without a spring mechanism minimizes this problem.
   Flexor spasticity develops in most hemiplegic hands and wrists. Unless patients with flexor spasticity do range-of-motion exercises several times a day, flexion contracture may develop rapidly, resulting in pain and difficulty maintaining personal hygiene. Patients and family members are taught to do these exercises, which are strongly encouraged. A hand or wrist splint may also be useful, particularly at night. One that is easy to apply and clean is best.
   Heat or cold therapy can temporarily decrease spasticity and allow the muscle to be stretched. Hemiplegic patients may be given benzodiazepines to minimize apprehension and anxiety, particularly during the initial stage of rehabilitation, but not to reduce spasticity. The effectiveness of long-term benzodiazepine therapy for reducing spasticity is questionable. Methocarbamol has limited value in relieving spasticity and causes sedation.
   Hemianopia: Patients with hemianopia (defective vision or blindness in half the visual field of one or both eyes) should be made aware of it and taught to move their heads toward the hemiplegic side when scanning. Family members can help by placing important objects and by approaching the patient on the patient’s unaffected side. Repositioning the bed so that patients can see a person entering the room through the doorway may be useful. While walking, patients with hemianopia tend to bump into the door frame or obstacles on the hemiplegic side; they may need special training to avoid this problem.
   When reading, patients who have difficulty looking to the left may benefit from drawing a red line on the left side of the newspaper column. When they reach the end of a line of text, they scan to the left of the column until they see the red line, cueing them to begin reading the next line. Using a rule to keep focused on each line of text may also help.
   Occupational therapy: After a stroke, fine coordination may be absent, causing patients to become frustrated. Occupational therapists may need to modify patients’ activities and recommend assistive devices
   Occupational therapists should also evaluate the home for safety and determine the extent of social support. They can help obtain any necessary devices and equipment (eg, bathtub bench, grab bars by the bathtub or toilet). Occupational therapists can also recommend modifications that enable patients to do activities of daily living (ADLs) as safely and independently as possible—for example, rearranging the furniture in living areas and removing clutter. Patients and caretakers are taught how to transfer between surfaces (eg, shower, toilet, bed, chair) and, if necessary, how to modify ways of doing ADLs. For example, patients may be taught to dress or shave using only one hand and to eliminate unnecessary motion while preparing food or shopping for groceries. Therapists may suggest using clothing and shoes with touch fasteners (eg, Velcro) or dinner plates with rims and rubber grips (to facilitate handling). Patients with impairments in cognition and perception are taught ways to compensate. For example, they can use drug organizers (eg, containers marked for each day of the week)
   How to pass MCQ with flying colours?
   Practice these samples and others
   With which anticonvulsant medication are drug levels the most useful?

a. carbamazepine
b. lamotrigine
c. phenytoin
d. valproate
e. vigabatrin

2. A photograph of a cyclist’s hand is shown. Left hand shows wasting of intrinsic muscles and clawing of ring and little fingers. He has normal adduction of the thumb but weakness of adduction and abduction of the remaining digits. No sensory changes. Most likely lesion is:

a. T1 nerve root lesion
b. brachial plexopathy
c. median nerve lesion
d. distal ulnar nerve lesion at the elbow
e. lesion of the deep palmar branch of the ulnar nerve.

3. Male unable to see out of left eye day 2 after CABG. Fundoscopy described as pale disc, fundal haemorrhage, disc swollen. Cause:

a. retinal artery embolism
b. retinal vein thrombosis
c. post cerebral artery occlusion
d. ischaemic optic neuropathy

4. Patient with wrist drop after a night of drinking. How do you exclude a radial nerve palsy?

a. loss of triceps jerk
b. inability to flex aim when prone
c. normal sensation
d. inability to extend elbow
e. adduction of the thumb

5. What problem in a patient is haloperidol most likely to work for

a. paranoid delusions
b. aggressive behavior
c. calling out
d. wandering
e. confusion

6. Recent widow, headache, neurology exam normal, elderly patient who has mild anaemia and anorexia, generally unwell. Next investigation:

a. CT head
b. ESR
c. Temporal artery biopsy
d. MRI

7. A man presents with sudden left neck pain, left Horner’s and right hemiparesis.
   The most likely cause is:

a. left internal carotid artery dissection
b. left vertebral artery dissection
c. middle cerebral artery CVA
d. posterior inferior cerebellar artery lesion.
e. demyelination

8. A male with seizures, MRI head seen, EEG? TLE,? rt handed funny movements. Cause of this:

a. hippocampal cyst
b. mesial temporal sclerosis
c. left cortical (?)
d. failure of neural migration

9. Woman with Parkinson’s disease, who initially responded to L-dopa. Then had rapid dementing illness over 6 months. What is the most likely finding on biopsy?

a. hippocampal aerobodies
b. loss of neurons in globus
c. C. lewy body disease

10. 35-year-old male found unconscious, normal fundi and pupils, extensor plantars,
    fever headache and neck stiffness. CT scan of brain was done. Increased intensity around
    circle of Willis and midbrain. Most likely diagnosis is?

a. meningitis
b. malignant meningitis
c. subarachnoid haemorrhage
d. obstructive hydrocephalus
e. brain haemorrhage.

11. In cisplatin neuropathy what is the most likely finding on nerve conduction studies?

a. Sensory loss
b. motor loss
c. demyelination
d. mixed motor sensory neuropathy

12. Diabetic male with peripheral vascular disease & renovascular disease now has dementia. What is the best test to elucidate the cause?

a. CT head
b. EEG
c. lumbar puncture

13. The most likely cause of a slowly progressive spastic paraparesis in an elderly lady is

a. Cervical spondylotic myelopathy
b. Motor neurone disease
c. Syringomyelia
d. parasagittal meningioma
e. Cerebrovascular disease
f. Multiple Sclerosis
g. Thoracic disc prolapse

14. A patient suffers from tonic-clonic and absence seizures. They are no longer able to tolerate valproate. Your next treatment:

a. Lamotrigine
b. Vigabatrin
c. Carbamazepine
d. Gabapentin
e. Ethosuximide

15. A 32 year old male found unconscious. The CT head is shown (very grainy picture with probably blood in sub-arachnoid space). Likely diagnosis:

a. Midbrain haemorrhage
b. Sub-arachnoid haemorrhage
c. Meningitis
d. Encephalitis

16. An adolescent with history of seizures, plucking at their clothes and not conscious during the event, and febrile seizures when a child. MRI shown with R mesial temporal sclerosis. Diagnosis:

a. Complex partial seizures with R mesial temporal sclerosis
b. Temporal lobe epilepsy with temporal lobe cyst
c. AVM of temporal lobe
d. Absence seizures
e. Juvenile myoclonic epilepsy

17. An EEG is shown with diffuse slowing, with slow waves occurring every second. A history is given of alcohol abuse, increasing confusion and twitching. LFT’s are normal. The most likely diagnosis is:

a. Hepatic encephalopathy
b. Creutzfeldt-Jakob disease
c. Epilepsy
d. Tumour
e. Subdural haematoma

18. A 55 year old female presents with increasing loss of memory and abnormal movements. The next best test for diagnosis:

a. EEG
b. CT head
c. Lumbar puncture
d. ? trinucleotide repeat number
e. ? other

19. The old question on a female presenting with seizures a few weeks postpartum. The most likely cause is:

a. Cerebral venous thrombosis
b. Meningitis
c. Amniotic fluid embolism

20. Photograph of hands is shown. History of cycling, told that no sensory changes. (Photo shows partial clawing L 4th and 5th fingers). Most likely lesion:

a. T1 nerve root lesion
b. Median nerve lesion
c. Lesion deep palmar branch ulnar nerve
d. Brachial plexopathy
e. Ulnar nerve lesion at elbow

21. Patient presents with sudden onset L Horner’s syndrome, R hemiparesis.? also given that had stiff neck. Most likely diagnosis:

a. L internal carotid dissection
b. Vertebral artery dissection
c. Middle cerebral artery territory CVA
d. Posterior inferior cerebellar artery lesion
e. Brain stem glioma

22. A 72 yrs. old male experiences a R parietal haemorrhage causing death. The most likely finding at post-mortem is:

a. A4 Amyloid vasculopathy
b. Gliosis
c. Berry aneurysm
d. AV malformation
e. Hypertensive changes

23. A patient in his mid-60’s initially presented with bradykinesia and tremor. There was an early response to L-dopa, but there has been rapid deterioration in mental state over the subsequent 18 months. The most likely pathological diagnosis is:

a. Lewy bodies in cortex arid substantia nigra
b. Lewy bodies only in basal ganglia
c. Neurofibrillary tangles
d. Binswanger’s deep white matter changes
e. Amyloid changes

24. Which of the following best describes an EEG of a patient with herpetic encephalitis:

a. Unilateral temporal spikes
b. Generalised slowing with bi-temporal spikes

25. With regard to the role of Vigabatrin (Sabril) in reducing the frequency of partial seizures in patients with epilepsy it:

a. was designed to inhibit GABA re-uptake at pre-synaptic neurons
b. acts at an allosteric site to potentiate the effects of GABA
c. was synthesised as an analogue of GABA
d. irreversibly inhibits GABA transaminase
e. activates GABA-B receptors to increase Chloride conductance.

25. Which of the following is not a feature of the dementia seen in Gerstman-Straussler-Scheinker disease?

a. localization of the responsible gene on chromosome 20
b. spongiosis, astrocytosis and neuronal loss neuropathologically
c. characterised by cerebellar ataxia and late dementia
d. it is due to a transmissable protein with 253 amino acids
e. it is associated with anti-neuronal anitbodies (anti-Hu)

26. Anterior ischaemic optic neuropathy:

a. Cause of blindness in temporal arteritis
b. Microemboli most common cause
c. Diabetes is greatest risk factor in < 40 years age group
d. Rarely (<5%) affects the other eye

27. Concerning Multiple Sclerosis:

a. Prevalence  with  latitude
b. Associated with anti-GAD antibodies in 25%
c. Transmissable in primate models
d. Associated with deposition of  amyloid protein
e. Oligoclonal bands are not found in peripheral blood

28. Young female, 20 weeks pregnant, presents with chorea. She has a past history of nasal perforation. ANA negative. Next investigation:

a. Cerebral angiograms
b. ANCA
c. dsDNA
d. ASOT
e. Antiphospholipid

29. 22-year-old male presented with severe left throbbing headache with right facial weakness. There was no impaired level of consciousness and he had not had previous similar headaches. Non-contrast CT head (not shown) was normal. (no further Hx re timing given) Next Ix:

a. No further Ix
b. LP
c. Repeat CT 1/52
d. Cerebral angiogram
e. Repeat CT with contrast

30. To Dx Huntingdon’s disease using DNA use:

a. RFLP
b. PCR
c. The size of the triplet repeat
d. Southern hybridisation
e. Identify gene specific mutation

1. Delusions are characteristically seen in:

A. Schizophrenia

B. Delirium

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C. Dementia

D. Depression

2. The presence of delusions, hallucinations, and disturbed cognitive function indicates:

A. Organic brain syndrome

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B. Paranoid psychosis

C. Dissociative hysteria

D. Obsessive-compulsive disorder Malingering-external motivation + Factitious disorder intentionally produced physical/psychological symptoms just to assume the sick role.

Hysteria/the conversion disorder psychological factors associated with initiation or exacerbation of neurological or medical disorder which are unexplained by any organic aetiology. Neurotransmitters are most implicated in the patho­physiology of mood disorders.

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Marked disturbance in personality, with impairment in social, interpersonal, and occupational functioning. Marked impairment in judgment and absence of understanding of illness (loss of insight) Presence of the characteristic symptoms like delusions and hallucinations.

3. The difference between neurosis and psychosis is:

A. Severity

B. Insight

C. Clinical features

D. Duration of onset

Features of psychosis include

Gross impairment in reality testing

4. Cognition is:

A. Perception

B. Thought

C. Behaviour

D. Feeling

Cognition – thinking

Conation – action

Affect – feeling

5. Delusion is a disorder of:

A. Perception

B. Thinking

C. Intelligence

D. Judgment

Hallucination, illusion – are disorders of perception

6. Hallucination is a disorder of:

A. Perception

B. Thinking

C. Intelligence

D. Memory

7. Primary delusions are characterised by disorders of:

A. Thought

B. Obsession

C. Hallucination

D. Loosening of association

8. All the following are true about hallucinations, except:

A. It represents a state of inner subjective space

B. It is dependent of the observer

C. It is as vivid as sensory perception

D. It occurs in the absence of perceptional stimulus

9. The main excitatory neurotransmitter in the CNS is:

(AI-2003, Pg-W9-SOP)

A. Cysteate

B. Acetylcholine

C. Aspartate

D. Glutamate

Inhibitory neurotransmitter is GABA

10. 25-years house wife come to the psychiatry outpatients department complaining that her nose was longer than usual. She felt that her husband did not like her because of the deformity and had developed relationship with the neighbouring girl. Further she complained that people made fun of her. It was not possible to convince her that there was no deformity. Her symptoms include:

A. Delusion

B. Depersonalization

C. Depression

D. Hallucination

Delusion is a disorder of thinking, which is a firm, fixed, unshakable, and held with strong conviction, irrespective of sociocultural and educational background. The content of it being bizarre but not always.

11. Neologism is:

A. Minting of words

B. Totally

C. Has some meaning

D. Modification of word

8B 9D 10A 11B

Neologisms:

Newly formed words or phrases whose derivation cannot be understood parathions – word approximations where normal words are used in an unconventional or distorted way, but the derivation can be understood.

12. Delusion is a false belief which is:

A. Reasonable

B. Comprehensible

C. Both of the above

D. None of the above

Delusion is a false unshakable belief which is not amenable to reasoning and us not in keeping with the patient’s sociocultural and educational background.

13. Auditory hallucinations are seen in all of the following except:

A. Hysteria

B. Mania

C. Amphetamine toxicity

D. Schizophrenia

14. Tactile hallucinations are associated with:

A. Schizophrenia

B. Cocaine psychosis

C. Temporal lobe epilepsy

D. All of the above

15. Pseudo-hallucinations are not said symptoms of:

A. Hysteria

B. Schizophrenia

C. Pseudo-neurotic schizophrenia

D. Malingering

16. Delusion is seen in all, except:

A. Mania

B. Depression

C. Anxiety neurosis

D. Schizophrenia

17. Delusion is a disorder of:

A. Perception

B. Thought

C. Personality

D. Affect

18. Delusion is:

A. A feeling of loss of sensation

B. Not able to get proper answer

C. A false belief

D. An uncomfortable sensation

Delusions are false unshakable beliefs which are not in keeping with patient’s sociocultural and educational background.

19. Thought disorder is seen in:

A. Obsessive-compulsive disorder

B. Anxiety neurosis

C. Schizophrenia

D. Psychopathic personality

Autistic thinking, loosening of association are forms of though disorder seen in schizophrenia.

20. A false belief unexplained by reality, which is shared by a number of people is:

A. Delusion

B. Obsession

C. Superstition

D. Illusion

21. One of the following is a disorder of thought:

A. Illusion

B. Hallucination

C. Delirium

D. Delusion

Illusion and hallucination are disorders of perception Delusion is a disorder of content of thought Delirium is an organic condition where is there is an acute confessional state.

22. Deja vu Phenomenon is:

A. Feeling palpable music

B. Feeling nauseating smell

C. Fear of impending doom

D. Familiar to unfamiliar surroundings

Illusion of familiarity in unfamiliar situations is Deja vu.

Deja Pense – related to thoughts

Deja entendu – related to auditory perception.

23. Depersonalisation is a disorder of:

A. Mood

B. Thought

C. Perceptions

D. Cosmetic

Other disorders of perceptions are Hallucinations and Illusions.

24. The most common cause of mood congruent delusion is:

A. Obsessive-compulsive neurosis

B. Schizophrenia

C. Dementia

D. Mania

Mood-congruence refers to occurrence of psychiatry symptoms in keeping with mood state.

25. Visual hallucinations are seen in:

A. Alcoholism

B. Mania

C. Depression

D. Phobia

Seen in Delirium tremens.

26. Tactile hallucination is a feature of:

A. Anxiety neurosis

B. Cocaine poisoning

C. Morphine withdrawal

D. Schizophrenia

Delirium and anxiety neurosis can also occur with cocaine.

27. “Phantom limb” in an example of:

A. Delusion

B. Illusion

C. Phi phenomenon

D. Hallucination

E. Fantasy

28. ‘Mirage’ is an example of:

A. Illusion

B. Delusion

C. Hallucination

D. Extrasensory perception

E. Fantasy

29. Delusion is not seen in:

A. Anxiety

B. Mania

C. Depression

D. Schizophrenia

30. Cognition means:

A. Behaviour

B. Thought

C. Perception

D. Feeling

There are three psychiatric domains.

Cognition (thought)

Affect (Feeling)

Conation (action)

Equilibrium normally exists between the domains.

31. Delusions of influence are characteristic of:

A. Obsessive state

B. Schizophrenia

C. Depression

D. Dramatization

Delusion of control/influence is seen commonly in schizophrenia.

32. Delusions and hallucinations are known as:

A. Psychotic symptoms

B. Neurotic symptoms

C. Behavioral symptoms

D. Psychosomatic symptoms Term psychosis is defined as Gross impairment of reality testing Loss of weight

Pressure of characteristic symptoms like delusions and hallucination.

33. The commonest disorder of perception is:

A. Delusion

B. Hallucination

C. Passivity

D. Compulsion

Hallucination and passivity are disorders of perception

Compulsion delusions are disorders of thought.

34. Therapeutic community concept was propagated by:

A. Freud

B. Adler

C. Maxwell Jones

D. Watson. J

35. Psychoanalysis was found by:

A. Freud

B. Jung

C. Adler

D. Eysenck

36. A false sensory perception in the absence of external stimulus is:

A. Hallucination

B. Illusion

C. Delusion

D. Depersonalization

37. Loss of insight occurs in:

A. Anxiety neurosis

B. Schizophrenia

C. Psychosomatic disorder

D. MDP

Loss of weight is a feature of psychosis. It is seen both in schizophrenia and manic phase of MDP but prominent in schizophrenia.

38. Grimacing is a feature of:

A. Catatonic schizophrenia

B. Hebephrenic schizophrenia

C. Paranoid schizophrenia

D. Juvenile schizophrenia

39. Flashbacks are seen with:

A. LSD

B. Amphetamine

C. Cocaine

D. Opiates

Flashback is a spontaneous recurrence of Drug use experience in drug free state.

40. Loss of insight occurs in:

A. Hysteria

B. Schizophrenia

C. Obsessive-compulsive neurosis

D. Somatoform disorders

Loss of insight occurs in psychosis except schizophrenia all the other three disorders belongs to neuroses.

41. Confabulation is a defect of:

A. Memory

B. Intelligence

C. Affection

D. Concentration

42. ‘La belle indifference’ is seen in:

A. Dissociative disorder

B. Phobia

C. Obsessive-compulsive disorder

D. Depersonalization disorder

Lack of concern towards symptoms in patients with dissociative disorder.

43. Ganser’s syndrome is associated with:

A. Repeated lying

B. Approximate answers

C. Confabulation

D. Malingering

Ganser’s syndrome is a dissociative disorder. It is also called hysterical pseudo dementia.

44. Nihilistic delusion is seen in:

A. Depression

B. Schizophrenia

C. Mania

D. OCN

Nihilistic delusion is mood – congruent type of delusion seen in depression.

45. Neologism is characteristic of:

A. Mania

B. Schizophrenia

C. Depression

D. OCN

46. An 18-year-old hears voices discussing him in the third person. He has

A. TLE

B. Depression

C. Mania

D. Schizophrenia

47. To become unfamiliar of familiar situation is called:

A. Deja vu

B. Jamais vu

C. Deja pence

D. Deja Entendu Explanation: —

Deja vu—illusion of visual recognition in which a new situation is incorrectly regarded as a repetition of a previous memory.

Jamais vu—False feeling of unfamiliarity with a real situation that a person has experienced.

Deja pence—Illusion that a new thought is recognised as a thought previously felt or expressed.

Deja Entendu—Illusion of auditory recognition.

48. The term “free association” was coined by:

A. Adler

B. Erickson

C. Freud

D. Jung

Other terms coined by Freud-psychoanalysis, Oedipus complex, Electra complex, penis envy, primal scene, pleasure principle.

49. Who experimented the instrumental learning?

A. Gustav

B. Sigmund Freud

C. Skinners

D. Karl Jug

Also called as operant conditioning.

50. Psychosis is characterized by all, except:

A. Contact with reality is maintained

B. Positive symptoms are usually present

C. Impaired judgment

D. Insight is lost.

The first symptom for psychosis is a gross impairment in reality testing.

51. Which of the following is most specific of psychosis?

A. Neologism

B. Incoherence

C. Perseverance

D. Pressure of speech

52. A 23-year-old man has a fight with a boy in his neighbourhood. The next day he feels two policemen are follow­ing him to arrest him. He is agitated and pales up and down him room. He feels that his neighbours are control­ling his mind by sending waves from an electric device. He is suffering from:

A. Delusions of persecution

B. Though insertion

C. Passivity

D. Depression

53. Early in psychiatric interview, it is important for the phy­sician to:

A. Let patients talk about what is bothering them

B. Obtain information about the patient’s mood

C. Record the family history

D. Inform the patient of the fee

E. Obtain details of any past psychiatric illness

Answer
1.A 2. A 3.B 4. B 5.B 6. A 7.A 8.B 9.D 10.A 11.B 12.B 13.A 14.D 15.A 16.C 17.B 18.C 19.C 20.C 21.D 22.D 23C 24.D 25.A 26.B 27.D 28.A 29.A 30.B 31.B 32.A 33.B 34.C 35.A 36.A 37.B 38.A 39.A 40.B 41.A 42.A 43.B 44.A 45.B 46.D 47.B 48.C 49.C 50.A 51.A 52.A 53.C
Why do psychiatry and neurology need a close partnership or a merger?
As you can see from the above discussions advances in neuroscience in recent years have blurred the boundaries between psychiatry and neurology. They now have more in common than what divides them and this signals a return to their origins. Many have called for a merger of the two disciplines, which would offer a more holistic approach, whereas others vigorously reject such a move. Limiting neurology to the study of the nervous system and psychiatry to the social brain or affect and its disorders is no longer sustainable. The ongoing separation of the disciplines has had an impact on diagnosis and treatment, on professional isolation and on funding psychiatric research.
The relationship between psychiatry and neurology remains a controversial topic, with strong voices opposing a merger, whereas others point out that the future lies with the neurologist/psychiatrist or neuro-psychiatrist. Either way, it highlights the growing disparity in how the disciplines are currently defined and the many areas of overlap.
Why bring neurology and psychiatry together?
One of the most compelling arguments for bringing the two disciplines together is that their boundaries are becoming increasingly blurred. Ramachandran observed this fact and declared it was only a matter of time before psychiatry becomes just another branch of neurology.18 I would dispute that aspect of the argument; there is no question of one discipline ‘swallowing’ up the other. Instead it would be a merger of two equal partners: neurology and psychiatry. If it were to occur, both disciplines would enrich each other enormously.
The separation of the two disciplines has had a somewhat negative impact on diagnosis and treatment. Kanner points out that, in neurology, the separation from psychiatry has led to comorbid disorders being underrecognized and undertreated. In effect, the separation of neurology from psychiatry has led to a separation of the brain from the mind – the physical from the mental – which has been unhelpful for both disciplines. If a merger did occur, the neuropsychiatrist could provide a more holistic approach to the diagnosis and treatment of a patient. In fact, all neurologists and psychiatrists practise basic counselling and brief therapy to varying degrees. It is noteworthy that there are similar brain changes after the treatment of obsessive-compulsive disorder with either medication or behaviour therapy. This increases the link somewhat between neurology and psychiatry.
Aarli points out that psychiatry and neurology have a common route and both share a common basis in neuroscience. He also notes that there is much more that unites neurology and psychiatry than divides them. Neurobiological conditions like epilepsy, autism, dementia, delirium, Tourette syndrome, intellectual disability, dyspraxia, speech and language problems are all overlapping. Between neurology and psychiatry Henningsen favours overcoming ‘dualistic’ and often ‘irrational splits’ in the classification and in the practice of medicine. He agrees with the idea of subsuming mental disorders under ‘disorders of the brain’ because this gives greater clarity and simplicity. Kandel finds it useful to consider that psychiatry and psychoanalysis work at the level of individual nerve cells and their synaptic connections. Neurology and psychiatry are simply two ‘sides of the same coin’. Certainly, in the area of neural plasticity, neurology and psychiatry overlap.
The overlap is also evident in medical journals relevant to the disciplines. In a study of papers published in Neurology and the American Journal of Psychiatry, Price found that less than 5% of papers in the American Journal of Psychiatry were on meningitis, epilepsy and headache and that less than 5% of papers in Neurology focused on schizophrenia, panic and mania. The proportions for attention-deficit hyperactivity disorder were 23% in Neurology and 77% in the American Journal of Psychiatry; for autism 30% in Neurology and 70% in the American Journal of Psychiatry; for ‘mental retardation’ 70% in Neurology and 30% in the American Journal of Psychiatry. As one can see, there is considerable overlap. Similarly, Raja showed that neurological disease affected 13.05% of acute and 68.9% of chronic psychiatric patients.23
Why has psychiatry been in isolation from medicine?
There is a great deal of similarity in the training of neurologists and psychiatrists from medical school onwards. At the present time, all psychiatrists are required to spend a minimum of 6 months to a year working in neurology and vice versa. Joint training in neurology and psychiatry would be helpful. These individuals would be dual trained and would require both Royal Colleges to come together to produce this dual-trained neurologist/psychiatrist, as happens in the USA and Germany. Indeed, it may be easier to recruit this neurologist/psychiatrist in the future. In a study of trainers and trainees in psychiatry/neurology, Schon et al29 found that psychiatrists were even keener on links between neurology and psychiatry training than neurologists, with psychiatric specialist registrars significantly more in favour.
Notwithstanding the difficulties involved, the effort of creating such a unified field is well worth making. There are several reasons why we should persevere. First, as Professor Allan Reiss reminds us, “the brain is the organ of the mind.” We can endorse this view without taking sides in the ancient and arcane debate regarding the nature or reality of mind, the validity of physicalism, and so on. All we need to agree on is that the brain is the organ of the mind in roughly the same sense that the heart is the organ of circulatory function-the heart, as opposed to the pancreas or the liver. The brain is the organ of the mind in so far as the mind depends on the functions of the brain. Put another way, we are stipulating that the basic functions of the mind (sensory perception, calculation, memory, and so on) require nothing over and above a healthy, adequately perfused brain. And, as Professor Reiss comments, this may be the most important rationale for merging the multiple medical and behavioural disciplines.
Indeed, maintaining two disciplines-one devoted to the brain and the other to the mind-is a bit like having two medical specialties: one devoted to the study of the heart as an organ, and another devoted to circulatory function. Would we not find it odd to see two signs in the hallway of a hospital, one reading, “Department of Cardiology” and the other, “Department of Blood Circulation”? In my view, we should find it no less peculiar, even perverse, that we have balkanized our study of the human person into the fields of neurology and psychiatry. This almost Cartesian split of brain and psyche impedes our ability to understand and care for our patients.
Indeed, perhaps the strongest argument for unifying psychiatry and neurology is that as physicians, we are ultimately interested not in curing diseases of the brain or diseases of the mind but rather-as the physician Maimonides reminded us eight centuries ago-in curing the diseased person. To achieve this goal, we must reunite neurology and psychiatry as a single, comprehensive, and humanistic discipline.
If a Martian with human-like anatomy and physiology visited Earth, how would humans explain why pulmonologists treat lungs, cardiologists treat hearts, and nephrologists treat kidneys, but neurologists treat some brain conditions and psychiatrists treat other brain conditions?
The point is plain: “It is difficult to rationally explain to someone with no prior frame of reference why we have the split between neurological and psychiatric illness.”
Neurology typically focuses on conditions with physical markers, such as neuropathological lesions, and psychiatry focuses on abnormal brain function determined through observable symptoms, Dr Reilly notes. However, he points out that epilepsy fell under the purview of psychiatrists until its neuropathology became clear and neurologists began treating it. Magnetic resonance imaging (MRI) and other tests are similarly starting to reveal potential biomarkers for schizophrenia and autism.
Trying to delineate the disciplines with different symptomology falls flat, too. Recently identified N-methyl-D-aspartate receptor encephalitis is “clinically indistinguishable from the first episode of schizophrenia” despite having a clear neurologic pathophysiology, Dr Reilly writes. Some symptoms overlap, such as hallucinations in psychosis and Parkinson disease, depression in mood disorders and multiple sclerosis, or a variety of symptoms in different types of dementia.
“Current classification is based on convention, tradition, and quirks of history,” Dr Reilly writes. “Nature does not respect our arbitrary categorizations and neither do our patients.”
Dr Reilly is not alone in his thoughts. Since his editorial was published in 2015, several more articles have similarly questioned the division and proposed either merging the two specialties or at least designing a curriculum for a third path that brings them together in neuropsychiatry or behavioural neurology. Although such joint programs exist throughout the world, including in the United States, they are far from the standard.
Historically, a single discipline, neuropsychiatry, dominated study and care of brain disease, particularly in the 19th century. However, neurology and psychiatry began to diverge gradually around the 1930s or, especially after the 1960s, depending on who you talk to and what country you’re talking about.
Why is there a combined American board of neurology and psychiatry examination?
The mission of the New York University Combined Residency in Psychiatry and Neurology is to provide a thorough, fully integrated training experience in psychiatry and neurology and, in so doing, to produce skilled clinicians capable of evaluating psychiatric and neurologic problems in the light of their full clinical context. Graduates of our program will be prepared to be academic leaders in the rapidly changing fields of psychiatry, neurology, and neuropsychiatry, as well as in the full range of subspecialties available from either field. Past graduates have gone on to specialize in epilepsy, multiple sclerosis, autonomic disorders, critical care palliative medicine, traumatic brain injury, and consultation-liaison psychiatry, among others.
NYU is home to a robust clinical neuropsychiatry community that spans both departments and that continues to grow, providing ample opportunity for resident research and mentorship. Our residents rotate at a wide range of high-calibre training sites, including historic Bellevue Hospital and the world-renowned NYU Comprehensive Epilepsy Center. The NYU combined residency provides a unique training opportunity for intellectually curious trainees interested in exploring and exploding the traditional boundaries of psychiatry and neurology in research and clinical practice.
The combined residency in psychiatry and neurology includes six years of coordinated training in the two disciplines and meets the Special Requirements for board certification in Psychiatry and Neurology as designated by the American Board of Psychiatry and Neurology.
At the conclusion of six years of training in psychiatry and neurology, including an initial preliminary medicine year, trainees will be experienced in the prevention, detection, and treatment of acute and chronic psychiatric and neurological illnesses as they present in both inpatient and ambulatory settings, as well as in the socioeconomics of illness, the ethical care of patients, and the team approach to provision of patient care.
The six-year program is structured to encourage residents to begin integrating their psychiatry and neurology knowledge from an early stage. A weekly neuropsychiatry consultation clinic, supervised by Program Director Dr. Nadkarni and attended by all combined residents, begins in the PGY II year and provides regular exposure to clinical neuropsychiatric concepts. The PGY VI year is a capstone year, with at least eight months of elective time available for the senior combined resident to pursue further subspecialty exposure or a research project of her or his choice.
Psychiatry and neurology, long split from each other but sharing a common origin in the 19th-century neuropsychiatry practiced by Freud, Charcot, and Kraepelin, are becoming increasingly reunited with the advent of modern neuroscience. As new discoveries are made and disorders of mind and behaviour are increasingly put in their neurobiological context, dually trained clinicians capable of providing complex and multifaceted neuropsychiatric care and driving neuroscience research will be essential.
What is the conclusion?
There is a great deal of similarity in the training of neurologists and psychiatrists from medical school onwards. At the present time, all psychiatrists are required to spend a minimum of 6 months to a year working in neurology and vice versa. I did 6 months residency in neurology. Joint training in neurology and psychiatry would be helpful. These individuals would be dual trained and would require both Royal Colleges to come together to produce this dual-trained neurologist/psychiatrist, as happens in the USA and Germany. Indeed, it may be easier to recruit this neurologist/psychiatrist in the future. In a study of trainers and trainees in psychiatry/neurology, Schon et al29 found that psychiatrists were even keener on links between neurology and psychiatry training than neurologists, with psychiatric specialist registrars significantly more in favour.
Psychiatrists and neurologist need to be well versed in each other’s fields and usually are. The purpose of the book is to provide the trainee psychiatrists a glimpse to neurology and see for themselves how much they are similar and inseparable. Going through all the above neurological signs one can easily assess that psychiatric illnesses are often mentioned in neurology and vice versa in psychiatric texts.
In conclusion, psychiatrists should return home to neurology and medicine and leave non-medical interventions to non-medical practitioners, for example in relation to specialist or long-term psychotherapy. Neurologists and psychiatrists need to merge into neuropsychiatry or some acceptable title. The merger would admittedly not be easy, but it would be beneficial to both fields in the long term and to patients at a clinical level.