Tag Archives: Huntington
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 […]
fragile x associated tremors/ataxia syndrome
_ Fragile X–associated tremor/ataxia syndrome (FXTAS) is a genetic disorder affecting mostly men and causing tremor, ataxia, and dementia. 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 […]
chorea
_ _ _ Chorea is nonrhythmic, jerky, rapid, nonsuppressible involuntary movements, mostly of distal muscles or the face; movements may merge imperceptibly into purposeful or semipurposeful 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, […]
cerebellar dysfunctions
_ _ Voluntary movement requires interaction of the corticospinal (pyramidal) tracts, basal ganglia, and cerebellum (the center for motor coordination). The pyramidal tracts pass through the medullary pyramids to connect the cerebral cortex to lower motor centers of the brain stem and spinal cord. The basal ganglia (caudate nucleus, putamen, globus pallidus, subthalamic nucleus, and […]
deemagclinic
deemagclinic 