Hereditary Progressive Dystonia
نویسندگان
چکیده
منابع مشابه
Hereditary non-progressive torsion dystonia with intellectual disturbance.
Three siblings of a consanguineous parents with involuntary movements are reported. The mother had only a very slight neck tremor, without any other neurological abnormality, and the father had died. The 38-year-old son (Case 1) complained of involuntary movements at the age of 6. His involuntary movements were observed in the tongue, perioral region and upper and lower extremities: jerky movem...
متن کاملDystonia in progressive supranuclear palsy.
OBJECTIVES To document the nature, distribution, and frequency of dystonic symptoms in progressive supranuclear palsy (PSP). METHODS Charts and videotapes of all clinically diagnosed patients with PSP seen between 1983 and 1993 were reviewed and the occurrence, nature, and distribution of all dystonic symptoms were recorded. RESULTS Of 83 identified cases 38 had some dystonic features. Twen...
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A family with hereditary non-Huntington's chorea is presented. Transmission was autosomal dominant with variable penetrance. Chorea commenced in childhood and affected predominantly the head, face and upper limbs. Dysarthria appeared later, followed in two family members by elements of an axial dystonia. There was no intellectual impairment. Unlike previously described families, symptoms progre...
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In a series of three papers, Stargardt ( 1909,I93, I9I6) described with precision and thoroughness a form of hereditary macular degeneration which has become known as Stargardt's disease. The purposes of the present paper are to review Stargardt's original observations, to argue that Stargardt's disease and fundus flavimaculatus with atrophic macular degeneration are identical, and to present a...
متن کاملHereditary dystonia and parkinsonism: two sides of the same coin?
and thalamic resting-state functional connectivity is altered in childhood absence epilepsy. system hyperconnectivity in juvenile myoclonic epilepsy: a cognitive functional magnetic resonance imaging study. Duncan JS, et al. Motor co-activation in siblings of juvenile myoclonic epilepsy patients: an imaging endophenotype? Hereditary dystonia and parkinsonism: two sides of the same coin? This sc...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 1987
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-1-4-7