About The Medical Condition Striatonigral Degeneration, Autosomal Dominant

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Find the definition of the medical term Striatonigral Degeneration, Autosomal Dominant. Striatonigral Degeneration, Autosomal Dominant defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.

Striatonigral Degeneration, Autosomal Dominant

Striatonigral Degeneration, Autosomal Dominant Medical Condition Defined & Explained
Striatonigral Degeneration, Autosomal Dominant Medical Condition

What's The Definition Of The Medical Condition Striatonigral Degeneration, Autosomal Dominant?

A dominantly-inherited ataxia first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, dysarthria, postural instability, nystagmus, eyelid retraction, and facial fasciculations. Dystonia is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features muscle atrophy and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96)

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