About The Medical Condition Nervous System Azorean Disease
Find the definition of the medical term Nervous System Azorean Disease. Nervous System Azorean Disease defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Nervous System Azorean Disease
| Nervous System Azorean Disease Medical Condition |
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What's The Definition Of The Medical Condition Nervous System Azorean Disease?
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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