MACHADO JOSEPH DISEASE
\mat͡ʃˈɑːdə͡ʊ d͡ʒˈə͡ʊsəf dɪzˈiːz], \matʃˈɑːdəʊ dʒˈəʊsəf dɪzˈiːz], \m_a_tʃ_ˈɑː_d_əʊ dʒ_ˈəʊ_s_ə_f d_ɪ_z_ˈiː_z]\
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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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