Definition: 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 MUSCULAR 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)
Other names Striatonigral Degeneration, Autosomal Dominant; Spinocerebellar Ataxia Type 3; Joseph Disease; Azorean Disease; Type IV Machado Joseph Disease; Type III Machado Joseph Disease; Type II Machado Joseph Disease; Type I Machado Joseph Disease; Spinocerebellar Ataxia 3; Nigrospinodentatal Degenerations; Neurologic Disease, Azorean; Machado Joseph Disease Type IV; Machado Joseph Disease Type III; Machado Joseph Disease Type II; Machado Joseph Disease Type I; Machado Joseph Disease; Machado Joseph Azorean Disease; Disease, Machado-Joseph Azorean; Disease, Machado-Joseph; Disease, Joseph Azorean
