Machado-Joseph disease[mă-sha′dō jō′seph]

Type:Term

Definitions
1. a rare form of hereditary ataxia, characterized by onset in early adult life of progressive, spinocerebellar and extrapyramidal disease with external ophthalmoplegia, rigidity dystonia symptoms, and, often, peripheral amyotrophy; found predominantly in people of Azorean ancestry; autosomal dominant inheritance, caused by a trinucleotide repeat expansion mutation in the Machado-Joseph gene (MJD1) on 14q.

Synonyms
Azorean disease , Portuguese-Azorean disease

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