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Machado-Joseph disease

Pronunciation: ma-sha'do jo'seph

Definition: 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.

Synonym(s): Azorean disease, Portuguese-Azorean disease

[Surnames of two families studied in major descriptions of the disease.]

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.