Skip to Content
Medical Term:

Machado-Joseph disease

Pronunciation: ma-sha'do jo'seph


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.]

© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.