Machado-joseph

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Machado-joseph

a rare form of hereditary ataxia, characterised 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.

Synonym: Azorean disease, portuguese-azorean disease.

Origin: Surnames of two families studied in major descriptions of the disease.