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Portuguese-azorean disease

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Portuguese-Azorean disease --> 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.