| 释义 |
Portuguese-Azorean disease Ma·cha·do-Jo·seph disease (mă-sha'dō jō'seph), [MIM*109150] 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.] |