Machado-Joseph disease
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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.]
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Machado-Joseph disease
Neurology An AD trinucleotide repeat disease characterized by progressive spinocerebellar ataxia, choreoathetosis, dystonia, seizures, myoclonus, dementia. See Trinucleotide repeat disease.McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.
Ma·cha·do-Jo·seph dis·ease
(mă-sha'dū jō'sef di-zēz')A rare form of hereditary ataxia, characterized by onset in early adult life of progressive spinocerebellar and extrapyramidal disease with external ophthalmoplegia, rigidity, dystonia, 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.
[Surnames of two families studied in major descriptions of the disease.]
Medical Dictionary for the Health Professions and Nursing © Farlex 2012
Joseph,
surname of one of the families studied in major descriptions of the disease.Machado-Joseph disease - see under Machado
Machado,
surname of one of the two families studied in major descriptions of the disease.Machado-Joseph disease - a rare form of hereditary ataxia, characterized by the onset in early adult life of progressive disease, found primarily in people of Azorean ancestry.
Medical Eponyms © Farlex 2012
Ma·cha·do-Jo·seph dis·ease
(mă-shah'dū-jō'sef di-zēz') [MIM*109150]Rare form of hereditary ataxia, found predominantly in people of Azorean ancestry.
Medical Dictionary for the Dental Professions © Farlex 2012