Machado-Joseph 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.]

Machado-Joseph disease

[mächä′dō jō′səf]

Etymology: Machado and Joseph, afflicted families

a progressive degenerative disease of the central nervous system occurring in families of Portuguese-Azorean descent, having a variety of forms and inherited as an autosomal-dominant trait. There are four major types: Type I, with pyramidal and extrapyramidal deficits; Type II, with cerebellar, pyramidal, and extrapyramidal deficits; Type III, with cerebellar deficits and distal sensorimotor neuropathy; and Type IV, with parkinsonism and distal sensory neuropathy. Also called Azorean disease, Joseph disease, Portuguese-Azorean disease.

Machado-Joseph disease

Neurology An AD trinucleotide repeat disease characterized by progressive spinocerebellar ataxia, choreoathetosis, dystonia, seizures, myoclonus, dementia. See Trinucleotide repeat disease.

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.]

Joseph,

surname of one of the families studied in major descriptions of the disease.

Machado-Joseph disease - see under Machado

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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.

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.