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.
[Surnames of two families studied in major descriptions of the 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

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.
References in periodicals archive ?
Ten years of a programme for presymptomatic testing (PST) and prenatal diagnosis (PND) in late-onset neurological diseases in Portugal: Machado-Joseph disease (MJD), Huntington disease (HD) and familial amyloid neuropathy type I - ATTRV30M (FAP-I).
Executive and emotional dysfunction in Machado-Joseph disease. Journal of Movement Disorders, 17, 1004-1010.
Decreased antioxidant enzyme activity and increased mitochondrial DNA damage in cellular models of Machado-Joseph disease. J Neurosci Res 2009; 87: 1884-1891, doi: 10.1002/jnr.22011.
Combined therapy with m-TOR-dependent and -independent autophagy inducers causes neurotoxicity in a mouse model of Machado-Joseph disease. Neuroscience 2016; 313: 162-173, doi: 10.1016/j.neuroscience.2015.11.030.
Lithium chloride therapy fails to improve motor function in a transgenic mouse model of Machado-Joseph disease. Cerebellum 2014; 13: 713-727, doi: 10.1007/s12311-014-0589-9.
Chemical chaperones reduce aggregate formation and cell death caused by the truncated Machado-Joseph disease gene product with an expanded polyglutamine stretch.
Magnetic resonance imaging demonstrates differential atrophy of pontine base and tegmentum in Machado-Joseph disease. J Neurol Sci 2003;215:45-50.
Survival estimates for patients with Machado-Joseph disease (SCA3).