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.]

Farlex Partner Medical Dictionary © Farlex 2012

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.]

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

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MJD subjects showed higher mean values than FAP and HD subjects, regarding phobic anxiety [[M.sub.HD] (n = 29) = 1.15; [M.sub.MJD] (n = 4) = 7.50; [M.sub.FAP] (n = 170) = 1.70], psychoticism [[M.sub.HD] (n = 29) = 2.35; [M.sub.MJD](n = 4) = 6.75; [M.sub.FAP](n = 170) = 2.34] and PSDI [[M.sub.HD] (n = 29) = 1.47; [M.sub.MJD] (n = 4) = 2.27; [M.sub.FAP] (n = 170) = 1.44].

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Therapy speech impact in quality of life in patients with Machado-Joseph disease/Qualidade de vida em pacientes com doenca de Machado-Joseph soba companhamento fonoaudiologico para disfagia

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A phased light curve was constructed (fig 2), with [phi] ~0 located at the ascending node [Time of ascending node, [T.sub.asc] (MJD) = 55425.320466] and folded with the pulsar's orbital frequency [[f.sub.b] ([s.sup.-1]) = 1.88062856(2) x [10.sup.-5]] corrected with the 1st derivative [[f.sub.b] ([s.sup.-2]) = 1.24(4) x [10.sup.-18]].

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