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.]

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.

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References in periodicals archive ?

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].

Pre-symptomatic testing for neurodegenerative disorders: Middle- to long-term psychopathological impact

Rolim and colleagues (2006) concluded that the decision to undergo the PST for MJD generates emotional distress and involves major personal issues, with the potential for short- to long-term psychological consequences for the individual and the family.

MOTIVATION TO PERFORM PRESYMPTOMATIC TESTING IN PORTUGUESE SUBJECTS AT-RISK FOR LATE-ONSET GENETIC DISEASES

Tap coefficients of the MJD are adjusted using proposed adaptive filtering algorithms in [48].

Adjustable multiple relay selection based on steady-state mean square joint error for cooperative communication

This study is based on a series of four cases with diagnosis of MJD. This research was approved by the ethics committee in research of Hospital de Clinicas de Porto Alegre, number 12-0168.

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

"We are thrilled to welcome the new hires to the team," says Jeremy Duimstra, CEO of MJD. "As we continue to grow our business, these team members will ensure that we keep offering our clients the unparalleled level of digital innovation that they have come to expect from us."

MJD Kicks Off 2016 with Six New Hires

(24.) Machado CL, Fernandes AMS, Osis MJD, Makuch MY.

Legal abortion services in Brazil--a national study/Servicos de aborto legal no Brasil--um estudo nacional

As an example, at the beginning (i.e., MJD 56658.0), both NIS2 and NIST are 0.

A Study of GPS Carrier-Phase Time Transfer Noise Based on NIST GPS Receivers

Animal production is one of the most important activities of the agricultural sector and its contribution to the total agriculture is 55%, with total income of 376 MJD. With the population increase, the demand on animal's productes increased, this is reflected by the increase in animals numbers.

Adaptation of winter crops for summer cultivation and salinity stresses in Mediterranean region: selection for double-cropping and crop rotation

All entries will be reviewed by a judging panel including JF Street Food, Co-founder, Alia Al Mazroui, Asil Attar, fashion designer Hussein Bazaza and up and coming artist MJD Kadi.

Dubai\ s Just Falafel rebranded to JF Street Food

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]].

Irregularity observed in the light curve of the companion of PSR J1723-2837

[19.] Pepera G, Cardoso F, Taylor MJD, Peristeropoulos A, Sandercock GRH (2013) Predictors of shuttle walking test performance in patients with cardiovascular disease.

Assessment of the capability of organism's cardiorespiratory system for adaptation: a review

The vehicle is available with a range of engines including a 1.2-litre petrol engine producing 67bhp and 96Nm of torque, and 1.3-litre MJD diesel engine in two states of tune, 76bhp/193Nm and 90bhp/209Nm.