loading...| Preferred Name |
Machado-Joseph Disease |
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| Synonyms |
Spinocerebellar Ataxia Type 3 Machado-Joseph's Disease Autosomal Dominant Striatonigral Degeneration Joseph Disease Nervous System Azorean Disease Machado-Joseph Azorean Disease Joseph's Disease Machado-Josephs Disease Josephs Disease Joseph Azorean Disease |
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| Definitions |
A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy (MeSH). |
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| ID |
http://uri.neuinfo.org/nif/nifstd/birnlex_12650 |
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| Obsolete |
true |
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| createdDate |
2007-10-05 |
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| definingCitation |
Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96 |
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| definingCitationURI |
http://www.ninds.nih.gov/disorders/machado_joseph/machado_joseph.htm |
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| definition |
A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy (MeSH). |
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| hasBirnlexCurator | ||
| hasCurationStatus | ||
| hasDefinitionSource | ||
| hasExternalSource | ||
| label |
Machado-Joseph Disease |
|
| MeshUid |
D017827 |
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| modifiedDate |
April 11, 2009 |
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| owl:deprecated |
true |
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| preferred label |
Machado-Joseph Disease |
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| putativeClassExtension |
Machado-Joseph Disease Type III Machado-Joseph Disease Type II Machado-Joseph Disease Type IV Machado-Joseph Disease Type I |
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| synonym |
Joseph Azorean Disease Josephs Disease Machado-Josephs Disease Joseph's Disease Machado-Joseph Azorean Disease Nervous System Azorean Disease Joseph Disease Autosomal Dominant Striatonigral Degeneration Machado-Joseph's Disease Spinocerebellar Ataxia Type 3 |
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| usageNote |
MeSH includes qualified subtypes |
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| subClassOf |