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gptkbp:instanceOf
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neurodegenerative disease
genetic disorder
spinocerebellar ataxia
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gptkbp:abbreviation
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gptkb:MJD
gptkb:SCA3
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gptkbp:affects
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gptkb:spinal_cord
gptkb:cerebellum
brainstem
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gptkbp:alsoKnownAs
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gptkb:spinocerebellar_ataxia_type_3
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gptkbp:associatedWith
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CAG repeat expansion
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gptkbp:category
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trinucleotide repeat disorder
polyglutamine disease
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gptkbp:causedBy
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mutation in ATXN3 gene
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gptkbp:diagnosedBy
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genetic testing
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gptkbp:firstDescribed
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1972
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gptkbp:frequency
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rare
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https://www.w3.org/2000/01/rdf-schema#label
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Machado-Joseph disease
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gptkbp:ICD-10_code
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G11.2
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gptkbp:inheritance
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autosomal dominant
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gptkbp:namedAfter
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gptkb:Machado_family
gptkb:Joseph_family
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gptkbp:OMIM
|
109150
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gptkbp:onset
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adulthood
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gptkbp:parent
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spinocerebellar ataxia
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gptkbp:prevalence
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higher in people of Azorean descent
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gptkbp:progression
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progressive
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gptkbp:symptom
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muscle stiffness
spasticity
ataxia
dystonia
parkinsonism
dysarthria
ophthalmoplegia
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gptkbp:treatment
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no cure
symptomatic
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gptkbp:bfsParent
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gptkb:ATXN3
gptkb:SCA3
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gptkbp:bfsLayer
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8
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