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