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gptkbp:instanceOf
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gptkb:disease
neurodegenerative disease
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gptkbp:affects
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gptkb:spinal_cord
gptkb:cerebellum
brainstem
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|
gptkbp:alsoKnownAs
|
gptkb:Machado-Joseph_disease
Spinocerebellar ataxia type 3
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|
gptkbp:category
|
cerebellar ataxia
trinucleotide repeat disorder
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gptkbp:diagnosedBy
|
neurological examination
genetic testing
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gptkbp:firstDescribed
|
1972
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gptkbp:geographicPrevalence
|
higher in Portuguese-Azorean descent
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gptkbp:hasOrphanetID
|
ORPHA98753
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SCA3
|
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gptkbp:ICD-10_code
|
G11.2
|
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gptkbp:inheritance
|
autosomal dominant
|
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gptkbp:inheritanceRisk
|
50% for offspring of affected parent
|
|
gptkbp:involvesProtein
|
gptkb:ataxin-3
|
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gptkbp:MeSH_ID
|
D020754
|
|
gptkbp:molecularMechanism
|
CAG repeat expansion in ATXN3 gene
|
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gptkbp:mutationAssociatedWith
|
ATXN3 gene
|
|
gptkbp:namedAfter
|
gptkb:Machado_family
gptkb:Joseph_family
|
|
gptkbp:OMIM
|
109150
|
|
gptkbp:onset
|
adulthood
|
|
gptkbp:prevalence
|
rare
|
|
gptkbp:prognosis
|
variable
|
|
gptkbp:progression
|
progressive
|
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gptkbp:symptom
|
spasticity
peripheral neuropathy
ataxia
dystonia
parkinsonism
dysarthria
ophthalmoplegia
|
|
gptkbp:treatment
|
supportive care
occupational therapy
physical therapy
speech therapy
|
|
gptkbp:UMLS_CUI
|
C0085437
|
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gptkbp:bfsParent
|
gptkb:Spinocerebellar_Ataxia
|
|
gptkbp:bfsLayer
|
7
|