spinocerebellar ataxia type 3

GPTKB entity

Predicate	Object
gptkbp:instanceOf	neurodegenerative disease genetic disorder
gptkbp:abbreviation	gptkb:SCA3
gptkbp:affects	gptkb:spinal_cord gptkb:cerebellum brainstem
gptkbp:alsoKnownAs	gptkb:Machado-Joseph_disease
gptkbp:associatedWith	CAG trinucleotide repeat expansion
gptkbp:category	spinocerebellar ataxia trinucleotide repeat disorder polyglutamine disease
gptkbp:diagnosedBy	genetic testing
gptkbp:firstDescribed	1972
gptkbp:frequency	rare disease
gptkbp:hasOrphanetID	ORPHA987
https://www.w3.org/2000/01/rdf-schema#label	spinocerebellar ataxia type 3
gptkbp:ICD-10_code	G11.1
gptkbp:inheritance	autosomal dominant
gptkbp:inheritanceRisk	50% if one parent affected
gptkbp:involvesProtein	gptkb:ataxin-3
gptkbp:mutationAssociatedWith	ATXN3 gene
gptkbp:namedAfter	gptkb:Machado_family gptkb:Joseph_family
gptkbp:OMIM	109150
gptkbp:onset	adulthood
gptkbp:prevalence	most common SCA worldwide
gptkbp:progression	progressive
gptkbp:regionOfDiscovery	gptkb:Azores,_Portugal
gptkbp:symptom	spasticity peripheral neuropathy ataxia dystonia parkinsonism muscle rigidity dysarthria ophthalmoplegia
gptkbp:treatment	supportive care occupational therapy physical therapy speech therapy
gptkbp:bfsParent	gptkb:ATXN3
gptkbp:bfsLayer	8