Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:abbreviation |
Spinocerebellar ataxia type 2
|
| gptkbp:affects |
gptkb:nervous_system
gptkb:cerebellum |
| gptkbp:associatedWith |
CAG trinucleotide repeat expansion
|
| gptkbp:category |
neurodegenerative disease
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1990
|
| gptkbp:fullName |
Spinocerebellar ataxia type 2
|
| https://www.w3.org/2000/01/rdf-schema#label |
SCA2
|
| gptkbp:ICD-10_code |
G11.1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
ATXN2 gene
|
| gptkbp:OMIM |
183090
|
| gptkbp:onset |
adulthood
|
| gptkbp:prevalence |
rare
|
| gptkbp:progression |
progressive
|
| gptkbp:relatedTo |
other spinocerebellar ataxias
|
| gptkbp:symptom |
muscle stiffness
tremor peripheral neuropathy ataxia dysarthria slow saccadic eye movements |
| gptkbp:treatment |
symptomatic management
|
| gptkbp:bfsParent |
gptkb:Spinocerebellar_Ataxia
|
| gptkbp:bfsLayer |
7
|