Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
spinocerebellar ataxia |
| gptkbp:affects |
gptkb:cerebellum
retina |
| gptkbp:alternativeName |
Spinocerebellar ataxia type 7
|
| gptkbp:category |
neurodegenerative disease
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
1995
|
| https://www.w3.org/2000/01/rdf-schema#label |
SCA7
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
ATXN7 gene
|
| gptkbp:OMIM |
164500
|
| gptkbp:onset |
childhood
adulthood |
| gptkbp:prevalence |
rare
|
| gptkbp:prognosis |
variable
|
| gptkbp:progression |
progressive
|
| gptkbp:symptom |
vision loss
dysphagia dysarthria progressive ataxia |
| gptkbp:treatment |
supportive care
occupational therapy physical therapy speech therapy |
| gptkbp:bfsParent |
gptkb:Spinocerebellar_Ataxia
|
| gptkbp:bfsLayer |
7
|