Statements (38)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
Neurodegenerative disease
Genetic disorder |
| gptkbp:affects |
gptkb:Cerebellum
Spinal cord |
| gptkbp:associatedWith |
CAG repeat expansion
|
| gptkbp:cause |
Genetic mutation
|
| gptkbp:diagnosedBy |
MRI
Genetic testing |
| gptkbp:field |
Neurology
Medical genetics |
| gptkbp:firstDescribed |
19th century
|
| https://www.w3.org/2000/01/rdf-schema#label |
Spinocerebellar Ataxia
|
| gptkbp:ICD-10_code |
G11.1
|
| gptkbp:inheritance |
Autosomal dominant
Autosomal recessive |
| gptkbp:MeSH_ID |
D020754
|
| gptkbp:OMIM |
164400
|
| gptkbp:prevalence |
Rare
|
| gptkbp:progression |
Chronic
|
| gptkbp:riskFactor |
Family history
|
| gptkbp:subspecies |
gptkb:SCA17
gptkb:SCA1 gptkb:SCA2 gptkb:SCA3 gptkb:SCA6 gptkb:SCA7 |
| gptkbp:symptom |
gptkb:Ataxia
gptkb:Tremor Dysphagia Dysarthria Gait disturbance Muscle stiffness Nystagmus |
| gptkbp:treatment |
Supportive care
Physical therapy Speech therapy |
| gptkbp:bfsParent |
gptkb:SCA
|
| gptkbp:bfsLayer |
6
|