Spinocerebellar ataxia type 2
Spinocerebellar ataxia type 2
Definition
A subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.
Also known as ATXN2 autosomal dominant cerebellar ataxia type I, autosomal dominant cerebellar ataxia type I caused by mutation in ATXN2, OPCA2, SCA2, spinocerebellar ataxia type 2 — per MONDO
Also identified as
- DOID 0050955 per MONDO
- DOID 0060204 per MONDO
- NCIT C148315 per MONDO
- OMIM 183090 per MONDO
- Orphanet 98756 per MONDO
- SCTID 715751004 per MONDO
- UMLS C0752121 per MONDO
Affected Organs
| Organ | Involvement | Source |
|---|---|---|
| Central nervous system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Central nervous system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |
| Nervous system | Disease Has Associated Anatomic Site | NCIT · CC BY 4.0 |
| Nervous system | Disease Has Primary Anatomic Site | NCIT · CC BY 4.0 |