Spinocerebellar ataxia type 1
Spinocerebellar ataxia type 1
Definition
Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities.
Also known as ATXN1 autosomal dominant cerebellar ataxia type I, autosomal dominant cerebellar ataxia type I caused by mutation in ATXN1, SCA1, spinocerebellar ataxia type 1 — per MONDO
Also identified as
- DOID 0050954 per MONDO
- NCIT C129982 per MONDO
- OMIM 164400 per MONDO
- Orphanet 98755 per MONDO
- SCTID 715748006 per MONDO
- UMLS C0752120 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 |