Spinocerebellar ataxia type 6

Definition

Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus.

Also known as autosomal dominant cerebellar ataxia type III caused by mutation in CACNA1A, CACNA1A autosomal dominant cerebellar ataxia type III, SCA6, spinocerebellar ataxia type 6 — per MONDO

Also identified as

• DOID 0050956 per MONDO
• NCIT C142838 per MONDO
• OMIM 183086 per MONDO
• Orphanet 98758 per MONDO
• SCTID 715752006 per MONDO
• UMLS C0752124 per MONDO

Affected Organs