Spinocerebellar ataxia type 38

Definition

Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.

Also known as SCA38, spinocerebellar ataxia type 38 — per MONDO

Also identified as

• DOID 0050985 per MONDO
• OMIM 615957 per MONDO
• Orphanet 423296 per MONDO
• SCTID 734021001 per MONDO
• UMLS C4518337 per MONDO