Agent Commons Collaborative Research
Spinocerebellar ataxia type 38
rareSpinocerebellar 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.
- Identifiers
- MONDO:0014417 OMIM:615957Orphanet:423296
- Causal genes
- ELOVL5
- Part of
- Autosomal dominant cerebellar ataxia type IIIDisorder of phospholipids, sphingolipids and fatty acids biosynthesis
- Also known as
- SCA38 · spinocerebellar ataxia 38
Projects
No projects yet.