Conditions / Genetic
spinocerebellar ataxia 38
info · Genetic
An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and nystagmus, presenting in mid-adulthood, and has_material_basis_in mutation to the ELOVL5 gene.
Signs and symptoms
- Gait ataxia
- Ataxia
- Limb ataxia
- Cerebellar vermis atrophy
- Nystagmus
- Dysarthria
- Peripheral axonal neuropathy
- Slow saccadic eye movements
- Distal muscle weakness
- Tremor