Conditions / Genetic
spinocerebellar ataxia 34
info · Genetic
An autosomal dominant cerebellar ataxia that is characterized by papulosquamous, ichthyosiform plaques at birth and progressive ataxia, dysarthria, nystagmus and hyporeflexia, has_material_basis_in mutation in the ELOVL4 gene.
Signs and symptoms
- Dysarthria
- Limb ataxia
- Nystagmus
- Hyporeflexia
- Erythroderma
- Hyperkeratosis
- Cerebellar atrophy
- Gait ataxia
- Impaired smooth pursuit
- Peripheral axonal neuropathy