Conditions / Genetic

spinocerebellar ataxia 6

info ยท Genetic

An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, has_material_basis_in mutation in the CACNA1A gene.

Signs and symptoms

  • Cerebellar atrophy
  • Progressive cerebellar ataxia
  • Ataxia
  • Slurred speech
  • Gaze-evoked horizontal nystagmus
  • Dysphagia
  • Dysarthria
  • Abnormal vestibulo-ocular reflex
  • Impaired smooth pursuit
  • Sensory neuropathy