Conditions / Genetic

spinocerebellar ataxia 14

info ยท Genetic

An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the PRKCG gene.

Signs and symptoms

  • Dysphagia
  • Dysmetria
  • Memory impairment
  • Cerebellar atrophy
  • Dysarthria
  • Gait ataxia
  • Impaired vibration sensation at ankles
  • Focal dystonia
  • Progressive cerebellar ataxia
  • Nystagmus