Conditions / Genetic

spinocerebellar ataxia 31

info ยท Genetic

An autosomal dominant cerebellar ataxia that is characterized by late-onset ataxia, dysarthria and horizontal nystagmus, has_material_basis_in repeat expansion mutation in the BEAN1 gene.

Signs and symptoms

  • Gaze-evoked horizontal nystagmus
  • Nystagmus
  • Cerebellar atrophy
  • Dysarthria
  • Gait ataxia
  • Ataxia
  • Limb ataxia
  • Sensorineural hearing impairment