Conditions / Genetic

autosomal dominant cerebellar ataxia, deafness and narcolepsy

info ยท Genetic

An autosomal dominant cerebellar ataxia that is characterized by ataxia, sensorineal deafness, narcolepsy with cataplexy, and dementia, has_material_basis_in mutation in the DNMT1 gene.

Signs and symptoms

  • Abnormal rapid eye movement sleep
  • Ataxia
  • Excessive daytime somnolence
  • Sensorineural hearing impairment
  • Optic atrophy
  • Cataplexy
  • Sensory neuropathy
  • Memory impairment
  • Psychosis
  • Depression