Conditions / Genetic

Friedreich ataxia 1

info · Genetic

A Friedreich ataxia that has_material_basis_in homozygous or compound heterozygous mutation in FXN on 9q21.1.

Signs and symptoms

  • Abnormal EKG
  • Mitochondrial malic enzyme reduced
  • Gait ataxia
  • Ataxia
  • Diabetes mellitus
  • Nystagmus
  • Decreased pyruvate carboxylase activity
  • Abnormality of the cardiovascular system
  • Decreased sensory nerve conduction velocity
  • Scoliosis

Also known as: FA1; FRDA1