Friedrich’s Ataxia

  • Genetics: AR. GAA triplet expansion repeat in Frataxin on 9q13.
  • Pathophysiology: leads to abnormal iron handling in mitochondria à oxidative stress
  • Onset: adolescence
  • Neurologic features
    • Cerebellar dysfunction
    • Loss of deep tendon reflexes
    • Sensory ataxia
    • Pyramidal weakness
    • Optic atrophy
    • Hearing loss
  • Other signs
    • Diabetes: fingerpricks, insulin injection sites
    • Cardiomyopathy: HOCM, heart failure, arrhythmia
    • Skeletal deformity: pes cavus, talipes