Friedreich’s Ataxia



  • Autosomal recessive
  • Frataxin gene chr. 9. Protein= Frataxin. GAA nucleotide repeat (normal repeat number is 6-27). Compound heterozygotes occur in 5%.

Clinical features:

  • Ataxia & dysarthria
  • Areflexia, extensor plantars
  • Hammer toes arched foot, scoliosis


Gross: atrophy of spinal cord. Grey discolouration of posterior & lateral aspects of the spinal cord. Small sensory nerve roots.
Microscopically: Brain stem: atrophy of the dentate nucleus and superior cerebellar peduncle. Neuronal loss in vestibular and cochlear nuclei. Spinal cord: degeneration of posterior columns, spinocerebellar tracts and corticospinal tracts. Neuronal loss in Clarkes column. Dorsal root ganglia: neuronal loss.

Findings on investigations:

Echocardiogram: cardiomyopathy
Fasting blood glucose: diabetes mellitus
ECG: conduction defects


Supportive care
Consider Co-enzyme Q, Vitamin E

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