Friedrich’s Ataxia
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Introduction

Friedrich’s ataxia is an autosomal recessive disorder resulting from a repeat nucleotide sequence (GAA) in the frataxin gene, which codes for the mitochondrial protein frataxin. It most commonly causes cerebellar signs but can also affect other neurological pathways

Pathology

Deficiency of the frataxin protein causes mitochondrial iron-overload, and impaire mitochondrial function.
The disease causes neuronal degeneration. Most commonly
 

Signs and Symptoms

  • Gait problems – between age 5-15 – wide based ataxic gait
  • Upper limb ataxia and dysarthria– appear after gait abnormalities
  • Nystagmus
  • Declining mental function
  • Lower limb paresis may occur in some patients
  • Reduction / loss of reflexes
  • Loss of vibration and joint positional senses

Complications

Prognosis and treatment

  • There is no cure
  • Life expectancy is about 50 years
  • Surgery may provide symptomatic relief

References

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Dr Tom Leach

Dr Tom Leach MBChB DCH EMCert(ACEM) FRACGP currently works as a GP and an Emergency Department CMO in Australia. He is also a Clinical Associate Lecturer at the Australian National University. After graduating from his medical degree at the University of Manchester in 2011, Tom completed his Foundation Training at Bolton Royal Hospital, before moving to Australia in 2013. He started almostadoctor whilst a third year medical student in 2009. Read full bio

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