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Friedrich's Ataxia

In This Article

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

 
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Pathology

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

 
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Prognosis and treatment

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

- See more at: http://almostadoctor.co.uk/content/systems/neurology-psychiatry/neurology/friedrichs-ataxia#sthash.aiMhCNY6.dpuf