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Friedreich ataxia: from genes to therapies?

Martin B Delatycki, Panos A Ioannou and Andrew J Churchyard
Med J Aust 2005; 182 (9): 439.
Published online: 2 May 2005

Most cases are caused by a single mutation, paving the way for therapeutic advances for this fatal disease

Friedreich ataxia (FRDA), an autosomal recessive disease, is the commonest of the inherited ataxias’, affecting around 1 in 30 000 people.1 With an average age of onset of 10 years, those affected by this condition become wheelchair-bound on average 10 years after onset. The symptom that heralds onset in the vast majority of cases is increasing incoordination. Onset after 30 years of age is rare. Death ensues, on average, 36 years after disease onset and is largely due to hypertrophic cardiomyopathy.2 Other sources of morbidity in FRDA include an increased incidence of diabetes mellitus, dysarthria, swallowing difficulties, scoliosis, optic atrophy, hearing loss and foot deformity.1

  • Martin B Delatycki1
  • Panos A Ioannou2
  • Andrew J Churchyard3

  • 1 Murdoch Childrens Research Institute, Melbourne, VIC.
  • 2 Monash Institute for Neurological Disease, Monash Medical Centre, Melbourne, VIC.

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