Friedreich's ataxia

  • Facts:
    Autosomal recessive, excessive number of trinucleotide repeats
    Cerebellar dysfunction starts between 5-15 yo, and progreeively gets worse until most patients are wheel chair bound by age 25, and dead by 30-35 years old

    MCC of death are cardiomyopathy and respiratory complications
  • History / PE:
    Neurologic (ataxia, dysarthria)
    Skeletal (scoliosis, feet deformities)
    Cardaic (concentric hypertrophic cardiomyopathy )
    Loss of vibration and position sense
  • Diagnosis:
    Necrosis and degeneration of cardiac muscle fibers leads to myocarditis, myocardial fibrosis and cardiomyopathy

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August 6th 2010