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Updated: Mar 13 2018

Friedreich Ataxia

  • Snapshot
    • A 23 year old male with a past medical history of diabetes mellitus presents with muscle weakness, staggering gait with frequent falling, dysarthria and a curvature in his upper spine. On physical exam the patient is noted to have marked muscle weakness (2/5 in upper and lower extremitites), a loss of deep tendon reflexes, nystagmus as well as pes cavus and kyphoscoliosis. Patient had a recent ED visit for pneumonia and a bedside ultrasound demonstrated a hypertrophic cardiomyopathy.
  • Introduction
    • Congenital impairment of mitochondrial function leading to cerebellar and spinal cord degeneration
      • due to a mutation in the frataxin gene which is essential for mitochondrial iron regulation
    • Presents in childhood
    • Autosomal recessive
      • trinucleotide repeat disorder (GAA) on chromosome 9
  • Presentation
    • Symptoms
      • staggering gait
      • frequent falling
      • wheelchair bound by first decade
      • insulin resistance
      • dysarthria
    • Physical exam
      • nystagmus
      • neurological sequelae
        • decreased vibratory and proprioceptive senses
        • muscle weakness
        • loss of deep tendon reflexes
      • musculoskeletal deformities
        • pes cavus
        • hammer toes
        • kyphoscholiosis
  • Prognosis and Complications
    • Death in adolescence most commonly due to cardiac arrhythmia
      • a sequlae of hypertrophic cardiomyopathy
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