Please confirm topic selection

Are you sure you want to trigger topic in your Anconeus AI algorithm?

Please confirm action

You are done for today with this topic.

Would you like to start learning session with this topic items scheduled for future?

Updated: Jun 23 2020

Friedrich Ataxia

  • Snapshot
    • A 13-year-old male from Switzerland presents with clumsiness and constant falls. These symptoms have progressively worsened for the past 8 months. On physical examination, there is both upper and lower extremity limb ataxia and lower extremity weakness, with an absence of patellar and ankle deep tendon reflexes. The patient has a deficit on position and vibration sense, with intact pain and temperature sensation. Kyphoscoliosis is appreciated on exam. An MRI of the brain and spine is performed, which does not show cerebellar atrophy but atrophy in the spinal cord and medulla.
  • Introduction
    • Autosomal recessive mutation in the frataxin gene on chromosome 9
      • trinucleotide repeat (GAA)n
      • frataxin is a mitochondrial protein
        • involved in iron regulation
      • leads to spinal cord tract degeneration
        • e.g., posterior columns, corticospinal tracts, spinocerebellar tracts
      • other degenerative locations
        • dorsal root ganglia
        • certain cerebellar cells
          • dendate nucleus
        • certain cranial nerves (e.g., VII, X, XII)
        • primary motor cortex Betz cells
    • Associations
      • hypertrophic cardiomyopathy
      • diabetes mellitus
      • kyphoscoliosis
  • Epidemiology
    • Most common hereditary ataxia
    • Usually presents in adolescent years
  • Presentation
    • Symptoms
      • staggering gait
      • frequent falling
      • wheelchair bound by second decade
    • Physical exam
      • nystagmus
      • dysarthria
      • decreased vibratory and proprioceptive senses
      • muscle weakness
      • loss of deep tendon reflexes
      • musculoskeletal deformities
        • pes cavus
        • hammer toes
        • kyphoscholiosis
  • Evaluation
    • This is a clinical diagnosis with genetic confirmation
    • MRI
      • to exclude other causes
      • to look for cerebellar atrophy
    • Genetic testing
      • for triplet repeat expansion
    • Electrocardiogram
      • ventricular hypertrophy
      • inverted T waves
  • Differential
    • Ataxia-telangiectasia
    • Vitamin E deficiency
    • Refsum disease
  • Treatment
    • No disease-modify therapy specific for Friedreich's ataxia
    • Multidisciplinary approach
  • Prognosis, Prevention, and Complications
    • Prognosis
      • usually wheel-chair bound by 20s
      • death by mid 30s
    • Complications
      • hypertrophic cardiomyopathy
      • type 2 diabetes mellitus
      • pes cavus
Card
1 of 0
Question
1 of 2
Private Note