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Friedreich's ataxia

Ataxia Friedreichi · Friedreichova ataxie

What it is

An inherited loss of the protein frataxin that slowly destroys spinal-cord nerves and heart muscle, starting in adolescence.

Symptoms & signs

  • Unsteady walk and falls
  • clumsy hands
  • slurred speech
  • lost reflexes and position sense
  • scoliosis and high-arched feet
  • enlarged heart

🚩 Get help if…

  • call 112 / 911 now Chest pain, fainting or a racing irregular heartbeat
  • call 112 / 911 now Breathless at rest or swollen legs
  • see a doctor soon Choking or coughing when swallowing
  • see a doctor soon Very thirsty and passing lots of urine (diabetes)

Where it strikes

Medical treatment

  • Genetic test
  • omaveloxolone (the first licensed drug)
  • physiotherapy and mobility aids
  • heart and diabetes monitoring
  • scoliosis care

Natural & lifestyle

  • Regular exercise and balance training
  • healthy diet

Emerging & experimental

  • Gene therapy
  • frataxin replacement (nomlabofusp)

Alternative, off-label & anecdotal

Approaches used outside the guidelines, with what their supporters report and what testing has found so far.

  • Idebenone and coenzyme Q10 — trials disagree mixed evidence
  • Vitamin E with CoQ10 — small studies early / small studies
  • Stem-cell clinics — unproven anecdotal / traditional

ICD codes