Friedreich's ataxia is a debilitating, life-shortening, degenerative, neuro-muscular disorder. There are approximately 5,000 patients in the US and 15,000 globally.  It is a single gene defect disorder that prevents the production of a protein frataxin (FXN).  Frataxin is a vital protein whose function is helping the mitochondria produce energy.

Neurological cells degenerate in FA patients over time. This results in:

  • Loss of feeling and control of arms and legs (ataxia)
  • Aggressive scoliosis
  • Hypertrophic cardiomyopathy and arrhythmia
  • Fatigue, energy deprivation, and muscle loss
  • Diabetes
  • Vision impairment, hearing loss and slurred speech