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
- Vision impairment, hearing loss and slurred speech