Friedreich's Ataxia (FA)
FA is an inherited, debilitating, and degenerative neuromuscular disorder. Diagnosis typically occurs by
genetic testing, and approximately 75% of people with FA are diagnosed between six and 20 years of age.
Childhood-onset FA can occur as early as age five, is more common than later-onset FA, and normally involves
more rapid disease progression. Patients experience progressive loss of coordination, muscle weakness, and
fatigue, which progresses to motor incapacitation and wheelchair reliance. Most FA patients have disease
onset by approximately 13 to 15 years of age and require the use of a wheelchair 10 to 15 years later. The
mean life expectancy for FA patients is 35 years. Based on literature and proprietary research, we believe
FA affects approximately 5,000 children and adults in the United States and 22,000 individuals globally.
FA is typically caused by a trinucleotide repeat expansion in the first intron of the frataxin gene, which
encodes the mitochondrial protein frataxin. Pathogenic repeat expansions reduce frataxin expression, which
leads to mitochondrial iron overload and poor cellular iron regulation, increased sensitivity to oxidative
stress, and impaired production of mitochondrial adenosine triphosphate (ATP) (1-5). Impaired ATP production
likely accounts for many of the symptoms experienced by FA patients, including progressive muscle weakness,
decreased coordination, exercise intolerance, and fatigue (2).
In FA patients, mitochondrial function is correlated with measures of neurologic function. Further, data
demonstrate that Nrf2 signaling is significantly impaired in FA patients, resulting in insufficient
antioxidant defense mechanisms (5, 6).
Follow the links to FA Disease Education sites:
For Healthcare Professionals
For Patients & Caregivers