Friedreich’s Ataxia

Friedreich’s Ataxia is a rare genetic disease that affects approximately one in 50,000 people in the United States and Europe1. Symptoms usually appear early in life, between ages 10 and 12, though they may be delayed until adulthood. An early symptom is loss of control of body movements (ataxia), often starting with difficulty in walking, then spreading to the upper limbs and trunk. The nervous-system damage is often accompanied by heart damage. Cardiac symptoms may include enlargement of the heart, fibrosis of heart tissue, and heart-rhythm abnormalities, leading to the majority of deaths of Friedreich’s Ataxia patients, with death usually occurring in early adulthood.

Friedreich’s Ataxia is caused by a mutation in a gene termed FXN. The mutation limits production of the protein encoded by FXN, called frataxin, which is essential to normal function of mitochondria, the “energy factories” of the cell. The disorder is autosomal recessive, meaning that it arises only if a person has inherited two copies of the mutated gene, one from each parent. There are no approved curative treatments.

References:

  1. Schulz, J. B. et al. Nat. Rev. Neurol. 5, 222–234 (2009) and FARA website (http://www.curefa.org/whatis). 2: Tsou AY et al, J Neurol Sci 2011;307(1- 2):46-49 “Mortality in Friedreich Ataxia”

Resources for Friedreich’s Ataxia