Friedreich Ataxia (FA) is a debilitating, life shortening degenerative neuro-muscular disorder, which affects about 1 in 30,000 people in Australia and New Zealand.
It is most commonly diagnosed between the ages of 5 and 18 years and robs children and young adults of their mobility.
FA leads to loss of muscle co-ordination, fatigue, vision impairment, hearing loss and slurred speech, scolosis (curvature of the spine), diabetes and serious heart conditions.
It is caused by an inherited genetic mutation that limits the production of a protein called frataxin. This protein is needed by the mitochondria, which are the energy producing organelles in our cells. Without it the cells do not function properly resulting in debilitating medical problems, particularly neurological and cardiac.
1 in 90 people are carriers and don’t even know it until it affects their family.
Although there has been significant progress towards treatments, today there is no cure.