FA is a degenerative, genetic, neurological disease that appears predominantly in children and teenagers, usually first diagnosed between the ages of 5 and 15. FA causes difficulty walking, talking and performing everyday functions, soon leaving sufferers wheelchair-bound.
FA is a progressive condition and in time causes weakening of the limbs and in turn complete incapacitation. It does not affect intellectual capacity. It’s associated with vision, hearing and speech failure, combined with severe heart disease, scoliosis and diabetes and greatly reduced life expectancy.
FA is extremely rare, currently believed to affect about 1 in 50,000 people in Australia and New Zealand.
Cause
FA is caused by a defect in the genetic code by which the body functions (DNA). This defect results in reduction or lack of production of an important protein known as frataxin. Frataxin is an important protein in mitochondria, an energy powerhouse within cells and low frataxin levels are thought to result in poor energy production in cells, susceptibility to free radicals which can damage organs, and accumulation of iron in mitochondria.
Origin of the name
Ataxia comes from a Greek word meaning lacking coordination . There are many Ataxias, each with different causes, hereditary factors and symptoms. FAN and the information collected here is focussed specifically on Friedreich Ataxia (FA).