Friedreich ataxia or FA is a genetic disease that damages the nervous system that ultimately results in ataxia -- problems with movement and muscle coordination. Friedreich ataxia is named for the German scientist who discovered it. The disease progresses at a different rate for each person. The usual progression leads to wheelchair use ten to 20 years after the first symptoms appear. Complete incapacitation develops in later stages of the illness. Some people with milder forms of FA can live into their sixties or seventies.
Friedreich ataxia is caused by a mutation of the FXN gene, which contains genetic code for a specific protein -- frataxin. FA is a recessive condition and only develops in people born with two mutated FXN genes. Friedreich ataxia is unique because it is the only known genetically inherited condition, with the exception of sex-linked disorders, that needs two copies of the mutated gene to occur.
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