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A rare, inherited form of paralysis with uncoordinated movements

Friedreich's Ataxia (named after the first physician who described the disease, German doctor Nikolaus Friedreich,in 1863) is a rare inherited neurological disease affecting circa 1 in 50.000 patients. The symptoms usually appear between 5 and 15 years, but there have been cases diagnosed at 30 years and 18 months. The first symptoms are slight clumsiness, foot dragging and loss of muscletone over lower and upper limbs. With progressive lack of control over the muscles, deformities like clubfoot appear and sensation starts to disappear in the extremities. Rapid, involuntary eyemovements (nystagmus)are common and the speech of the patient deteriorates. Cardiac arrythmias and changes of the heartmuscles (myocardic hypertrophy) develop and most patients are wheelchair bound or totally incapacitated after 15 to 20 years.

The disease is autosomal recessive, meaning that each parent of the patient has to pass the gene on to the affected child. About one in 90 Europeans carry the gene (which would make ca 84 noders) . The genetic effect seems to be a replication ot the base triplet GAA, located on Chromosome 9. This type of abnormality is called a triplet repeat expansion and has been implicated as the cause of several dominantly inherited diseases. Friedreich's ataxia is the first known recessive genetic disease that is caused by a triplet repeat expansion. Although about 98 percent of Friedreich's ataxia carriers have this particular genetic triplet repeat expansion, it is not found in all cases of the disease.

Treatment is not curative and can only prolong function.

There are multiple selfhelp groups in pretty much every western country, and for the patients it often helps to know that they're not alone.

Oxford Handbook of clinical Medicine

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