Friedreich's Ataxia

Friedreich’s ataxia Friedreich’s ataxia is an inherited disease that causes progressive damage to the nervous system resulting in things like gait disturbance, speech problems, heart disease and diabetes. Friedreich’s ataxia is caused by a defect in a gene called Frataxin, which is located on chromosome 9. The changes in this gene cause the body to produce too much trinucleotide repeat (GAA).

This mutation causes gene silencing through induction of a heterochromatin structure in a manner similar to position-effect variegation. Normally, the body contains about 8 to 30 copies of GAA, however the people with Friedreich’s ataxia may have as many as 1,000 copies. The more copies of GAA a person has, the earlier the disease will start and the faster it will get worse. Symptoms typically begin sometime between the ages of 5 to 15, but in rare cases, Friedreich’s ataxia may occur around the ages of 20 to 30.

Some of the symptoms are; abnormal speech, changes in vision (particularly color vision), decrease in ability to feel vibrations in lower limbs, foot problems, hearing loss, jerky eye movements, loss of coordination and balance, frequent falls, muscle weakness, no reflexes in the legs, and uncoordinated movements. Friedreich’s ataxia is an autosomal recessive genetic disorder. This means you must get a copy of the defective gene from both your mother and father. About 1 in every 22,000-29,000 people develop this disease but family history of the condition raises your chances of getting it.

On average, after 10-15 years with the disease patients are usually wheelchair bound and require assistance with all activities. Unfortunately, there is no known cure for Friedreich’s ataxia. There are, however, medicines, therapy treatments and surgeries available to those who are affected but it will not rid them of the disease. Titanium screws and rods are often inserted in the spine to help prevent or slow the progression of this disease. The goal of surgery is to keep the patient alive as long as possible. As the ataxia progresses, things such as a cane, walker, or wheelchair are required for mobility.

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