Get answers to your specific medical questions from UM Medical Center experts.
Friedreich's ataxia is a rare disease passed down through families (inherited) that affects the muscles and heart.
Friedreich's ataxia is caused by a defect in a gene called Frataxin (FXN), which is located on chromosome 9. Changes in this gene cause the body to produce too much of part of DNA called trinucleotide repeat (GAA). Normally, the body contains about 8 to 30 copies of GAA. Those with Individuals with Friedreich's ataxia have as many as 1,000 copies. The more copies of GAA a patient has, the earlier in life the disease starts and the faster it gets worse.
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 develop this disease. Family history of the condition raises your risk.
|
A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is the first of its kind, requiring compliance with 53 standards of quality and accountability, verified by independent audit. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial process . A.D.A.M. is also a founding member of Hi-Ethics (www.hiethics.com) and subscribes to the principles of the Health on the Net Foundation (www.hon.ch). |