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Thursday, August 21, 2014
Inherited Disorders and Birth Defects
I have Friedreich Ataxia and I want to know if you could tell me what will happen to me over the years with diesease?
Friedreich ataxia (FRDA) is a slowly progressive ataxia (a loss of balance and problems coordinating movement of legs and walking) that usually starts in the mid teens and usually before the age of 25 years. One of the first problems seen in people with FRDA is difficulty walking, not having reflexes in the legs, a loss of sensation in the lower legs and muscle weakness. This slowly spreads to the arms and then affects the trunk. Trouble swallowing (dysarthria) or problems with speech occur as time passes. People with FRDA can also have scoliosis (curvature of the spine), pes cavus (the breast bone sunken in), heart problems and glucose intolerance, or diabetes. People with FRDA must use a wheelchair over time, usually about 15-20 years after the first signs of the disease. If someone has a lot of heart involvement, they may die in early adulthood. People with milder symptoms may live into their 50’s and 60’s.
While there is no cure for Friedreich's ataxia, many of the problems and complications can be treated to help patients keep as much function as long as possible. Physical therapy may help with the use of muscles in the arms and legs. Heart problems and diabetes are usually treated with medications. Problems such as scoliosis (curved spine) or foot problems can be treated with braces or surgery. From person to person, the symptoms may vary a great deal.
I would recommend that you talk with your doctor or a specialist in neuromuscular diseases who will be able to discuss your questions in light of your specific symptoms and problems.
There is very good information about FRDA at the Muscular Dystrophy Association (MDA) website listed below.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University