Friedreich's Ataxia is a slowly progressive genetic disorder of the nervous system and muscles. Symptoms may first appear any time between the ages of 5 and 15; however, a small group of patients have late onset of FA. In all cases the condition causes an inability to coordinate voluntary muscles movements (ataxia).
This condition is caused by degeneration of nerve tissue in the spinal cord and of the nerves that extend to peripheral areas such as the arms and legs. The major symptoms include muscle weakness, loss of coordination, excessive fatigue, severely reduces energy, slurred speech, scoliosis, and diabetes. There are conditions associated with Friedreich's Ataxia that do not result from degeneration of the nerves. Heart disease, sometimes in forms severe enough to be fatal, is one of the more common and threatening conditions. Abnormalities in heartbeat rhythm and diminished strength of the heart muscle have been noticed in a large percentage of Friedreich's Ataxia patients. Palpitations and shortness of breath the most common symptoms. Some patients exhibit hypertrophic cardiomyopathy (abnormal enlargement of the heart muscle).
Although rare, Friedreich's Ataxia is the most prevalent inherited ataxia, affecting about 1 in every 50,000 people in the US, but 1 in every 100 people are carriers of the gene. Some estimates have placed the persons affected by the disorder worldwide at between 30,000 and 250,000 souls. Most young people diagnosed with Friedreich's Ataxia require mobility aids such as a cane, walker or wheelchair by their teens or early 20s.
Friedreich's Ataxia is one of the 43 neuromuscular diseases supported by the Muscular Dystrophy Association (MDA) - MDA Tax ID #13-1665552
P.O. Box 674867, Marietta, GA 30006 -- Phone (770) 850-0533
Fax (770) 850-0733