Friedreich's ataxia is an inherited disease that causes damage to the nervous system that gets worse as it goes on, causing symptoms ranging from speech problems to heart disease. It is named after the physician Nicholaus Friedreich, who first described the condition in the 1860s. "Ataxia," which means coordination problems such as clumsy or odd movements and unsteadiness. Friedreich’s diseases occurs in many different diseases and conditions. The ataxia of Friedreich's ataxia results from the collapse of nerve tissue in the spinal cord and nerves that control muscle movement in the arms and legs. The spinal cord gets thinner and nerve cells don’t function well. Friedreich's ataxia, although rare, is the most common inherited ataxia, affecting about 1 in every 50,000 people in the U.S. Males and females are affected the same.
The symptoms usually begin between the ages of 5 and 15 but can appear as early as 18 months or as late as 50 years of age on rare occasions. The first symptom to appear is usually trouble walking. The ataxia gradually worsens and slowly spreads to the arms and then the buttox. Foot deformities such as clubfoot, involuntary bending of the toes, hammer toes, or turning inward can be early signs. Over time, muscles start to weaken and fade away, especially in the feet, lower legs, and hands and deformities develop. Other symptoms include loss of reflexes, especially in the knees and ankles. There is often a slow loss of sensation in the extremities, which may spread to other parts of the body. Slowness and speech slurring develops. Rapid, rhythmic, uncontrollable movements of the eye are common. Most people with Friedreich's ataxia develop a curving of the spine to one side, which, if severe and can give trouble breathing.
The progression rate changes from person to person. Mostly, within 10 to 20 years after the first symptoms the person is trapped in a wheelchair, and in later stages of the disease individuals become...