What is Friedreich's Ataxia?
Friedreich's ataxia is an inherited disease of the central nervous system first identified in the early 1860's by Nikolaus Friedreich of Heidelberg, Germany. Symptoms usually begin in childhood or youth as the result of deterioration in areas of the brain controlling muscle coordination, the spinal cord, and nerves. People with Friedreich's ataxia usually suffer from reduced muscle coordination and an irregular gait. Both arms and legs may become weak, and tasks requiring good coordination, like writing, may become difficult. There may be impaired speech. The spine may begin to curve to one side and the feet may become rigid or deformed. There may be numbness and loss of sensation in all parts of the body, and some patients experience vision and hearing problems. A few patients suffer mental impairment. Diabetes is present in many Friedreich's ataxia patients, and in some patients the heart muscles may be weakened.

Who gets Friedreich's ataxia?
FRDA affects approximately two out of every 100,000 people, or about 5,000 people in the United States. Males and females are equally affected. FRDA is slightly more common among French Canadians. The first symptoms of FRDA usually occur before age 20, but occasionally, onset can be as late as the 50s. FRDA is an inherited disease and, therefore, can't be spread from person to person like an infectious disease.

How is Friedreich's ataxia inherited?
FRDA is due to defects in a gene on chromosome 9 that carries the "recipe," or "code," for a cellular protein known as frataxin. The defects keep the affected cells from making a normal amount of frataxin. Every person has two copies of the frataxin gene, one inherited from each parent. A person with one defective gene copy will not develop FRDA but is instead a "carrier" of the disease gene, who can then pass it on to his or her children. A person who inherits two defective frataxin genes will develop FRDA. The disorder is said to be "recessive" because it shows this pattern of inheritance. In a recessive disease, it's necessary for both parents to be carriers in order to have a child who has the disease. When both parents are FRDA carriers, they have a one-in-four chance in each pregnancy of conceiving a child who will develop the disease. The chances for each successive pregnancy aren't affected by the results of earlier ones. Boys and girls have equal chances of inheriting FRDA.

Is there a cure for Friedreich's ataxia?
At this point, there's no cure and no way known to slow the progression of the disease. MDA is currently funding a wide range of investigations to more fully understand the role of frataxin and its effects in cells. It's likely that this research will lead to the development of treatments that can partially make up for the loss of frataxin, and in this way slow down or even halt the degenerative process.

How is a person affected by Friedreich's ataxia as the disease progresses?
FRDA progresses at different rates in different people. This makes predicting the course of the disease in any particular person especially difficult. Even siblings with FRDA may progress at very different rates. For this reason, remember that the information presented here on the usual course of the disease only represents the average. Some people will have a very mild disease course, while others may be more severely affected. Loss of balance and coordination will usually require a person with FRDA to use mobility aids such as braces, a cane or a walker within a decade of the diagnosis. A wheelchair is often needed for mobility several years afterward. Progressive weakness of the lower limbs can compound the problems caused by loss of coordination. Some people with FRDA develop extremely high arches ("pes cavus") and other foot deformities as a result of uneven muscle weakening. Without regular stretching, the involved muscles may become permanently shortened (a condition called "contracture"), which can be painful. Muscle stiffness, spasms and cramps may also cause pain. These problems are addressed by a physiatrist or physical therapist, who can offer advice on choosing the right mobility aids and develop a physical therapy program to minimize contractures and maintain strength. Regular stretching and exercise are usually an important part of the program. Surgical correction of foot deformities and contractures is possible. Painful muscle tightening can usually be controlled with medication. Loss of coordination in the upper limbs occurs later in the disease and is more variable in its severity. It may interfere with activities of daily living, such as writing, eating and dressing. Some people with FRDA experience loss of muscle bulk (wasting), especially in the small muscles of the hands. Arm weakness is usually not a significant problem until late in the disease. An occupational therapist helps determine the appropriate devices and strategies to make the most of remaining abilities and to improve function in the activities of daily living. Curvature of the spine (scoliosis) occurs in some people with FRDA. Scoliosis can impair the ability to breathe fully, can be painful and may affect self-image. Mild scoliosis is sometimes treated with a brace fitted around the chest and abdomen. More severe scoliosis can be corrected by surgery.