Symptoms of Friedreich's Ataxia

Friedreich's Ataxia is a rare, inherited disease that causes progressive damage to the nervous system. It is an autosomal recessive genetic disorder, which means you get a copy of the defective gene from both mother and father. It is named after German Neurologist Nikolaus Friedreich who first described the condition in 1863. Friedreich's Ataxia is also known as familial ataxia, Friedreich's disease, Friedreich's tabes, hereditary ataxia-Friedreich's type, spinal ataxia-hereditofamilial and spinocerebellar ataxia. Ataxia refers to coordination problems. It can be caused by multiple sclerosis, brain tumors and alcoholism. Ataxia is also caused by a genetic abnormality that leads to brain damage mostly in the area known as the cerebellum.

Friedreich's Ataxia is caused by an abnormality in one of the genes called X25. This gene is located in the ninth chromosome pair. This occurs when there is a lack of a protein called fataxin in the tissues. This lack of protein causes a degeneration of the nerve cells within the tissues of the spinal cord and its brain connections, the heart and the pancreas. This reduces the nerve signals to the muscles. Friedreich's Ataxia develops when a defective gene is inherited from both parents. This is called a recessive inheritance pattern. If only one parent passes a defective gene, the child becomes a "carrier", but never develops the disorder. Carriers appear normal and may never realize they are carriers until they pass it on to their children. One out of one hundred people are carriers.

Symptoms of Friedreich's Ataxia includes ataxia that gets worse with time, no reflexes in the legs, abnormal speech, loss of coordination and balance, decrease in ability to feel vibrations in the lower limbs, muscle weakness, changes in vision-particularly color vision, hearing loss, jerky eye movements and foot problems such as hammer toe and high arches. Muscle problems lead to changes in the spine and may cause scoliosis or kyphoscoliosis. Heart disease commonly develops and can lead to heart failure. Diabetes may also develop in the later stages.

The methods used to diagnose Friedreich's Ataxia include a medical history and physical examination and tests that include: An Electromyogram (EMG) that is used to measure the electrical activity of the muscle cells. Nerve Conduction Studies are done to measure the speed that nerves transmit impulses. An Electrocardiogram produces a graphic presentation of electrical activity or beat pattern of the heart. Magnetic Resonance Imaging (MRI) or Computed Tomography (CT) Scan provides a picture of the brain and spinal cord. A Spinal Tap evaluates cerebrospinal fluid. Blood and urine tests are done to check for elevated glucose levels. Genetic testing is used to identify the affected gene. There is currently no cure or treatment for Friedreich's Ataxia, but many of the symptoms can be treated to help patients function more normally for as long as possible. Diabetes and heart problems can be treated with medications and orthopedic problems can be treated with braces or surgery. Physical therapy may also be helpful.

Fifteen to twenty years after the onset of symptoms a person with Friedreich's Ataxia will be confined to a wheelchair. In the later stages the disease will completely incapacitate the person. Death usually occurs in early adulthood if severe heart disease is present. Heart disease is the most common cause of death in Friedreich's Ataxia patients. Those with less severe symptoms will live much longer.

Friedrich's Ataxia is the most common inherited ataxia and it affects 3,000 to 5,000 people in the United States. The prevalence seems to be higher in French Canadians from Quebec and Acadians from Louisiana. It is rarely found in people of African or Asian descent.