Q: A couple of years ago I was told I missed your column on ataxia. My son suffers from Friedreich’s ataxia so I would be very interested in your comments.
A: Friedreich’s ataxia was named after a German physician Nicholaus Friedreich, who first described it in the 1860s. This is an autosomal recessive inherited gene disorder, implying it is passed on from both the mother and father. A person who has only one abnormal copy of the gene is referred to as a carrier who will not develop the disease but could pass it on to his or her offspring. If both parents are carriers, their children will have a one in four chance of having the disease and a one in two chance of inheriting one abnormal gene that they, in turn, could pass on.
Friedreich’s affects the spinal cord and nerves that are responsible for controlling movement in the arms and legs. Symptoms generally begin between the ages of five and 15, although they have been known to appear in adulthood and on rare occasions, as late as age 75. The condition is caused by a defect in a gene located on chromosome 9. Changes in the gene cause the body to produce too much of a part of DNA known as trinucleotide repeat (GAA). In a healthy individual, the body contains between 8 and 30 copies of GAA; however, individuals with Friedreich’s ataxia may have as many as 1,000 copies. The more copies a patient has, the earlier in life the condition begins and the faster it progresses.
Symptoms may include muscle weakness, difficulty ambulating, loss of coordination, an unsteady gait, involuntary eye movements and speech problems. Heart disease commonly develops, as do muscle problems that may cause scoliosis or kyphoscoliosis. About 20% of patients develop an intolerance to carbohydrates and 10% develop diabetes. Most individuals tire extremely easily and, as a result, require more rest. They also take longer to recover from colds, the flu, and other common illnesses. The rate of progression of the disorder varies from person to person.
Diagnosis may require genetic testing, nerve conduction studies, an electrocardiogram, and imaging studies of the head/chest/spine. Damage to the optic nerve may occur without symptoms and blood glucose testing may reveal glucose intolerance or diabetes.
Treatment includes counseling, speech and physical therapy, braces for foot problems and scoliosis. A wheel chair may be required 15 or 20 years following diagnosis as the condition progresses.
As with numerous degenerative diseases, there is currently no cure or effective treatment for Friedreich’s but fortunately, many symptoms can be treated to help the patient continue optimal functioning. Advances in research have progressed to the point where clinical trials of proposed treatments are occurring now and support groups are also available. For additional information, contact the Friedreich’s Ataxia Research Alliance at P. O. Box 1537, Springfield, VA 22151, telephone 703 426-1576 or log on to fara@CureFA.org. Good luck.
