What is Friedreich’s Ataxia?*
- An inherited disease that causes progressive damage to the nervous system.
- Named after the physician Nicholaus Friedreich, who first described the condition in the 1860s.
- “Ataxia” refers to coordination problems such as clumsy or awkward movements and unsteadiness, occurs in many different diseases and conditions.
- The ataxia of Friedreich’s ataxia results from the degeneration of nerve tissue in the spinal cord and of nerves that control muscle movement in the arms and legs.
- Friedreich’s ataxia, although rare, is the most prevalent inherited ataxia, affecting about one in every 50,000 people in the United States. Males and females are affected equally.
*Retrieved From National Institute of Neurological Disorders and Stroke
What are the signs and symptoms?
- Symptoms usually begin between the ages of 5 and 15 but can occasionally appear as early as 18 months or as late as 50 years of age.
- The first symptom to appear is usually difficulty in walking, or gait ataxia.
- Foot deformities such as clubfoot, flexion (involuntary bending) of the toes, hammer toes, or foot inversion (turning inward) may be early signs.
- Gradual loss of sensation in the extremities, which may spread to other parts of the body.
- Dysarthria (slowness and slurring of speech) develops and the person is easily fatigued.
- Rapid, rhythmic, involuntary movements of the eye (nystagmus) are common.
- Most people with Friedreich’s ataxia develop scoliosis (a curving of the spine to one side), which, if severe, may impair breathing.
- Other symptoms that may occur include, chest pain, shortness of breath, and heart palpitations. These symptoms are the result of various forms of heart disease that often accompany Friedreich’s ataxia, such as cardiomyopathy (enlargement of the heart), myocardial fibrosis (formation of fiber-like material in the muscles of the heart), and cardiac failure. Heart rhythm abnormalities such as tachycardia (fast heart rate) and heart block (impaired conduction of cardiac impulses within the heart) are also common.
- About 20 percent of people with Friedreich’s ataxia develop carbohydrate intolerance and 10 percent develop diabetes mellitus. Some people lose hearing or eyesight.
- Generally, within 10 to 20 years after the appearance of the first symptoms the person is confined to a wheelchair, and in later stages of the disease individuals become completely incapacitated.
- The disease affects life expectancy and is often fatal in adulthood from the associated heart disease– the most common cause of death.
How is Friedreich’s Ataxia diagnosed?
By performing a careful clinical examination, which includes a medical history and a thorough physical examination. Doctors may use the following tests to reach a diagnosis: electromyogram (EMG), which measures the electrical activity of muscle cells, nerve conduction studies, which measure the speed with which nerves transmit impulses, electrocardiogram (EKG), which gives a graphic presentation of the electrical activity or beat pattern of the heart, echocardiogram, which records the position and motion of the heart muscle, magnetic resonance imaging (MRI) or computed tomography (CT) scan , which provides a picture of the brain and spinal cord, spinal tap to evaluate the cerebrospinal fluid, blood and urine tests to check for elevated glucose levels, and genetic testing to identify the affected gene.
How is Friedreich’s Ataxia inherited?
Friedreich’s ataxia is an autosomal recessive disease. A person who has only one abnormal copy of a gene for a recessive genetic disease, such as Friedreich’s ataxia, is called a carrier. A carrier will not develop the disease but can pass the affected gene on to his or her children.
If both parents are carriers of the Friedreich’s ataxia gene, their children will have a 1 in 4 chance of having the disease and a 1 in 2 chance of inheriting one abnormal gene that they, in turn, could pass on to their children.
About one in 90 Americans of European ancestry carries one affected gene. Friedreich’s ataxia is caused by a defect in a gene located on chromosome 9. Because of the inherited abnormal code, a particular sequence of bases (GAA) is repeated too many times.
Can Friedreich’s Ataxia be cured or treated?
There is currently no cure or effective treatment for Friedreich’s ataxia. However, many of the symptoms and accompanying complications can be treated to help patients maintain optimal functioning as long as possible. What services are useful to Friedreich’s ataxia patients and their families?
Genetic testing is available at some specialized laboratories and can assist with clinical diagnosis, prenatal diagnosis, and carrier status determination. Genetic counselors can help explain how people inherit Friedreich’s ataxia and its effect on the patient and the family. Psychological counseling and support groups for people with genetic diseases may also help patients and their families cope with the disease. A patient’s primary care physician can screen for complications like diabetes and scoliosis, and can refer patients to specialists such as cardiologists and physical therapists to help deal with some of the other associated problems.
Who is conducting research?
For more information on neurological disorders or research programs funded by the National Institute of Neurological Disorders and Stroke, contact the Institute’s Brain Resources and Information Network (BRAIN) at:
P.O. Box 5801
Bethesda, MD 20824
Other Useful Contacts
Friedreich’s Ataxia Research Alliance (FARA)
P.O. Box 1537
Springfield, VA 22151
Tel: (703) 426-1576
Fax: (703) 425-0643
4301 Connecticut Avenue, N.W.
Washington, DC 20008-2369
Tel: 202-966-5557 800 336-GENE (4363)
Muscular Dystrophy Association
3300 East Sunrise Drive
Tucson, AZ 85718-3208
Tel: 520-529-2000 800-572-1717
National Ataxia Foundation (NAF)
2600 Fernbrook Lane North
Minneapolis, MN 55447-4752
National Organization for Rare Disorders (NORD)
P.O. Box 1968
(55 Kenosia Avenue)
Danbury, CT 06813-1968
Tel: 203-744-0100 Voice Mail 800-999-NORD (6673)
National Society of Genetic Counselors
401 N. Michigan Avenue
Chicago, IL 60611
The National MAKE-A-WISH Foundation® of America
4742 N. 24th St., Suite 400
Phoenix, AZ 85016-4862
Tel: (602) 279-WISH (9474)
Toll-free: (800) 722-WISH (9474)
Fax: (602) 279-0855