Friedreich’s ataxia (FA) is a debilitating, life-shortening, degenerative neuromuscular disorder. About one in 50,000 people in the United States have Friedreich’s ataxia. Onset of symptoms can vary from childhood to adulthood. Childhood onset of FA is usually between the ages of 5 and 15 and tends to be associated with a more rapid progression.
Signs and Symptoms
- loss of coordination (ataxia) in the arms and legs
- fatigue, energy deprivation, and muscle loss
- vision impairment, hearing loss, and slurred speech
- aggressive scoliosis (curvature of the spine)
- diabetes mellitus (insulin-dependent, in most cases)
- a serious heart condition (enlarged heart—hypertrophic cardiomyopathy)
These symptoms are not present in all individuals with FA, for example diabetes occurs in about 10-20% of individuals with FA. The mental capabilities of people with Friedreich’s ataxia remain completely intact. The progressive loss of coordination and muscle strength leads to motor incapacitation and the full-time use of a wheelchair. Most young people diagnosed with FA require mobility aids such as a cane, walker, or wheelchair by their teens or early 20s.
FA is a genetic disorder. FA patients have gene mutations that limit the production of a protein called frataxin. Frataxin is known to be an important protein that functions in the mitochondria (the energy producing factories) of the cell. Frataxin helps to move iron and is involved with the formation of iron-sulfur clusters, which are necessary components in the function of the mitochondria and thus energy production. We also know that specific nerve cells (neurons) degenerate in people with FA, and this is directly manifested in the symptoms of the disease.
There are currently no treatments for FA. Patients are monitored for symptom management. Both FARA and NAF (see Resources) are funding research to find a cure. We believe the treatment era for FA is now! As a result of great advancements to understand the cause of the disease, new treatments are now emerging. These treatments address the causes of FA such as gene mutation, frataxin production, iron sulfur clusters, and mitochondrial function.
The Friedreich’s Ataxia Research Alliance (FARA) is a national, public, 501(c)(3), non-profit, tax-exempt organization dedicated to curing Friedreich’s ataxia (FA) through research. FARA grants and activities provide support for basic and translational FA research, pharmaceutical/ biotech drug development, clinical trials, and scientific conferences. FARA also serves as a catalyst, between the public and scientific community, to create worldwide exchanges of information that drive medical advances.
National Ataxia Foundation is dedicated to improving the lives of persons affected by ataxia through support, education, and research.
Courage Kenney Rehabilitation Institute
Courage Kenney is a Minnesota-based rehabilitation and resource center that advances the lives of children and adults experiencing barriers to health and independence. Courage Kenney is a nonprofit organization offering advanced technologies and innovation provided in part through the efforts of thousands of volunteers and donors.
Courage Kenney empowers people with disabilities to realize their full potential in every aspect of life.
ABOUT FRIEDREICH'S ATAXIA