What is Friedreich’s Ataxia?
Friedreich’s ataxia (FA) is a debilitating, life-shortening, degenerative neuro-muscular 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. Late Onset FA (LOFA) can occur anytime during adulthood. FARA is supporting research that will improve the quality and length of life for those diagnosed with Friedreich’s ataxia and will lead to treatments that eliminate its symptoms.
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.
Inheriting Friedreich’s Ataxia
Friedreich’s ataxia is inherited recessively; that is, a person develops the disorder only when he or she inherits genes from both parents. About 1 in 90 people of European ancestry carry the FRDA gene and most of them do not know it. There is a higher incidence of FRDA in the French / Acadian population of south Louisiana. In 1996, an international group of scientists — with cooperation and support from patients, patient families, and their physicians — identified the gene, cloned it, and decoded its sequence. The gene (called X25) was found on the 9th chromosome and carries the instructions for making a protein that was not previously known. The protein was named after the disorder and is called frataxin.
There are currently no treatments for FA. Patients are monitored for symptom management. FARA is 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. Visit the research page to learn about research efforts or visit FARA’s pipeline page for a full listing of treatment initiatives.