Friedreich’s Ataxia (FA) is an inherited disorder that causes degeneration of the
neuromuscular system. FA is a debilitating and life shortening disorder, and it affects
about one in every 50,000 people in the United States. FA causes many signs and
symptoms, but it does not affect the cognitive function of the patients. The onset of
these symptoms usually occurs between the ages of 5 and 18 years. Although, adult or
late onset FA is rare, it is the case for less than 25% of diagnosed patients. The
Friedreich’s Ataxia Research Alliance (FARA) is a large non-profit organization that is
funding research that will result in treatments to eliminate the symptoms of FA, this will
greatly improve the quality and length of life for the diagnosed individuals. Click here to visit FARAs website and learn more information about FA.

The Signs & Symptoms of Friedreich's Ataxia are:

  • 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)
  • serious heart conditions, including  hypertrophic cardiomyopathy and arrthymias

Positive FA genetic test results usually contain two numbers that indicate presence of the disease. What do these numbers mean? Our genetic code is spelled out along the double helix of our DNA by triplet combinations of four nucleotides labeled A, T, C, and G. At the key place in the Friedreich’s Ataxia gene of a person not affected with the disease, only a dozen or so triplet combinations of the nucleotides GAA would be found.

There is currently no treatment for FA but new treatments are now emerging. At this
time the patients are being monitored by their doctors, managing their symptoms, and learning how to live with them. The treatments that are underway are addressing the
causes of FA, such as the gene mutation that causes them, the loss of frataxin proteins,
the formation of iron sulfur clusters, and the function of the mitochondria.

FA is an inherited or single gene disorder. Mutations or DNA changes in the FXN gene cause FA. FA in inherited in an autosomal recessive manner, meaning that individuals with FA have two mutated or abnormal copies of the FXN gene, this means both biological parents must be a carrier of the disease for a child to be affected. It is estimated that 1 in 100 people are carriers, and carriers do not exhibit symptoms of FA.

A clinical study involves research using human volunteers (also called participants) that is intended to add to medical knowledge. There are two main types of clinical studies: clinical trials (also called interventional studies) and observational studies. ClinicalTrials.gov includes both interventional and observational studies. For more info visit: ClinicalTrials.gov

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