FA is...

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Knowledge is power—learn all you can about Friedreich ataxia (FA)

FA is a rare, life-shortening genetic condition that progressively damages the nervous system and causes loss of muscle control over time. Get more details about FA as you start your journey.

Portrait of a young man with Friedreich ataxia and his dog.
Portrait of a young man with Friedreich ataxia and his dog.
Portrait of a young man with Friedreich ataxia and his dog.

Friedreich ataxia is caused by a mutation in the frataxin (FXN) gene 

The mutation of the FXN gene that causes FA is called a GAA triplet-repeat expansion. Usually, the GAA triplet repeats 33 or fewer times. In people with FA, the GAA triplet repeats hundreds or sometimes more than a thousand times.

The size of the repeat expansion is closely linked to how old you are when symptoms start and how quickly FA might progress. Larger GAA triplet-repeat expansions are associated with earlier onset and more rapid progression. Smaller GAA triplet-repeat expansions are associated with later onset and slower progression.

Learn more about how the FXN mutation is passed on

Every person is made up of DNA, which provides instructions for all the cells in your body. Genes are formed from certain patterns, or sequences, within the DNA. These genes control everything from the color of your eyes to the shape of your toes to how your body functions. 

Genes usually come in pairs: You inherit one gene from your mother and one gene from your father, and they come together to make you who you are. For a person to develop FA, each parent must have at least one mutated FXN gene and each parent must pass along that mutated gene.

This is called an autosomal recessive inheritance pattern. With autosomal recessive diseases, there is a 1 in 4 chance that both parents will pass the mutated gene on to their child. 

Learn more about how the ´FXN mutation is passed on
Learn more about how the ´FXN mutation is passed on
Learn more about how the ´FXN mutation is passed on

The FXN mutation causes a waterfall of effects that lead to the symptoms of FA 

1. The FXN mutation results in reduced production of a protein called frataxin.
2. Frataxin deficiency can lead to too much iron in the mitochondria, reduced energy production, and oxidative stress.
3. A protein called Nrf2 has also been shown to be deficient in FA.
4. When Nrf2 doesn’t work properly, it may contribute to the worsening effects of oxidative stress inside cells such as nerve cells.
5. Eventually, too much iron and oxidative stress can cause nerve cells to die and may lead to symptoms like loss of muscle control.
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Portrait of a woman with Friedreich ataxia sitting.
Portrait of a woman with Friedreich ataxia sitting.
Portrait of a woman with Friedreich ataxia sitting.

A genetic test can confirm a diagnosis of FA 

Genetic testing can help patients—and their families—better understand the disease so they can make informed decisions about life choices. Before taking a genetic test, patients and their family members should consider meeting with a genetic counselor who can help them understand the implications of genetic testing. 

Talk with your doctor about the genetic testing options that may be available to you.