Explaining Friedreich’s Ataxia

Friedreich’s ataxia (FA) is a genetic and progressive neuromuscular disease that attacks the body’s nerves and muscles. Usually occurring in childhood, symptoms of FA typically appear between the ages of 5 and 18. Fewer than 25 percent of individuals affected by FA develop the disease in adulthood, according to the Friedreich’s Ataxia Research Alliance (FARA). 

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The cause of the disease is a genetic mutation of the FXN gene which is responsible for producing a protein called frataxin. Frataxin is vital for healthy muscles and nerves. People who have FA do not produce enough frataxin, leading to the degeneration of neurons.

Friedreich’s ataxia is an autosomal recessive disease which means that both parents need to carry the mutated gene and their children will have a one in four chance of inheriting the condition.

According to FARA, approximately one in 50,000 people are living with FA in the U.S.

Some of the main symptoms of the disease include loss of coordination, fatigue, hearing loss, slurred speech, vision problems, curvature of the spine, diabetes mellitus and serious heart conditions, although not all patients will experience all of these symptoms. 

As the disease progresses, most patients will need mobility aids in either their late teens or early 20s, with most eventually needing a wheelchair. However, patients do not suffer any cognitive impairment. Many patients will succumb to complications of the disease.

There is currently no cure for FA. Patients’ symptoms are managed to help improve quality of life and comfort. Genetic testing is the only way to confirm a diagnosis of the disease. You can find out more about Friedreich’s ataxia here.

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Friedreich’s Ataxia News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.