5 Major Symptoms of Friedreich’s Ataxia

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by Wendy Henderson |

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Friedreich’s ataxia (FA) is a rare genetic disorder where the body produces antibodies that limit the production of frataxin, a protein vital for nerve and muscle health. A lack of frataxin leads to muscle depletion and other symptoms. While the disease can develop at any time, it typically presents between the ages of 10 and 15. According to healthline.com and the Friedreich’s Ataxia Research Alliance, here are some of the most common symptoms associated with the disease.

MORE: Researchers identify two molecules that boost frataxin levels in Friedreich’s ataxia animal models. 

Difficulty walking
The legs can be affected in different ways by Friedreich’s ataxia, including muscle weakness, weak or lack of leg reflexes, poor coordination and balance, foot deformities, and not being able to sense vibrations in the lower limbs, which all make walking difficult. FA is a progressive disease so walking will become more labored over time with many requiring walking aids or a wheelchair by early adulthood.

Sensory changes
Friedreich’s ataxia is a neuromuscular disease so it can also attack the senses. Symptoms such as loss of hearing, involuntary eye movements, vision impairment, and speech problems may be experienced.

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Weakened core and leg muscles can lead to aggressive scoliosis or curvature of the spine in many patients.

Heart disease
Around three-quarters of people with Friedreich’s ataxia will develop some form of heart disease, usually hypertrophic cardiomyopathy which is when the heart muscle becomes thickened.

Diabetes mellitus 
It’s estimated that between 10 and 20 percent of people living with Friedreich’s ataxia go on to develop diabetes and will become insulin dependent.

MORE: Severity of genetic mutation in Friedreich’s ataxia linked in study of glucose tolerance

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.