Symptoms of Friedreich's ataxia

Overview

Friedreich’s ataxia (FA) is a genetic disease, caused by an expanded GAA trinucleotide repeat in the FXN gene, which affects the nervous system and muscles. Individuals with a higher number of GAA repeats in the FXN gene develop FA earlier and more severely than those with fewer repeats. Symptoms of Friedreich’s ataxia usually begin between ages 5 and 15. People with a low number of repeats (fewer than 300) tend to have a late-onset disease (after age 25). In rare cases, disease onset can be as late as age 75.

Although the rate of progression varies, patients with FA generally will need a wheelchair within 10 to 20 years after symptoms appear. In the later stages of the disease, they may become completely debilitated.

FA affects many organs, resulting in a wide range of symptoms.

Cardiomyopathy

Friedreich’s ataxia is caused by a deficiency of the frataxin protein. This can result in a condition called cardiac neuropathy, which involves damage to the nerves that innervate the heart and changes in cardiac muscle that lead to cardiomyopathy, or heart muscle disease. Around 75% of people with FA develop heart abnormalities.

FA is typically diagnosed between ages 10 and 18. At that time, patients’ heart muscle may have started to thicken but can still function fine. Heart function declines over time, however, and within 10-15 years, patients can develop severe heart failure.

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Dysarthria

Dysarthria is a collective name that refers to a group of movement disorders that affect the muscular control of speech, resulting in altered voice quality, speech clarity, and intelligibility. It can be caused by genetic ataxia, such as Friedreich’s ataxia.

Dysarthria in Friedreich’s ataxia reduces the quality of life of people as it affects their ability to communicate and to participate in society.

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Dysphagia

Dysphagia, or difficulty swallowing, is a common symptom of Friedreich’s ataxia. Swallowing becomes difficult as FA advances and there is more and more loss of coordination as well as weakness, spasticity, or shaking.

Swallowing impairment can occur in the mouth, the pharynx or cavity behind the nose and mouth, and the esophagus or food pipe.

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Diabetes

Diabetes, or abnormally high blood sugar levels, occurs in about 10% of Friedreich’s ataxia patients. It has been suggested that both insulin deficiency, caused by B-cell dysfunction and death, and insulin resistance, or an interplay between these two, contribute to blood sugar abnormalities in patients with FA.

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