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  Oct 18, 2018

Friedreich's Ataxia Symptoms

Friedreich’s ataxia is a hereditary disorder that leads to progressive and irreversible damage to the nervous system.

Initial symptoms include difficulty with speech, balance and coordination but the condition can eventually cause severe immobility, cardiac problems and diabetes. Friedreich’s ataxia is the most common form of inheritable ataxia and affects around 1 in 50,000 people in the United States. There is no gender difference in the prevalence of this neurodegenerative disorder.

The disease is named after Nicholaus Friedreich who first described the condition in 1863.

Symptoms of Friedreich’s ataxia

The symptoms of Friedreich’s ataxia usually begin between 5 and 25 years of age, although they can appear in children younger than 5 or when adults are in their 30s or 40s. Initial symptoms often include disturbances in balance, limb coordination and speech, problems that gradually worsen as the disease progresses.Other symptoms that often develop include high foot arches and curvature of the spine, which can cause an impaired sense of body position (proprioception) and eventually lead to weakness in the limbs.

Cardiac complications such as enlarged heart, arrhythmia and cardiomyopathy are other common symptoms and range in severity from mild to serious. There is also an increased risk of developing diabetes.

As the disease advances to a later stage, around 10% of sufferers start to develop hearing loss and a similar proportion develop visual disturbances. Incontinence is another common complication of the condition that eventually affects around half of sufferers.

The average age of death among people with Friedreich’s ataxia is 35 years and the cause of death is usually cardiomyopathy. Women have a more positive outcome than men, with a 20-year survival rate of 100% compared with only 65% in males.