Friedreich's ataxia

Friedreich's ataxia

Friedreich's Ataxia is a movement disorder caused by a gene abnormality, leading to nerve cell damage in the spine which affects the part of the brain responsible for voluntary muscle movement in the body. Those affected must inherit a mutated gene from each of their parents.

Onset of the disorder is usually between the ages of 10 and 15 years and manifests as a lack of coordination leading to difficulty walking, unsteadiness when standing and frequent falling. Symptoms can progress to include impaired speech and swallowing, foot deformities, scoliosis, and diabetes. Cardiac disease, presenting initially as shortness of breath and/or chest pain, and cardiac arrhythmia are both associated with Friedreich's Ataxia.

Because the disorder can affect several organs and areas of the body, a multifaceted treatment plan may be required including medication, physical therapy, and walking aids, with surgery also being an option.

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