Friedreich ataxia (FA) is a genetic cause of ataxia. It usually begins slowly in childhood or teenage years, typically with clumsiness, falls, and difficulty pronouncing words, and these symptoms gradually worsen. Other problems include high arched feet, abnormal curvature of the spine, and abnormal thickening of the walls of the heart. The diagnosis may be suspected from history, physical examination, and brain imaging; genetic testing is confirmatory. There is no curative treatment for this disease, so management usually involves care to make a patient safe and comfortable.

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Friedreich Ataxia

  • Marcello Cherchi

摘要

Friedreich ataxia (FA) is a genetic cause of ataxia. It usually begins slowly in childhood or teenage years, typically with clumsiness, falls, and difficulty pronouncing words, and these symptoms gradually worsen. Other problems include high arched feet, abnormal curvature of the spine, and abnormal thickening of the walls of the heart. The diagnosis may be suspected from history, physical examination, and brain imaging; genetic testing is confirmatory. There is no curative treatment for this disease, so management usually involves care to make a patient safe and comfortable.