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Home > West Medicine > Internal Medicine > Neurology

Classroom classification

百科

Friedreich ataxia

神经内科

Common symptoms

不自主运动、传导阻滞、共济失调、感觉性共济失调步态、感觉障碍

The pathology of disease

Friedreich ataxia is autosomal recessive spinocerebellar ataxia; GAA repeat in frataxin; gait ataxia; scoliosis; hypertrophic cardiomyopathy; diabetes.

Symptoms

Progressive gait ataxia; dysarthria; nystagmus; areflexia; scoliosis; cardiomyopathy; diabetes

Causes

Frataxin gene GAA trinucleotide repeat expansion.

Treatment

Supportive; physical therapy; cardiac management; scoliosis surgery

Dept

Neurology / genetics.

Warm reminder: Health education reference only; seek care at regular hospital.

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