Autosomal recessive cerebellar ataxia in children

In autosomal recessive cerebellar ataxias, Friedreich ataxia and ataxia telangiectasia are the more important diseases. The former focuses on the former. Friedreichs ataxia (FA) is an autosomal recessive disorder with clinical features characterized by the onset of childhood, progressive ataxia, cardiomyopathy, loss of deep sensation in the lower limbs, disappearance of tendon reflexes, and pyramidal tract signs. With skeletal deformity. It is known that the disease involves multiple systems, and the clinical manifestations are complex and diverse. With the cloning of the disease-causing gene and the GAA trinucleotide repeat expansion of the gene, a new understanding of the pathogenesis of the disease has been obtained.

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