Definition: an autosomal recessive neurologic disorder consisting of progressive imbalance, dysarthria, scoliosis, pes cavus, proprioceptive sensory loss, and usually the absence of deep tendon reflexes. Onset typically is during the teenage years; caused by a mutation in the Friedreich ataxia gene on chromosome 9q. Major pathologic signs are found in the posterior columns, although the heart and pancreas are affected in a substantial number of patients. Two variants include late onset Friedreich ataxia and Friedreich ataxia with preserved deep tendon reflexes; both these variants are due to the same mutation.
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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.