Pediatric Ataxia: Focus on Chronic Disorders.

Lynch DR, McCormick A, Schadt K, Kichula E.; Semin Pediatr Neurol. 2018 Apr;25:54-64. doi: 10.1016/j.spen.2018.01.001.

FRDA is the most common ataxia, and its phenotype is readily recognized. In children of typical age, it is frequently possible to diagnose FRDA by examination and genetic testing without the need for adjunctive tests (MRI and EMG). Genetic confirmation is required for diagnosis. In addition, one must remember that all patients with FRDA identified have at least one expanded GAA repeat. Thus GAA repeat expansion testing should occur before sequencing for point mutations. (This is a common mistake in genetic testing). Currently, genetic panels and exome sequencing does not include the ability to test for repeats, so this testing must be requested separately.

Pediatric Ataxia: Focus on Chronic Disorders.