Seminars in pediatric neurology
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Mitochondrial disorders are important causes of progressive ataxia in children. Clinical examination, metabolic studies, imaging studies, muscle biopsies, and mitochondrial DNA studies are required to arrive at a specific diagnosis. There is poor correlation between phenotype and genotype in mitochondrial disorders. Ataxia is a major clinical presentation in Kearns-Sayre syndrome; mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes; myoclonic epilepsy with ragged-red fibers; neurogenic muscle weakness, ataxia, and retinitis pigmentosa; Leigh's syndrome; and coenzyme Q10 deficiency.