title: Mitochondrial disorders and ataxia.
abstract: 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.
authors.affiliation: Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS 32916, USA.
authors.forename: V Venkataraman
authors.initials: VV
authors.lastname: Vedanarayanan
mesh_terms: D017668:Age of Onset; D002648:Child; D004247:DNA / Q000235:genetics; D018450:Disease Progression; D006801:Humans; D008279:Magnetic Resonance Imaging; D028361:Mitochondrial Diseases / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics / Q000473:pathology
chemical_list: D004247:DNA