title: Myopathy as a first symptom of Huntington's disease in a Marathon runner.
abstract: A semi professional marathon runner at risk for Huntington's disease (HD) (43 CAG repeats) developed signs of a slowly progressive myopathy with exercise-induced muscle fatigue, pain, elevated creatine kinase level, and worsening of his running performance many years before first signs of chorea were detected. Muscle biopsy displayed a mild myopathy with mitochondrial pathology including a complex IV deficiency and analysis of the patient's fibroblast culture demonstrated deficits in mitochondrial function. Challenging skeletal muscle by excessive training might have disclosed myopathy in HD even years before the appearance of other neurological symptoms.
authors.affiliation: Department of Neurology, University Hospital RWTH Aachen, Germany. ckosinski@ukaachen.de
authors.forename: Christoph M
authors.initials: CM
authors.lastname: Kosinski
authors.forename: Christiane
authors.initials: C
authors.lastname: Schlangen
authors.forename: Frank N
authors.initials: FN
authors.lastname: Gellerich
authors.forename: Zemfira
authors.initials: Z
authors.lastname: Gizatullina
authors.forename: Markus
authors.initials: M
authors.lastname: Deschauer
authors.forename: Johannes
authors.initials: J
authors.lastname: Schiefer
authors.forename: Anne B
authors.initials: AB
authors.lastname: Young
authors.forename: Georg Bernhard
authors.initials: GB
authors.lastname: Landwehrmeyer
authors.forename: Klaus V
authors.initials: KV
authors.lastname: Toyka
authors.forename: Bernd
authors.initials: B
authors.lastname: Sellhaus
authors.forename: Katrin S
authors.initials: KS
authors.lastname: Lindenberg
mesh_terms: D000328:Adult; D018450:Disease Progression; D006801:Humans; D006816:Huntington Disease / Q000150:complications* / Q000235:genetics; D008297:Male; D008931:Mitochondria, Muscle / Q000473:pathology; D018482:Muscle, Skeletal / Q000473:pathology; D009135:Muscular Diseases / Q000209:etiology* / Q000235:genetics / Q000473:pathology; D009154:Mutation; D010101:Oxygen Consumption / Q000502:physiology; D017494:Proton Pumps / Q000235:genetics; D012420:Running
chemical_list: D017494:Proton Pumps