Myopathy as a first symptom of Huntington's disease in a Marathon runner.
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.
Kosinski
Christoph M
CM
Department of Neurology, University Hospital RWTH Aachen, Germany. ckosinski@ukaachen.de
Schlangen
Christiane
C
Gellerich
Frank N
FN
Gizatullina
Zemfira
Z
Deschauer
Markus
M
Schiefer
Johannes
J
Young
Anne B
AB
Landwehrmeyer
Georg Bernhard
GB
Toyka
Klaus V
KV
Sellhaus
Bernd
B
Lindenberg
Katrin S
KS
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
D017494:Proton Pumps