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Mov Disord. 2007 Aug 15;22(11):1637-40.

Myopathy as a first symptom of Huntington's disease in a Marathon runner.

Author information

1
Department of Neurology, University Hospital RWTH Aachen, Germany. ckosinski@ukaachen.de

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.

PMID:
17534945
DOI:
10.1002/mds.21550
[Indexed for MEDLINE]

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