✦ LIBER ✦

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

✍ Scribed by Christoph M. Kosinski; Christiane Schlangen; Frank N. Gellerich; Zemfira Gizatullina; Markus Deschauer; Johannes Schiefer; Anne B. Young; Georg Bernhard Landwehrmeyer; Klaus V. Toyka; Bernd Sellhaus; Katrin S. Lindenberg

Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 172 KB
Volume: 22
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.21550

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✦ Synopsis

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. © 2007 Movement Disorder Society

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