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

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

doi:10.1002/mds.21550

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

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

Research output: Contribution to journal › Article › peer-review

82 Scopus citations

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.

Original language	English
Pages (from-to)	1637-1640
Number of pages	4
Journal	Movement Disorders
Volume	22
Issue number	11
DOIs	https://doi.org/10.1002/mds.21550
State	Published - 15 Aug 2007
Externally published	Yes

Keywords

Mitochondrial disease
Neurodegenerative disease
Oxidative stress

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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.",

keywords = "Mitochondrial disease, Neurodegenerative disease, Oxidative stress",

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AU - Kosinski, Christoph M.

AU - Schlangen, Christiane

AU - Gellerich, Frank N.

AU - Gizatullina, Zemfira

AU - Deschauer, Markus

AU - Schiefer, Johannes

AU - Young, Anne B.

AU - Landwehrmeyer, Georg Bernhard

AU - Toyka, Klaus V.

AU - Sellhaus, Bernd

AU - Lindenberg, Katrin S.

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AB - 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.

KW - Mitochondrial disease

KW - Neurodegenerative disease

KW - Oxidative stress

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

Abstract

Keywords

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