Kosinski Christoph M, Schlangen Christiane, Gellerich Frank N, Gizatullina Zemfira, Deschauer Markus, Schiefer Johannes, Young Anne B, Landwehrmeyer Georg Bernhard, Toyka Klaus V, Sellhaus Bernd, Lindenberg Katrin S
Department of Neurology, University Hospital RWTH Aachen, Germany.
Mov Disord. 2007 Aug 15;22(11):1637-40. doi: 10.1002/mds.21550.
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.
一名有患亨廷顿舞蹈症（HD）风险（43个CAG重复序列）的半职业马拉松运动员，在首次检测到舞蹈症迹象的多年前，就出现了缓慢进展性肌病的症状，包括运动诱发的肌肉疲劳、疼痛、肌酸激酶水平升高以及跑步成绩恶化。肌肉活检显示为轻度肌病伴线粒体病理改变，包括复合体IV缺乏，对患者成纤维细胞培养物的分析表明线粒体功能存在缺陷。过度训练对骨骼肌造成挑战，可能在HD出现其他神经症状的数年之前就揭示了肌病。
