Kirzinger Lukas, Khomenko Andrei, Schulte-Mattler Wilhelm, Backhaus Roland, Platen Sabine, Schalke Berthold
Department of Neurology, University of Regensburg, Regensburg, Germany.
Department of Neurology, University of Regensburg, Regensburg, Germany.
Pediatr Neurol. 2016 Dec;65:90-92. doi: 10.1016/j.pediatrneurol.2016.08.005. Epub 2016 Aug 20.
Adult and pediatric patients suffering from MuSK (muscle-specific kinase) -antibody positive myasthenia gravis exhibit similar features to individuals with acetylcholine receptor (AChR) antibodies, but they differ in several characteristics such as a predominant bulbar, respiratory and neck weakness, a generally worse disease severity and a tendency to develop muscle atrophy. Muscle atrophy is a rare phenomenon that is usually restricted to the facial muscles.
We describe a girl with MuSK-antibody positive myasthenia gravis who developed a myopathy with severe generalized muscular weakness, muscle atrophy, and myopathic changes on electromyography.
This is the first published example of a generalized myopathic syndrome in myasthenia gravis. We review the relevant literature and discuss the hypothesis of a mitochondrial myopathy as a pathogenic mechanism in MuSK-antibody positive myasthenia gravis.
患有肌肉特异性激酶（MuSK）抗体阳性重症肌无力的成人和儿童患者表现出与乙酰胆碱受体（AChR）抗体阳性个体相似的特征，但在几个方面存在差异，如主要表现为延髓、呼吸和颈部无力，疾病严重程度通常更差，且有发生肌肉萎缩的倾向。肌肉萎缩是一种罕见现象，通常局限于面部肌肉。
我们描述了一名患有MuSK抗体阳性重症肌无力的女孩，她出现了一种肌病，伴有严重的全身肌肉无力、肌肉萎缩以及肌电图显示的肌病性改变。
这是首次发表的重症肌无力患者出现全身性肌病综合征的病例。我们回顾了相关文献，并讨论了线粒体肌病作为MuSK抗体阳性重症肌无力致病机制的假说。
