代谢性肌病电生理学研究进展  

Research progress of electrophysiology for the diagnosis of metabolic myopathy

作　　者：赵蕾[1] 崔丽英[1] 

机构地区：[1]中国医学科学院北京协和医学院北京协和医院神经科,100730

出　　处：《中国现代神经疾病杂志》2014年第6期468-470,共3页Chinese Journal of Contemporary Neurology and Neurosurgery

摘　　要：代谢性肌病是以骨骼肌细胞能量代谢障碍为特征的一组肌肉病,主要包括糖和(或)糖原、脂肪、线粒体代谢障碍3种类型。不同代谢性肌病之间具有较大的异质性,明确诊断相对困难,需依靠发病年龄、家族史、临床表现、神经电生理学检查、血清酶学指标、肌肉组织活检和基因学分析综合判断。本文从神经电生理学角度对代谢性肌病常规肌电图表现,以及新兴神经电生理学检测技术和发展进行论述,以期提高广大神经科医师对代谢性肌病的认识水平。Metabolic myopathies comprise a group of diverse disorders characterized by defects of energy metabolism in skeletal muscle cells, including glycogen storage disease （GSD）, lipid storage myopathy （LSM） and mitochondrial myopathy. The diagnosis of metabolic myopathies is often challenging due to the clinical and etiological heterogeneity between different metabolic myopathies. Generally, the diagnosis of metabolic myopathies is mainly based on the age of onset, family history, clinical manifestation, electrophysiological examinations, serological screening of metabolic markers, muscle biopsy and the DNA testing for specific mutations. The classical electrophysiological diagnostic methods and the corresponding manifestation of metabolic myopathies were reviewed and some new diagnostic techniques, including new motor unit potential （MUP） parameters were introduced in this article.

关 键 词：糖原贮积病 脂质贮积病 线粒体肌病 肌电描记术 

分 类 号：R746[医药卫生—神经病学与精神病学]