论文部分内容阅读
目的探讨强直性肌营养不良症(DM)的临床、电生理学和病理学特点。方法回顾性分析12例DM的临床资料。结果 12例患者均为慢性起病,10例有家族遗传史(为两个家系),临床表现12例均有肌强直、肌萎缩和视力障碍,肌无力10例,秃顶8例,性功能障碍7例。肌电图均示肌源性损害和肌强直电位,神经传导速度基本正常。1例肌肉病理检查示肌纤维的核内移及肌纤维萎缩、脂肪增生。结论 DM的临床特点为肌强直、肌无力、肌萎缩以及合并多系统损害。电生理学与病理学检查出现肌源性损害,肌电图出现肌强直电位有重要临床意义。
Objective To investigate the clinical, electrophysiological and pathological features of myotonic dystrophy (DM). Methods Retrospective analysis of 12 cases of DM clinical data. Results All 12 patients had chronic onset, 10 had a family history of 2, and 12 had clinical manifestations of muscular rigidity, muscle atrophy and visual impairment, muscle weakness in 10, baldness in 8, sexual dysfunction 7 cases. Electromyography showed myogenic damage and myotonic potentials, nerve conduction velocity was normal. One case of muscle pathology showed muscle fiber nuclear shift and muscle fiber atrophy, fat hyperplasia. Conclusion The clinical features of DM are myotonia, muscle weakness, muscle atrophy and multiple system damage. Electrophysiology and pathological examination showed myogenic damage, EMG appears myotonic potential has important clinical significance.