强直性肌营养不良8例临床、电生理及病理特点

目的:探讨强直性肌营养不良（DM）临床、电生理和病理特点。方法:回顾性分析8例DM患者临床、电生理和病理资料。结果:8例患者均有不同程度肌无力、肌强直或肌萎缩症状。部分患者伴脱发、智力障碍、月经不规律等骨骼肌外症状。3例无明确家族史。7例患者肌电图检查可见肌强直电位发放。肌活检光镜下可见肌纤维大小不等、核内移与肌膜核增多、核聚集现象及核链形成等，1例患者可见肌浆块。还原型辅酶Ⅰ四唑氮还原酶染色可见7例肌纤维萎缩，其中5例以Ⅰ型肌纤维萎缩为主。结论:肌电图及骨骼肌活检病理检查对该病诊断有重要价值，结合具体病例的起病形式、骨骼肌及多系统受累特点等有助于对DM进一步分型；应注意遗传早现现象所致的“无家族遗传史”假象。

The clinical,electrophysiological and pathological features of myotonic dystrophy in 8 patients

Objective: To explore the clinical,electrophysiological and pathological characteristics of myotonic dystrophy(DM).Methods: The clinical,electrophysiological and pathological data of 8 patients with DM were retrospectively analyzed.Results: The different degree of muscle weakness,myotonia or amyotrophy symptoms in 8 cases were found.The alopecia,intelligence disorder,menstrual disorder of no skeletal muscle symptoms were found in part of the patients.No family history in 3 cases and myotonic potential diagnosed by electromyogram examination in 7 cases were identified.Under the light microscopy,the unequal muscle fibers in size,nucleus moving inward,muscle membrane nuclear increasing,nucleus gathering and nuclear chain forming were found.The sarcoplasmic masses in 1 case and muscular dystrophy diagnosed by NADH-TR staining in 7 cases,which included that the major muscle fiber atrophy in 5 cases were type Ⅰ fiber,were identified.Conclusions: Electromyography and skeletal muscle biopsy have important value in diagnosing myotonic dystrophy.The illness onset,and skeletal muscle and multi-system involvement features can benefit for the DM typing.The illusion of "no family history of genetic" caused by genetic anticipation of myotonic dystrophy should be paid attention to.