肢带型肌营养不良家系的临床及电生理分析  

Clinical and electrophysiological analysis of limb-girdle muscular dystrophy： A geneological report

作　　者：陈月桂[1] 燕铁斌[1] 袁沃亮[2] 王景峰[2] 聂如琼[2] 陶恩祥[3] 刘英梅[2] 闵瑜[1] 颜海莲[2] 

机构地区：[1]中山大学附属第二医院康复医学科,广州510120 [2]中山大学附属第二医院心内科,广州510120 [3]中山大学附属第二医院神经内科,广州510120

出　　处：《中华物理医学与康复杂志》2008年第8期543-545,共3页Chinese Journal of Physical Medicine and Rehabilitation

摘　　要：目的分析肢带型肌营养不良（LGMD）家系的l临床与电生理特点。方法调查LGMD家系（35人）中的27人，14人接受神经电生理检查（10例无临床表现，4例有临床表现），包括肌电图（EMG）、运动神经传导速度（MCV）和感觉神经传导速度（SCV）：结果有临床表现的4例患者中，3例于青少年时期发病，临床症状典型，表现为四肢进行性无力，Gower征阳性，出现鸭步，肌萎缩主要分布于近端肌，无腓肠肌肥大等；1例患者临床症状不典型。4例患者神经电生理检查结果显示，MCV和SCV均正常，3例EMG呈神经源性损害，1例EMG呈混合性损害：结论同一家系中的LGMD患者，病程越长，临床表现越典型；神经电生理检查中，EMG以神经源性损害为主，而MCV和SCV正常。Objective To analyze the clinical and electrophysiological features of one geneology with limb- girdle muscular dystrophy （ LGMD）. Methods Twenty-seven members of one family with limb-girdle muscular dystrophy （LGMD） were investigated. Fourteen of them were examined with eleetromyography （EMG） and their mo- tor conduction velocities （MCV） and sensory conduction velocities （SCV） were measured. Among them, 10 had no clinical manifestations, while 4 demonstrated symptoms and signs of LGMD. Results Three of the 4 patients had suffered from LGMD when young. They demonstrated the typical clinical features, including the progressive muscle weakness in the upper and lower extremities, positive Gower signs, duck gait, muscle atrophy distributed to the proxi- mal extremity, and no gastrocnemius hypertrophy. One subject presented atypical characteristics. The MCVs and SCVs of the 4 patients were normal, but neuropathic manifestations were found in the EMGS of 3 of them, and mixed neuropathic and myopathic manifestations were found in the EMG of the other. Conclusion LGMD patients in the same family can vary in their clinical characteristics. The longer the duration, the more severe the clinical features. Electrophysiological examination can reveal normal MCV and SCV but abnormal elctromyography.

关 键 词：肢带型肌营养不良 临床表现 电生理分析 

分 类 号：R746[医药卫生—神经病学与精神病学]