腓骨肌萎缩症1型患儿肌电图和遗传学研究

目的：探讨腓骨肌萎缩症1型（CMT1）儿童的肌电图和遗传学特点。方法：对24例CMT1型患儿进行常规肌电图检测，同时联合应用PCR-双酶切分析检测17p11.2-12上的基因重复，对照组为10名健康儿童。结果：24例患儿运动或感觉神经传导速度存在不同程度的减慢或消失，且感觉神经病变重于运动神经，下肢受累程度重于上肢。所检24例患儿72块肌肉中，40块呈神经源性损害（56%）；患儿年龄越大，肌肉受累程度越严重。24例患儿中，PCR-双酶切法在13例患儿中检测出1760 bp片段，占54%。正常对照组未检测到此片段。结论：CMT1患儿肌电图改变特征明显，以周围神经传导速度减慢为主，肌肉病变多呈神经源性损害。PCR-双酶切可作为一种简单有效的CMT1型基因诊断方法。

Studies of electromyography and genetics in children with Charcot-Marie-Tooth disease type 1

Objective To study the electromyographic and genetic characteristics in children with Charcot-Marie-Tooth disease type 1(CMT1). Methods Routine electromyography and nerve conduction were performed in 24 children with CMT1.Polymerase chain reaction(PCR) combined with restriction enzyme digestion was used to detect gene duplication on chromosome 17p11.2-12.Ten healthy children served as the control group. Results The peripheral nerve conduction velocity slowed or disappeared in all of the 24 patients(100%).The lesions of the sensory nerves were more severe than the motor nerves,and the lesions of the lower limbs were more severe than the upper limbs.Of 72 muscles detected,40(56%) showed neurogenic lesions.The older the patients,the more severe the muscle lesions.Specific junction fragments(1760 bp) were identified in 13(54%) out of 24 patients,but were not identified in the healthy controls. Conclusions The electromyographic changes are characterized by peripheral nerve conduction velocities slowing and neurogenic lesions of muscles in children with CMT1.The PCR combined with restriction enzyme digestion may be a simple and accurate method for gene diagnosis of CMT1.