目的：探讨和研究腓骨肌萎缩症1型（Charcot‐Marie‐Tooth disease 1，CMT1）患者肌电图和 PMP22基因改变特点。方法对43例CM T1患者进行常规神经传导速度和肌电图检查，应用PCR双酶切方法对其中33例CM T1患者及15名健康志愿者（对照组）检测17p11.2‐12 PM P22基因重复序列（即1760 bp片段）。33例CM T1患者依有无17p11.2‐12 PM P22基因特异性片段分为 PM P22基因特异性片段阳性组与阴性组，比较两组患者神经传导改变有无差异。结果43例患者均行肌电图检测，均表现为运动或感觉神经传导速度存在明显减慢（100％），感觉神经病变重于运动神经，下肢受累程度重于上肢；所检129块肌肉中，88块（68.2％）呈神经源性损害。经 PM P22基因学检测的33例中20例（60.6％）检测出1760 bp片断，对照组均未检测到此片段。PM P22基因特异性片段阳性组感觉神经传导速度、运动神经传导速度及远端潜伏期与阴性组比较差异均无统计学意义（P＞0.05）。结论 CMT1患者肌电图改变具有其特异性，结合PCR‐双酶切法检测 PMP22特异性基因重复序列可提高诊断CM T1的准确性及敏感性。%Objective To study the electromyography and PM P22 gene features in patients with type 1 Charcot‐Marie‐Tooth (CMT ) disease . Methods Routine electromyography and nerve conduction were performed in 43 patients with CMT 1 .Polymerase chain reaction (PCR) combined with restriction enzyme digestion was used to detect PMP22 gene duplication on chromosome 17p11.2‐12 (1760 bp) in 33 CMT 1 patients and 15 healthy volunteers (the control group) .According to the presence or absence of 17 p11.2‐12 PMP22 gene segments ,33 CMT 1 patients were divided into the positive group and the negative group . Parameters of nerve conduction were compared between two groups .Results All of the patients had the nerve conduction velocities slower or disappeared (43/43 , 100% ) .Sensory nerves and motor nerves were probably damaged at the same time ,but the damages of the sensory nerves were more severe than those of the motor nerves ,the damages of the lower limbs were more severe than those of the upper .Of 129 muscles tested ,88 (68.2% ) showed neurogenic damages .60.6% (20/33) of the patients were identified to have specific junction fragments (1760 bp) .Duplication was not identified in the controls . There were no statistically significant difference of the parameters ,such as sensory nerve velocity ,motor nerve conduction velocity and distal latency between two groups (P> 0.05) .Conclusions Electromyography has its specificity in CMT 1 patients ,in combination with double enzyme digestion method by PCR to detect PM P22 repetitive sequence specific genes can increase the accuracy and sensitivity in the diagnosis of CM T 1 .
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