夏科-马里-图斯病1X型患者59例临床特征与神经电生理的相关性

Correlation between clinical and electrophysiological characteristics in 59 patients with Charcot-Marie-Tooth disease type 1X

目的 探讨夏科-马里-图斯病1X型（Charcot-Marie-Tooth disease type 1X,CMT1X）患者性别、发病年龄、病程和残疾进展与其神经电生理指标的相关性.方法 对已明确连接蛋白32（CX32）基因突变的59例CMT1X患者进行临床资料采集、功能障碍评分[采用腓骨肌萎缩症神经病变评分（CMTNS）、总体神经功能限制评分（ONLS）和功能残疾评分（FDS）]和周围神经电生理结果分析,采用简单回归分析对发病年龄、病程和残疾进展与神经电生理指标进行相关性分析.结果CMT1X男性患者临床症状较女性患者重,男性患者的正中神经运动神经传导速度[MNCV;（34.5±6.3）m/s]、感觉神经传导速度[SNCV; （36.2±5.5） m/s]和复合肌肉运动电位（CMAP）波幅[（2.7±1.9） mV]明显低于女性患者[（43.5±7.2）、（44.3±7.4） m/s,t=-5.002、-4.022,均P〈0.01;（4.2±2.9） mV,t=-2.177,P〈0.05],而感觉神经运动电位（SNAP）波幅与女性患者比较差异无统计学意义.男性（r=-0.451,P〈0.01）和女性（r=-0.427,P〈0.05）患者年龄与其正中神经CMAP波幅明显相关,而与男性和女性MNCV无关.男性患者的临床残疾进展与年龄、病程和CMAP波幅明显相关,与MNCV、SNCV、SNAP及发病年龄无相关性.男性和女性患者CMTNS评分分别以约0.29分/年（r=0.600,小P〈0.01）和0.18分/年（r=0.420,P〈0.05）的速度增长,并与FDS（r=0.901,P〈0.01）、ONLS（r=0.904,P〈0.01）评分有很好的相关性.结论 CMT1X患者临床残疾进展与年龄、病程和CMAP波幅明显相关.CMTNS适用于中国CMT1X患者临床残疾的长程动态评估与预测,并与FDS、ONLS有很好的相关性.

Objective To analyze the relationship between gender, age at onset, duration, disabilities progress and indexes of peripheral nerve electrophysiology in Charcot-Marie-Tooth disease type 1 X （CMTIX） patients. Methods To analyze 59 CMT1X patients of Chinese Han origin with detected connexin 32 （CX32） gene mutations using clinical and electrophysiological assessment, including the Charcot-Marie-Tooth Neuropathy Score （CMTNS）, Overall Neuropathy Limitation Scale （ONLS） and Functional Disability Scale（FDS）. Statistical method was used to analyze the relationship between gender, age at onset, duration, disabilities progress and indexes of peripheral nerve electrophysiology. Results The male CMT1X patients were more severely affected than female patients. Motor nerve conduction velocity （MNCV）, compound muscle action potential （CMAP） amplitude and sensory nerve conduction velocity （SNCV） of median nerve of male patients（（34.5 ±6.3）, （36.2 ±5.5） m/s, （2.7 ±1.9） mV） were lower than those of female patients （ （43.5 ± 7.2 ）, （44. 3 ± 7.4） m/s, t = - 5. 002, - 4. 022, both P 〈 0. 01 ; （4. 2 ± 2.9 ） mV, t = - 2. 177, P 〈 0. 05 ）, and sensory nerve action potential （SNAP） amplitude have no significant difference than female patients. Age of male （ r = - 0. 451, P 〈 0. 01 ） and female （r = -0. 427, P 〈 0. 05 ） patients in CMT1X were significantly related with their median nerve CMAP amplitude and have no correlation with MNCV, male and female respectively. The clinical disability progress was significantly related with age, disease duration and CMAP amplitude in male CMT1X patients, but was not related to MNCV, SNCV, SNAP and age at onset. The CMTNS of male and female patients increased with age of 0.29 points/year（r =0.600, P 〈0.01） and 0.18 points/year （r =0.420, P 〈0.05） respectively and were correlated with two scale, FDS （ r = 0. 901, P 〈 0. 01 ） and ONLS （ r = 0. 904, P 〈 0. 01 ）. Conclusions The clinical disability progress is significantly related with age, disease duration and CMAP amplitude. CMTNS is suitable to evaluate and forecast the clinical disabilities of CMT1X patients dynamically, and is significantly related with FDS and ONLS.