Liu X, Zhang R X, Liu L, Xie Y Z, Lin Z Q, Zhao Q, Cao W Q, Zhu X Y, Li X B
Department of Neurology, the Third Xiangya Hospital of Central South University, Changsha 410013, China.
Health Management Center, the Third Xiangya Hospital of Central South University, Changsha 410013, China.
Zhonghua Yi Xue Za Zhi. 2021 Jan 12;101(2):131-136. doi: 10.3760/cma.j.cn112137-20200415-01205.
To analyze the correlations among different common scales for evaluating the severity of the first-visit Charcot-Marie-Tooth disease (CMT), and explore the cross-sectional characteristics of neurological dysfunction in patients with four common genotypes (CMT1A, CMT1X, CMT2A and MPZ-related CMT) at their first visits. A total of 117 genetically confirmed CMT patients (aged ≥10 years) from the Department of Neurology of the Third Xiangya Hospital from 2009 to 2019 were included in the study, which consisted of 45 CMT1A, 41 CMT1X, 19 CMT2A, and 12 MPZ-related CMT patients. Clinical data of these patients at first visits were collected and neurological deficits were evaluated by Charcot-Marie-Tooth Neuropathy Score (CMTNS), Charcot-Marie-Tooth Examination Score (CMTES), Overall Neuropathy Limitation Scale (ONLS) and Functional Disability Scale (FDS). Spearman's correlation was performed to analyze the relationship between CMTNS, CMTES, ONLS and FDS. The age of onset, duration of disease, scores of CMTNS, CMTES, ONLS and FDS were compared among four genotypes. In the 117 CMT patients, the male to female ratio was 1.79/1, and the age of onset was (19±13) years. The duration of disease was 10(3, 15) years, and the scores of CMTNS, CMTES, ONLS and FDS were 11.4±6.2, 8.8±5.7, 2.7±1.4 and 2.6±1.3, respectively. There was a significant correlation between CMTES, ONLS, FDS and CMTNS in the overall CMT patients and four subtypes respectively (≥0.40, <0.05). CMTNS, CMTES and ONLS scores of four subtypes showed positive correlations with duration of disease (<0.05), but FDS scores of CMT1A, CMT1X and MPZ-related CMT patients exhibited no correlation with duration of disease (>0.05) at their first visits. The age of onset in CMT2A patients was younger than that of the patients with the other three genotypes (<0.05), furthermore, the scores of four scales in early-onset CMT2A patients were higher than those of adult-onset type CMT2A patients (CMTNS: =0.031, CMTES: =0.048, ONLS: =0.042, FDS: =0.047). In CMT1X patients, the males had higher scores than those of females for all four scales (CMTNS: =0.028, CMTES: =0.014, ONLS: =0.023, FDS: =0.002). CMTNS, CMTES and ONLS could be used in natural history studies and clinical trials according to the different clinical situations. In the four genotypes, CMT2A patients have younger age of onset, and the earlier the age of onset, the severer the dysfunction. Moreover, male CMT1X patients relatively have severer neurological dysfunction than female patients.
分析评估初诊夏科-马里-图斯病（CMT）严重程度的不同常用量表之间的相关性，并探讨四种常见基因型（CMT1A、CMT1X、CMT2A和MPZ相关CMT）患者初诊时神经功能障碍的横断面特征。本研究纳入了2009年至2019年来自中南大学湘雅三医院神经内科的117例基因确诊的CMT患者（年龄≥10岁），其中包括45例CMT1A患者、41例CMT1X患者、19例CMT2A患者和12例MPZ相关CMT患者。收集这些患者初诊时的临床资料，并通过夏科-马里-图斯神经病评分（CMTNS）、夏科-马里-图斯检查评分（CMTES）、总体神经病变限制量表（ONLS）和功能残疾量表（FDS）评估神经功能缺损情况。采用Spearman相关性分析CMTNS、CMTES、ONLS和FDS之间的关系。比较四种基因型患者的发病年龄、病程、CMTNS、CMTES、ONLS和FDS评分。在117例CMT患者中，男女比例为1.79/1，发病年龄为（19±13）岁。病程为10（3，15）年，CMTNS、CMTES、ONLS和FDS评分分别为11.4±6.2、8.8±5.7、2.7±1.4和2.6±1.3。在总体CMT患者和四个亚型中，CMTES、ONLS、FDS与CMTNS之间均存在显著相关性（≥0.40，<0.05）。四个亚型的CMTNS、CMTES和ONLS评分与病程呈正相关（<0.05），但CMT1A、CMT1X和MPZ相关CMT患者初诊时的FDS评分与病程无相关性（>0.05）。CMT2A患者的发病年龄比其他三种基因型患者小（<0.05），此外，早发型CMT2A患者的四个量表评分高于成人发病型CMT2A患者（CMTNS：=0.031，CMTES：=0.048，ONLS：=0.042，FDS：=0.047）。在CMT1X患者中，男性在所有四个量表上的评分均高于女性（CMTNS：=0.028，CMTES：=0.014，ONLS：=0.023，FDS：=0.002）。CMTNS、CMTES和ONLS可根据不同临床情况用于自然史研究和临床试验。在四种基因型中，CMT2A患者发病年龄较小，发病年龄越早，功能障碍越严重。此外，男性CMT1X患者的神经功能障碍相对比女性患者更严重。
