Supplementary Material for: Evaluation of Respiratory Muscle Strength and Pulmonary Function in Patients with Charcot-Marie-Tooth Disease Type 2

The aim of this study was to evaluate the pulmonary condition in a large family with Charcot-Marie-Tooth disease type 2 (CMT2). Eighteen participants diagnosed with CMT2 and 20 healthy individuals were evaluated by spirometry and maximal expiratory and maximal inspiratory pressures (MEP and MIP, respectively). Clinical disability was measured with CMT neuropathy score (CMTNS; range 0-36). One control group (CG) comprising 20 individuals, matched for age, sex and body mass index, were used for comparison. Eight patients were female (44.5%) and 10 patients were male (55.5%); mean age was 31.8 years (range 11-79) and CMTNS range was 6-26. Differences between CMT2 and CG in the spirometry and respiratory muscle strength were statistically significant for all dimensions. There were significant correlations between CMTNS and MIP (Pearson = -0.581) and MEP (Pearson = -0.5090). The results of this study show that patients with CMT, in spite of not showing clinical signs of advanced respiratory impairment, may present subclinical respiratory changes. The respiratory comprise in the CMT disease can be silent and insidious without presenting characteristic clinical signals.

本研究旨在评估一个大型2型腓骨肌萎缩症（Charcot-Marie-Tooth disease type 2, CMT2）家系的肺部状况。本研究纳入18例确诊CMT2的受试者与20名健康个体，采用肺量测定法、最大呼气压力（maximal expiratory pressure, MEP）与最大吸气压力（maximal inspiratory pressure, MIP）对所有受试者进行评估。采用CMT神经病评分（CMTNS，评分范围0~36）评估临床残疾程度。设置20名年龄、性别与体质量指数相匹配的个体作为对照组（control group, CG）用于对照分析。受试患者中女性8例（占比44.5%），男性10例（占比55.5%）；平均年龄为31.8岁（年龄区间11~79岁），CMTNS评分区间为6~26。肺量测定指标与呼吸肌肌力相关指标在CMT2组与对照组的所有维度上均存在统计学显著性差异。CMTNS与MIP（皮尔逊相关系数r=-0.581）、MEP（皮尔逊相关系数r=-0.509）均存在显著相关性。本研究结果表明，尽管CMT患者未表现出晚期呼吸功能损害的临床体征，但可能已存在亚临床呼吸功能改变。CMT疾病相关的呼吸损害可呈隐匿性进展，无特征性临床症状。