Ivanovic Vukan, Bjelica Bogdan, Palibrk Aleksa, Brankovic Marija, Bozovic Ivo, Basta Ivana, Savic Andrija, Stojanovic Vidosava Rakocevic, Kacar Aleksandra
Department of Neurology Clinic, Faculty of Medicine, University Clinical Center of Serbia, University of Belgrade, Belgrade, Serbia.
Department of Neurology, Hanover Medical School, Hanover, Germany.
Front Neurol. 2022 Mar 16;13:852150. doi: 10.3389/fneur.2022.852150. eCollection 2022.
Charcot-Marie-Tooth type 1A (CMT1A) comprises ~50% of all CMT cases. CMT1A is a slowly progressive motor and sensory neuropathy that leads to significant disability. We aimed to investigate the quality of life (QoL) in Serbian patients with CMT1A and to assess sociodemographic and clinical features associated with their QoL.
Forty-five genetically confirmed patients with CMT1A were included -60% women [age 50.4 ± 12.6 years, disease duration 22 (12.5-31.5) years]. SF-36, Medical Research Council (MRC) Sum Score, CMT Examination Score (CMTES), Overall Neuropathy Limitation Scale (ONLS), Beck Depression Inventory (BDI), and Krupp's Fatigue Severity Scale (FSS) were used in the study.
Regarding SF-36, Mental Health and Social Functioning were the scales with the best achievements, whereas Role Physical was the worst domain. Worse QoL in patients with CMT1A was associated with elder age (rho = -0.34, < 0.05), longer disease duration (rho = -0.31, < 0.05), more pronounced muscle weakness measured by MRC-SS (rho = 0.43, < 0.01), presence of tremor ( < 0.05), worse CMTES (rho = -0.68, < 0.01), more severe disability in upper (rho = -0.70, < 0.01) and lower limbs (rho = -0.61, < 0.01) measured by ONLS scores, use of walking aids ( < 0.01), and with depression ( < 0.01) and fatigue ( < 0.01). Worse scores on CMTES (beta = -0.43, < 0.01), BDI (beta = -0.39, < 0.01), and FSS (beta = -0.36, < 0.01) were significant independent predictors of worse QoL in patients with CMT1A (adjusted = 0.77, < 0.001).
Besides impairment made directly by CMT1A itself, QoL in these patients was also strongly affected by the presence of depression and fatigue. Since CMT1A is still not a curable disease, it is of interest to identify factors associated with QoL that are amenable to treatment.
1A型遗传性运动感觉神经病（CMT1A）约占所有CMT病例的50%。CMT1A是一种缓慢进展的运动和感觉神经病变，会导致严重残疾。我们旨在调查塞尔维亚CMT1A患者的生活质量（QoL），并评估与其QoL相关的社会人口统计学和临床特征。
纳入45例经基因确诊的CMT1A患者，其中60%为女性[年龄50.4±12.6岁，病程22（12.5 - 31.5）年]。本研究使用了SF - 36健康调查量表、医学研究委员会（MRC）总分、CMT检查评分（CMTES）、整体神经病变限制量表（ONLS）、贝克抑郁量表（BDI）和克虏伯疲劳严重程度量表（FSS）。
关于SF - 36，心理健康和社会功能方面得分最佳，而躯体功能方面最差。CMT1A患者较差的QoL与年龄较大（rho = -0.34，P < 0.05）、病程较长（rho = -0.31，P < 0.05）、MRC - SS测量的肌肉无力更明显（rho = 0.43，P < 0.01）、存在震颤（P < 0.05）、CMTES较差（rho = -0.68，P < 0.01）、ONLS评分测量的上肢（rho = -0.70，P < 0.01）和下肢（rho = -0.61，P < 0.01）残疾更严重、使用助行器（P < 0.01）以及抑郁（P < 0.01）和疲劳（P < 0.01）有关。CMTES得分较差（beta = -0.43，P < 0.01）、BDI得分较差（beta = -0.39，P < 0.01）和FSS得分较差（beta = -0.36，P < 0.01）是CMT1A患者QoL较差的显著独立预测因素（调整后R² = 0.77，P < 0.001）。
除了CMT1A本身直接造成的损害外，这些患者的QoL还受到抑郁和疲劳的强烈影响。由于CMT1A仍然无法治愈，确定与QoL相关且可治疗的因素具有重要意义。
