AUTHOR=Ivanovic Vukan , Bjelica Bogdan , Palibrk Aleksa , Brankovic Marija , Bozovic Ivo , Basta Ivana , Savic Andrija , Stojanovic Vidosava Rakocevic , Kacar Aleksandra 

TITLE=Physical and Mental Aspects of Quality of Life in Patients With Charcot-Marie-Tooth Disease Type 1A

JOURNAL=Frontiers in Neurology

VOLUME=Volume 13 - 2022

YEAR=2022

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2022.852150

DOI=10.3389/fneur.2022.852150

ISSN=1664-2295

ABSTRACT=Introduction: Charcot-Marie-Tooth type 1A (CMT1A) comprises approximately 50% of all CMT cases. CMT1A is a slowly progressive motor and sensory neuropathy that leads to significant disability. We aimed to investigate quality of life (QoL) in Serbian patients with CMT1A and to assess sociodemographic and clinical features associated with their QoL.
Material and methods: Forty-five genetically- confirmed CMT1A patients were included - 60% females (age 50.4±12.6 years, disease duration 22 (12.5-31.5) years). SF-36, Medical Research Council (MRC) Sum Score, CMT Examinations Score (CMTES), Overall Neuropathy Limitation Scale (ONLS), Beck Depression Inventory (BDI), and Krupp’s Fatigue Severity Scale (FSS) were used in the study.
Results: Regarding SF-36, Mental Health and Social Functioning were the scales with the best achievements, while Role Physical was the worst domain. Worse QoL in CMT1A patients was associated with elder age (rho=-0.34, p<0.05), longer disease duration (rho=-0.31, p<0.05), more pronounced muscle weakness measured by MRC-SS score (rho=0.43, p<0.01), presence of tremor (p<0.05), worse CMTES score (rho=-0.68, p<0.01), more severe disability in upper (rho=-0.70, p<0.01) and lower limbs (rho=-0.61, p<0.01) measured by ONLS scores, use of walking aids (p<0.01), as well as with depression (p<0.01) and fatigue (p<0.01). Worse scores on CMTES (beta=-0.43, p<0.01), BDI (beta=-0.39, p<0.01) and FSS (beta=-0.36, p<0.01) were significant independent predictors of worse QoL in CMT1A patients (adjusted R2=0.77, p<0.001).
Conclusion: 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. 

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