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. 2022 Mar 16:13:852150.
doi: 10.3389/fneur.2022.852150. eCollection 2022.

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

Vukan Ivanovic  1 , Bogdan Bjelica  2 , Aleksa Palibrk  1 , Marija Brankovic  1 , Ivo Bozovic  1 , Ivana Basta  1 , Andrija Savic  3 , Vidosava Rakocevic Stojanovic  1 , Aleksandra Kacar  1
Affiliations

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

Vukan Ivanovic et al. Front Neurol. .

Abstract

Introduction: 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.

Material and methods: 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.

Results: 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, p < 0.05), longer disease duration (rho = -0.31, p < 0.05), more pronounced muscle weakness measured by MRC-SS (rho = 0.43, p < 0.01), presence of tremor (p < 0.05), worse CMTES (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), and 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 patients with CMT1A (adjusted R 2 = 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.

Keywords: Charcot-Marie-Tooth type 1A (CMT1A); depression; disability; fatigue; impairment; quality of life.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Results on the SF-36 questionnarie in Serbian CMT1A patients (n =45). PF, physical functioning; RP, physical role; BP, bodily pain; GH, general health; VT, vitality; SF, social functioning; RE, emotional role; MH, mental health; PCS, physical composite score; MCS, mental composite score.
See this image and copyright information in PMC

References

    1. Braathen GJ, Sand JC, Lobato A, Høyer H, Russell MB. Genetic epidemiology of Charcot-Marie-Tooth in the general population. Eur J Neurol. (2011) 18:39–48. 10.1111/j.1468-1331.2010.03037.x - DOI - PubMed
    1. Mladenovic J, Milic Rasic V, Keckarevic Markovic M, Romac S, Todorovic S, Rakocevic Stojanovic V, et al. . Epidemiology of Charcot-Marie Tooth disease in the population of Belgrade, Serbia. Neuroepidemiology. (2011) 36:177–82. 10.1159/000327029 - DOI - PubMed
    1. Lupski JR, De Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, et al. . DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell. (1991) 66:219–32. 10.1016/0092-8674(91)90613-4 - DOI - PubMed
    1. Patzkó Á, Shy ME. Update on Charcot-Marie-tooth disease. Curr Neurol Neurosci Rep. (2011) 11:78–88. 10.1007/s11910-010-0158-7 - DOI - PMC - PubMed
    1. Vinci P, Serrao M, Millul A, Deidda A, De Santis F, Capici S, et al. . Quality of life in patients with Charcot-Marie-Tooth disease. Neurology. (2005) 65:922–4. 10.1212/01.wnl.0000176062.44360.49 - DOI - PubMed

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