Epidemiological characteristics of hereditary motor and sensory neuropathy in the Sumy region
Keywords:epidemiology, prevalence rate, population size, ethnic groups, hereditary motor sensory neuropathy, Sumy region
The aim of the study was to investigate the characteristics of the spread of hereditary motor and sensory neuropathy type 1A in the Sumy region, in terms of administrative units and specific ethnic groups of the population.
Materials and methods. An epidemiological study of hereditary motor and sensory neuropathy (HMSN) type 1A in the Sumy region was conducted based on patient referrals to various healthcare facilities from 2014 to 2017. The prevalence of HMSN in the Sumy region was studied using an epidemiological approach. The prevalence rate of HMSN was calculated for different administrative units of the Sumy region, as well as for specific ethnic groups of the population.
Results. The study registered 67 patients with hereditary motor and sensory neuropathy type 1A in the Sumy region. The prevalence rate of hereditary motor and sensory neuropathy type 1A in the Sumy region was 5.96 per 100,000 population. Of the HMSN patients, 47.8 % (32 individuals) resided in urban areas, while 52.2 % (35 individuals) lived in rural areas. In terms of gender distribution, 59.7 % (40 individuals) were female, and 40.3 % (27 individuals) were male. Most patients were of Ukrainian ethnicity (77.6 %), followed by Russians (20.9 %). Belarusians accounted for 1.5 % of HMSN patients in the Sumy region. Among other ethnic groups present in the Sumy region, HMSN type 1A was not detected.
Conclusions. Hereditary motor and sensory neuropathy type 1A is unevenly distributed in the Sumy region. The heterogeneous distribution of the disease is primarily attributed to the characteristics of settlement in specific geographic regions, which have led to the formation of territorial, national, and religious isolates with the accumulation of genetically heterogeneous types in these populations, resulting in an increased genetic burden
- Rudnik-Schöneborn, S., Auer-Grumbach, M., Senderek, J. (2020). Charcot-Marie-Tooth disease and hereditary motor neuropathies – Update 2020. Medizinische Genetik, 32 (3), 207–219. doi: https://doi.org/10.1515/medgen-2020-2038
- Holmberg, B. H., Holmgren, G., Nelis, E., van Broeckhoven, C., Westerberg, B. (1994). Charcot-Marie-Tooth disease in northern Sweden: pedigree analysis and the presence of the duplication in chromosome 17p11.2. Journal of Medical Genetics, 31 (6), 435–441. doi: https://doi.org/10.1136/jmg.31.6.435
- Nagappa, M., Sharma, S., Taly, A. B. (2021). Charcot Marie Tooth. StatPearls. StatPearls Publishing.
- Mladenovic, J., Milic Rasic, V., Keckarevic Markovic, M., Romac, S., Todorovic, S., Rakocevic Stojanovic, V. et al. (2011). Epidemiology of Charcot-Marie-Tooth Disease in the Population of Belgrade, Serbia. Neuroepidemiology, 36 (3), 177–182. doi: https://doi.org/10.1159/000327029
- Pipis, M., Rossor, A. M., Laura, M., Reilly, M. M. (2019). Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges. Nature Reviews Neurology, 15 (11), 644–656. doi: https://doi.org/10.1038/s41582-019-0254-5
- Dohrn, M. F., Saporta, M. (2020). Hereditary motor neuropathies. Current Opinion in Neurology, 33 (5), 568–574. doi: https://doi.org/10.1097/wco.0000000000000848
- Barreto, L. C. L. S., Oliveira, F. S., Nunes, P. S., de França Costa, I. M. P., Garcez, C. A., Goes, G. M. et al. (2016). Epidemiologic Study of Charcot-Marie-Tooth Disease: A Systematic Review. Neuroepidemiology, 46 (3), 157–165. doi: https://doi.org/10.1159/000443706
- Lash, T. L., VanderWeele, T. J., Haneuse, S., Rothman, K. J. (2021). Modern Epidemiology. Wolters Kluwer.
- Lehmann, H. C., Wunderlich, G., Fink, G. R., Sommer, C. (2020). Diagnosis of peripheral neuropathy. Neurological Research and Practice, 2 (1). doi: https://doi.org/10.1186/s42466-020-00064-2
- Chyselnist naiavnoho naselennia Ukrainy na 1 sichnia 2015 roku (2015). Derzhkomstat Ukrainy. Available at: https://ukrstat.gov.ua/druk/publicat/Arhiv_u/13/Arch_nnas_zb.htm
- Natsionalnyi sklad naselennia Ukrainy ta yoho movni oznaky za danymy Vseukrainskoho perepysu naselennia 2001 roku (2003). Derzhkomstat Ukrainy. Available at: http://2001.ukrcensus.gov.ua/publications/#p4
How to Cite
Copyright (c) 2023 Iryna Govbakh, Tamara Mishchenko
This work is licensed under a Creative Commons Attribution 4.0 International License.
Our journal abides by the Creative Commons CC BY copyright rights and permissions for open access journals.
Authors, who are published in this journal, agree to the following conditions:
1. The authors reserve the right to authorship of the work and pass the first publication right of this work to the journal under the terms of a Creative Commons CC BY, which allows others to freely distribute the published research with the obligatory reference to the authors of the original work and the first publication of the work in this journal.
2. The authors have the right to conclude separate supplement agreements that relate to non-exclusive work distribution in the form in which it has been published by the journal (for example, to upload the work to the online storage of the journal or publish it as part of a monograph), provided that the reference to the first publication of the work in this journal is included.