Epidemiological characteristics of hereditary motor and sensory neuropathy in the Sumy region





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

Author Biographies

Iryna Govbakh, Educational and Scientific Institute of Post-Graduate Education оf Kharkiv National Medical University

PhD, Associate Professor

Department of General Practice – Family Medicine

Tamara Mishchenko, V. N. Karazin Kharkiv National University

Doctor of Medical Sciences, Professor

Department of Neurology, Psychiatry, Narcology


  1. 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
  2. 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
  3. Nagappa, M., Sharma, S., Taly, A. B. (2021). Charcot Marie Tooth. StatPearls. StatPearls Publishing.
  4. 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
  5. 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
  6. 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
  7. 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
  8. Lash, T. L., VanderWeele, T. J., Haneuse, S., Rothman, K. J. (2021). Modern Epidemiology. Wolters Kluwer.
  9. 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
  10. 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
  11. 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

Govbakh, I., & Mishchenko, T. (2023). Epidemiological characteristics of hereditary motor and sensory neuropathy in the Sumy region. ScienceRise: Medical Science, (3(54), 8–12. https://doi.org/10.15587/2519-4798.2023.285176



Medical Science