Hereditary neuromuscular diseases in children of Belarus: Republican Register date

Authors

  • I.V. Zhаuniaronak Belarusian Medical Academy of Postgraduate Education, Minsk, the Republic of Belarus; Republican Scientific and Practical Center “Mother and Child”, Minsk, the Republic of Belarus
  • L.V. Shalkevich Belarusian Medical Academy of Postgraduate Education, Minsk, the Republic of Belarus
  • V.B. Smychek Republican Scientific and Practical Center for Medical Expertise and Rehabilitation, Minsk, the Republic of Belarus
  • T.N. Burd Ministry of Health of the Republic of Belarus, Minsk, the Republic of Belarus
  • A.N. Yakovlev Minsk City Center for Medical Rehabilitation of Children with Psychoneurological Diseases, Minsk, the Republic of Belarus
  • I.V. Naumchik Republican Scientific and Practical Center “Mother and Child”, Minsk, the Republic of Belarus
  • M.L. Vinichenko Republican Scientific and Practical Center “Mother and Child”, Minsk, the Republic of Belarus
  • O.L. Zobikova Republican Scientific and Practical Center “Mother and Child”, Minsk, the Republic of Belarus
  • S.O. Miasnikov Republican Scientific and Practical Center “Mother and Child”, Minsk, the Republic of Belarus

DOI:

https://doi.org/10.22141/2224-0713.17.4.2021.237598

Keywords:

neuromuscular diseases, prevalence, register, children

Abstract

Background. In many countries, problems of rare orphan diseases have recently been discussed, more specifically, hereditary neuromuscular diseases (HNMDs). As for 2020 data, there were about 400 million people worldwide suffering from different types of rare diseases which comprise over 7,000 nosologies. The data from official statistics in many countries do not provide detailed information on the prevalence of HNMDs; it is possible to obtain precise information on morbidity, mortality, analyses of genetic causes, social impact, etc. only in those countries that have registries of patients with HNMDs. Materials and methods. To evaluate the situation with HNMDs in the Republic of Belarus, the pediatric population was examined. The Republican Center for Hereditary Neuromuscular Diseases (RC HNMD) for children was founded, based on which there were formed a computer database and the registry of patients with hereditary neuromuscular diseases. The age of patients was 0 to 18 years old (including 17 years 11 months 29 days). The study was designed as a retrospective, entire, and comparative (by nosologies). Results. As of December 31, 2020, the HNMDs registry for children (0–17 years) demonstrated that the HNMDs prevalence was 2.34 cases per 10,000 age-matched population. The results showed that in type I spinal muscular atrophy the median time before diagnosis verification decreased almost 3-fold: before 2019 it was 7 months, while in 2019–2020, Me = 2.6 months; p < 0.001. Also, there is a significant reduction of the period for verification of the diagnosis of type II spinal muscular atrophy, i.e. from Me = 16 months (before 2019) to Me = 7.5 months (2019–2020), p < 0.05, which demonstrates the importance of establishing a centralized RC HNMD for children in Belarus and substantiates the necessity of developing its structure and cooperation with other community-based and government organizations. Conclusions. Within the structure of HNMDs nosologies, the top ones were taken by Duchenne-Becker muscular dystrophy — 0.8 per 10.000 age-matched population people spinal muscular atrophy — 0.5 per 10,000 of age-matched population, hereditary polyneuropathies — 0.4 by 10,000 of age-matched population. The study results show that the proportion of children born preterm (before 37 weeks of gestation) from the total amount of all children with registered HNMD accounts for 6.4 %, while the highest rate was found for spinal muscular atrophy, which gives the reason to study children born preterm from the standpoint of alertness due to HNMD. The register data in the Republic of Belarus demonstrate the highest specific weight of dystrophynopathies within the structure of HNMDs, which made 40.8 % (178/436) from the total number of HNMDs cases of Registry with the prevalence of 0.95 per 10,000 age-matched population (0–17 years) along with limb-girdle muscular dystrophies, facioscapulohumeral muscular dystrophies.

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References

RARE Facts. Global genes. Available from: https://globalgenes.org/rare-facts/. Accessed July 20, 2020.

Angelis A., Tordrup D., Kanavos P. Socio-economic burden of rare diseases: a systematic review of cost of illness evidence. Health Policy. 2015. 119 (7). 964-979.

Babac A., Damm K., Graf von der Schulenburg J.M. Patient-reported data informing early benefit assessment of rare di-seases in Germany: A systematic review. Health Econ. Rev. 2019. 9 (1). 34.

Badia X., Gil A., Poveda-Andrés J.L., Shepherd J., Tort M. Analysing criteria for price and reimbursement of orphan drugs in Spain. Farm. Hosp. 2019. 43 (4). 121-127.

National Legal Internet Portal of the Republic of Belarus. 19.05.2020. 2/2732.

Prevalence definition. https://www.medicinenet.com/prevalence/definition.htm

Campbell C., Levin S., Siu V.M., Venance S., Jacob P. Congenital myotonic dystrophy: Canadian population-based surveillance study. J. Pediatr. 2013. 163 (1). 120-5, e1-3.

Theadom A., Rodrigues M., Roxburgh R. et al. Prevalence of muscular dystrophies: A systematic literature review. Neuroepidemio-logy. 2014. 43 (3–4). 259-68.

D’Amico A., Mercuri E., Tiziano F.D., Bertini E. Spinal muscular atrophy. Orphanet J. Rare Dis. 2011. 6. 71.

Rodrigues M.J., O’Grady G.L., Hammond-Tooke G. et al. The New Zealand Neuromuscular Disease Patient Registry; Five Years and a Thousand Patients. J. Neuromuscul. Dis. 2017. 4 (3). 183-188.

Healthcare in the Republic of Belarus [Electronic edition]: official. stat. coll. for 2019 Minsk: GU RNPC MT, 2019. 257 p.

Evtushenko S.K., Morozova S.K., Shaimurzin M.R. Muscular hypotension syndrome in newborns and young children. News of Medicine and Pharmacy. 2011. 384. 50-63.

Cowen L., Mancini M., Martin A., Lucas A., Donovan J.M. Variability and trends in corticosteroid use by male United States participants with Duchenne muscular dystrophy in the Duchenne Registry. BMC Neurol. 2019. 19 (1). 84.

Verhaart I.E.C., Robertson A., Wilson I.J. et al. Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy — a literature review. Orphanet J. Rare Dis. 2017. 12 (1). 124.

Müller K.I., Ghelue M.V., Lund I., Jonsrud C., Arntzen K.A. The prevalence of hereditary neuromuscular disorders in Northern Norway. Brain Behav. 2021. 11 (1). e01948.

Osadchuk T.V., Rumyantseva N.V., Naumchik I.V., Likha-chev S.A., Pleshko I.V., Shalkevich L.V., Zhаuniaronak I.V., Kachan Yu.P. Molecular genetic diagnosis and clinical characteristic of hereditary neuropathy with predisposition to palsy due to compression. 2016. 116. 1. 64-69.

Zhаuniaronak I.V., Shalkevich L.V., Kuznetsova A.V. Clinical and genetic heterogeneity of congenital myopathies. Medical News. 2020. 1 (304). 20-22.

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Published

2021-11-19

How to Cite

Zhаuniaronak I., Shalkevich, L., Smychek, V., Burd, T., Yakovlev, A., Naumchik, I., Vinichenko, M., Zobikova, O., & Miasnikov, S. (2021). Hereditary neuromuscular diseases in children of Belarus: Republican Register date. INTERNATIONAL NEUROLOGICAL JOURNAL, 17(4), 20–25. https://doi.org/10.22141/2224-0713.17.4.2021.237598

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Section

Original Researches