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EPIDEMIOLOGICAL CHARACTERISTICS OF HEREDITARY MOTOR AND SENSORY NEUROPATHY IN THE KHARKOV REGION

Journal: Art of Medicine (Vol.5, No. 3)

Publication Date:

Authors : ;

Page : 15-20

Keywords : epidemiology; prevalence; hereditary motor sensory neuropathy;

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Abstract

Hereditary motor and sensory neuropathies are one of the most common diseases among monogenic hereditary diseases of the nervous system. Hereditary motor and sensory neuropathies are the group of clinically and genetically heterogeneous diseases characterized by peripheral nerve damage. Hereditary motor and sensory neuropathies have little effect on life expectancy, and this leads to their significant accumulation in individual families and in populations as a whole. The most common form of this disorder is hereditary motor and sensory neuropathy with an autosomal dominant type of inheritance - type 1A, caused by a mutation in the gene of peripheral myelin protein 22 (PMP22) on chromosome 17p11.2-12. According to various researches, the frequency of all hereditary motor and sensory neuropathies in the general population is 1:2500. The prevalence of hereditary motor and sensory neuropathies in different populations varies widely, therefore, the most appropriate at the initial stage of the genetic-epidemiological study of hereditary motor and sensory neuropathies is to determine the population frequency of this mutation in a specific region. The research of the territorial and ethnic distribution of hereditary motor and sensory neuropathies in the Kharkiv region was not carried out. That is why the aim of the research was to study and analyze the prevalence rates of hereditary motor and sensory neuropathies in the Kharkiv region in the context of administrative and territorial units and individual ethnic groups of the population. The epidemiological study of hereditary motor and sensory neuropathies in the Kharkiv region was carried out in the period from 2015 to 2020. The diagnosis of hereditary motor and sensory neuropathy was established in accordance with the recommendations of the WHO Research Group on neuromuscular diseases on the basis of diagnostic criteria.The prevalence rate of hereditary motor and sensory neuropathy was calculated both for various administrative and territorial units of the Kharkiv region and for individual ethnic groups of the population and expressed as the number of cases per 100,000 people. The results of the research showed that the prevalence rate of all forms of hereditary motor and sensory neuropathies in the Kharkiv region is 5.56 per 100,000 population and this indicator is unevenly distributed. The reason for the uneven distribution of hereditary motor and sensory neuropathies in the Kharkiv region may be the "effect of small samples" due to differences in population size both in individual administrative regions and in some ethnic groups of the population. In the Kharkiv region, the part of registered patients with hereditary motor and sensory neuropathies among the urban population (55.3%) is higher than among residents of country areas (44.7%). The heterogeneity of the prevalence rate of hereditary motor and sensory neuropathies in various ethnic groups of the Kharkiv region is due to the non-representativeness of these groups to the corresponding ethnic populations and such indicators cannot be transferred to the entire population as a whole. The high prevalence of hereditary motor and sensory neuropathies among certain ethnic groups is most likely due to the presence of ethnic isolates with a high degree of inbred members of the group.

Last modified: 2021-12-10 05:26:15