Incidence rate of common hereditary neuromuscular diseases in the Republic of Moldova
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2023-11-25 19:29
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616.74-007.17-056.7(478) (1)
Patologia organelor de locomoţie. Sistemul osos şi locomotor (469)
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SAKARA, Viktoria K.. Incidence rate of common hereditary neuromuscular diseases in the Republic of Moldova. In: International Congress of Geneticists and Breeders from the Republic of Moldova, Ed. 11, 15-16 iunie 2021, Chişinău. Chișinău, Republica Moldova: Centrul Editorial-Poligrafic al Universităţii de Stat din Moldova, 2021, Ediția 11, p. 60. ISBN 978-9975-933-56-8. DOI: https://doi.org/10.53040/cga11.2021.042
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International Congress of Geneticists and Breeders from the Republic of Moldova
Ediția 11, 2021
Congresul "International Congress of Geneticists and Breeders from the Republic of Moldova"
11, Chişinău, Moldova, 15-16 iunie 2021

Incidence rate of common hereditary neuromuscular diseases in the Republic of Moldova

DOI:https://doi.org/10.53040/cga11.2021.042
CZU: 616.74-007.17-056.7(478)

Pag. 60-60

Sakara Viktoria K.
 
Institute of Mother and Child
 
 
Disponibil în IBN: 16 iunie 2021


Rezumat

The occurrence rate of neuromuscular diseases in the world is 2.4 – 33.8 cases per 100,000 of the population with the average rate of 27.2 :100,000 of the population. The occurrence rate of the hereditary neuromuscular pathologies in Moldova is 23.5:100,000 which conforms the data of international community. Progressive muscular dystrophies had been manifested with the occurrence rate 15.2±0.18:100,000 of the population. The share of this group is 48% of the total amount of hereditary neuromuscular diseases. The most common disease in the subgroup of X-linked myodystrophies was infantile DMD form with the occurrence rate 9.13±0.27:100,000 of the population, which conforms the data represented by Orphanet (4.78-15.1) (Orphanet Report Series, Jan, 2019), and regarding Russia – 1.35-11.23:100,000 of the population (P. Akhmidova, 2015). The most common from among autosomal recessive Limb–girdle muscular dystrophy (LGMD) was adolescent Erb’s myodystrophy.The incidence rate of LGMD in RM is 5.3±0.61:100,000 of the population, which exceeds the data represented by Orphanet (2.85) and corresponds the situation in Russia (1.15-5.79). The incidence rate of Facioscapulohumeral muscular dystrophy (FSHD) is 0.76±0.18 per 100,000 of the population in the RM and is within the margin stated for Russia (0.48-4.53), but below the data value represented by Orphanet. Hereditary spinal amyotrophy forms (SMA I-III types) had been established with incidence rate in the Republic of Moldova 8.43±0.15:100,000 of the population which is dramatically higher the values represented by Orphanet (2.93) and those ones stated for Russia (0.31-3.91). This value shows the alertness of the physicians and high quality of the diagnostics in the Republic of Moldova. The incidence rate of hereditary motor sensory neuropathies in the Republic of Moldova is 7.2±0.39:100,000 of the population which is significantly below the values represented by Orphanet (22.0) and within the values stated for Russia (3.2515.8). This value demonstrates the insufficient quality of diagnostics of these diseases in medical genetic center of the Republic of Moldova. Thus, the analysis of the incidence rate of common neuromuscular diseases enables to schedule the prevention activity in the regions of the republic.