Hereditary neuromuscular diseases in children of Belarus: Republican Register date

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