[P3-133] Epidemiology of hereditary neuromuscular diseases in children in Almaty (Kazakhstan)
Introduction: to investigate the basic epidemiological characteristics neuromuscular diseases (NMD) in children in Almaty.
Methodology: In 2016 we studied 50 children with the diagnosis of the «NMD» aged from 1 month to 15 years, residents of Almaty and used epidemiological and biostatistical methods.
Results: boys - 60% (30), girls - 40% (20). Age group of patients up to 1 year: 7 children (14% ± 0,5), 1-3 years: 7 (14% ± 0,5), 4-7 years old: 10 (20% ± 0,6 ), 8-15 years: 26 (52% ± 1,0). By ethnicity: 25 children (50,0 ± 7,1) - Kazakhs, 7 (14,0 ± 4,9) - Russian, 6 (12,0 ± 4,6) - the Uighurs, 12 (24,0 ± 6.0) - representatives of other ethnic groups (Turks - 3, the Kurds - 3, Tatars - 3, Koreans - 2, Ukrainian - 1). The proportion of clinical forms: SMA - 26,0% ± 6,2, DMD - 16,0% ± 5,2, BMD - 10,0% ± 4,2, HMSN - 14,0% ± 4,9. Congenital myopathy accounted for 8,0% ± 3,8, myasthenic syndromes - 4,0% ± 2,8, myotonia and other MD - by 2,0% ± 2,0. Unspecified forms of HMSN amounted to 12,0% ± 4,6, unspecified forms of MD - 4,0% ± 2,8.
Conclusions. NMD prevalence among children Almaty was 0.2 per 1000 child population, which is significantly lower than literary data. Possible reasons for these results is the low awareness of primary care physicians about NMD, the lack of wide access to the genetic diagnosis. Results of the study are intermediate and require further study.
Methodology: In 2016 we studied 50 children with the diagnosis of the «NMD» aged from 1 month to 15 years, residents of Almaty and used epidemiological and biostatistical methods.
Results: boys - 60% (30), girls - 40% (20). Age group of patients up to 1 year: 7 children (14% ± 0,5), 1-3 years: 7 (14% ± 0,5), 4-7 years old: 10 (20% ± 0,6 ), 8-15 years: 26 (52% ± 1,0). By ethnicity: 25 children (50,0 ± 7,1) - Kazakhs, 7 (14,0 ± 4,9) - Russian, 6 (12,0 ± 4,6) - the Uighurs, 12 (24,0 ± 6.0) - representatives of other ethnic groups (Turks - 3, the Kurds - 3, Tatars - 3, Koreans - 2, Ukrainian - 1). The proportion of clinical forms: SMA - 26,0% ± 6,2, DMD - 16,0% ± 5,2, BMD - 10,0% ± 4,2, HMSN - 14,0% ± 4,9. Congenital myopathy accounted for 8,0% ± 3,8, myasthenic syndromes - 4,0% ± 2,8, myotonia and other MD - by 2,0% ± 2,0. Unspecified forms of HMSN amounted to 12,0% ± 4,6, unspecified forms of MD - 4,0% ± 2,8.
Conclusions. NMD prevalence among children Almaty was 0.2 per 1000 child population, which is significantly lower than literary data. Possible reasons for these results is the low awareness of primary care physicians about NMD, the lack of wide access to the genetic diagnosis. Results of the study are intermediate and require further study.