Prevalence of myotonic dystrophy type 1 in Pinar del Río province, Cuba

Abstract

Introduction: myotonic dystrophy type 1 is a hereditary neuromuscular disease, whose global prevalence is 1/8000, it is clinically heterogeneous and multisystemic. Objective: to describe the prevalence of Myotonic Dystrophy type 1 in the province of Pinar del Río, Cuba. Methods: a descriptive, retrospective and cross-sectional study was carried out in patients with DM1 registered in the Department of Medical Genetics of the Pinar del Río province, Cuba, between January 2019 and December 2022.The sample was made up of 97 patients.Data were collected from the medical records related to sex, age groups, municipality of residence, popular council to which they belong according to residence and clinical form that allowed prevalence rates to be estimated.Variables were summarized with absolute numbers and percentages. Results: the prevalence rate for males was 14,4 and for females 19,2 per 100,000 inhabitants. In the municipalities of Mantua and La Palma, prevalence rates of 46,6 and 44,4 per 100,000 inhabitants respectively were reported. The popular councils with very high prevalence rates were: Playuela (172,9 per 100,000 inhabitants), Ovas and Villa II (146,5 and 130,3 per 100,000 inhabitants respectively). Conclusions: the prevalence of DM1 in Pinar del Río is similar to that of several countries; however, there are communities in the north of the province and isolated communities with higher rates. These data obtained through clinical research reveal the need for molecular studies that allow the design of intervention strategies.