| Literature DB >> 24277254 |
Silvana Santos1, Anne Aluska da Silva Pequeno, André Pessoa, Claudia Regina Cabral Galvão, Jovany Luiz Alves de Medeiros, Weller Mathias, Fernando Kok.
Abstract
The aim of this study was to investigate the prevalence of inherited neuromuscular disorders (NMDs) in eight communities in Northeast (NE) Brazil in which there was an elevated rate of inbreeding. A cross-sectional epidemiological study, using the key informant (KI) approach, was performed to estimate the prevalence of NMD among the 48,499 individuals living in these eight communities, located in the backlands of the Paraíba State. Twenty-seven individuals fulfilled the diagnostic criteria for inherited NMD, which means that 1 out of 1,796 inhabitants of this highly consanguineous population was affected by NMD. This is twofold higher than that observed in previous studies in general population and was probably due to a combination of genetic drift and inbreeding. Public policies should be implemented to offer genetics services in high-risk communities.Entities:
Year: 2013 PMID： 24277254 PMCID： PMC4059843 DOI： 10.1007/s12687-013-0174-9
Source DB: PubMed Journal: J Community Genet ISSN： 1868-310X