title: Increased prevalence of inherited neuromuscular disorders due to endogamy in Northeast Brazil: the need of community genetics services.
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.
authors.affiliation: Departamento de Biologia, Universidade Estadual da Paraíba, Rua Baraunas, 351, Campina Grande, PB, 58429-500, Brazil, silvanasantos@ccbs.uepb.edu.br.
authors.forename: Silvana
authors.initials: S
authors.lastname: Santos
authors.forename: Anne Aluska
authors.initials: AA
authors.lastname: da Silva Pequeno
authors.forename: André
authors.initials: A
authors.lastname: Pessoa
authors.forename: Claudia Regina Cabral
authors.initials: CR
authors.lastname: Galvão
authors.forename: Jovany Luiz Alves
authors.initials: JL
authors.lastname: de Medeiros
authors.forename: Weller
authors.initials: W
authors.lastname: Mathias
authors.forename: Fernando
authors.initials: F
authors.lastname: Kok