Prevalência de doenças neuromusculares e demandas por serviços especializados em municípios da Paraíba, Brasil

Abstract

INTRODUCTION: The Northeastearn states of Brazil have higher frequencies of consanguineous marriages, which contribute to increase the risk of children affected by different genetic diseases. OBJECTIVES: The aim of this study was to estimate the prevalence of disabled people and to characterize their etiological factors and demands for rehabilitation services and assistive technology. MATERIALS AND METHODS: Crosssectional

epidemiological study using the method of the informant, involving eight communities with high rates of inbreeding in the state of Paraíba, Brazil. 338 individuals were indicated and 256 selected to perform clinical genetics evaluation. Descriptive and correlation statistical analysis was performed using SPSS 17 with significance level of 5%. RESULTS: The frequency of individuals with physical disabilities in the population was 0.3% and 48.5% had genetic etiology. The estimated prevalence of inherited neuromuscular disease was 1/1.732 inhabitants, having been identified three clusters of these neuromuscular diseases: Spoan syndrome, girdle muscular dystrophy type IIB (disferlinopatia) and progressive spinal amyotrophy. CONCLUSION: These findings can show the existence of clusters, resulting from the combination of founder effect, genetic drift and inbreeding. Public policies for these communities should include access to specialized services such as medical genetics community and assistive technology.