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Spinal Muscular Atrophy:Clinical Spectrum And Genetic Mutations In Pakistani Children, S. H. Ibrahim, Tariq Moatter, Ali Faisal Saleem
Spinal Muscular Atrophy:Clinical Spectrum And Genetic Mutations In Pakistani Children, S. H. Ibrahim, Tariq Moatter, Ali Faisal Saleem
Department of Paediatrics and Child Health
Background: In Pakistan the rate of consanguineous marriages is high, thus, the chance of incidence of autosomal recessive disorders is likely to be high. The aim of this study is to investigate the clinical characteristics and genetics of spinal muscular atrophy (SMA) in children who presented to Aga Khan University, Karachi.
Materials and Methods: This study was a retrospective review of the medical charts of children (neonate: 15 years) with discharge diagnosis of SMA during last 10 years. Demographic features, consanguinity, and diagnostic analysis (including genetic analysis) were noted.
Results: During the study period 67 children had a discharge diagnosis …