title: Screening for Duchenne muscular dystrophy.
abstract: A programme was introduced in Wales to screen all 18 month old boys who were not yet walking for raised creatine kinase activity within the existing community developmental screening programme. During an 18 month period 25 229 such boys were identified of whom 19 930 (79%) had a Denver developmental screening test and 338 (1.7%) of these were not walking. Two hundred and five of those who did not walk (61%) had creatine kinase activity assayed and two cases of Duchenne muscular dystrophy were detected. We conclude that screening boys of 18 months who do not walk is worthwhile if the opportunity arises, but that a population based screening programme of this type is not justified as detection rates will be unacceptably low.
authors.affiliation: Institute of Medical Genetics, University of Wales, College of Medicine, Cardiff.
authors.forename: R A
authors.initials: RA
authors.lastname: Smith
authors.forename: M
authors.initials: M
authors.lastname: Rogers
authors.forename: D M
authors.initials: DM
authors.lastname: Bradley
authors.forename: J R
authors.initials: JR
authors.lastname: Sibert
authors.forename: P S
authors.initials: PS
authors.lastname: Harper
mesh_terms: D002657:Child Development; D002675:Child, Preschool; D003402:Creatine Kinase / Q000097:blood*; D005470:Fluorometry; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D008297:Male; D008403:Mass Screening; D009136:Muscular Dystrophies / Q000097:blood / Q000453:epidemiology* / Q000523:psychology; D009483:Neuropsychological Tests; D011446:Prospective Studies; D014852:Wales / Q000453:epidemiology
chemical_list: D003402:Creatine Kinase