Screening for Duchenne muscular dystrophy

Abstract

A programme was introduced in Wales to screen al 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 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.