Delayed diagnosis of Duchenne muscular dystrophy

Eur J Paediatr Neurol. 2000;4(5):219-23. doi: 10.1053/ejpn.2000.0309.


A late diagnosis of Duchenne muscular dystrophy has implications for both child and family. This repeat audit has shown that the diagnosis continues to be delayed. The failure to recognize that non-motor, and specifically speech and language delay are common features of this disease may detract from the motor difficulties in affected children and contribute to the late diagnosis of this disorder. In the absence of a national newborn screening programme for Duchenne muscular dystrophy, all health care professionals should be made more aware of the condition and have a lower threshold for measuring a creatine phosphokinase level.

Publication types

  • Review

MeSH terms

  • Child
  • Child, Preschool
  • Creatine Kinase / blood*
  • Developmental Disabilities / diagnosis*
  • Developmental Disabilities / etiology
  • Developmental Disabilities / genetics
  • Diagnosis, Differential
  • Genetic Predisposition to Disease
  • Humans
  • Infant
  • Language Development Disorders / etiology
  • Language Development Disorders / genetics
  • Male
  • Muscular Dystrophy, Duchenne / complications
  • Muscular Dystrophy, Duchenne / diagnosis*
  • Muscular Dystrophy, Duchenne / enzymology
  • Muscular Dystrophy, Duchenne / psychology*
  • Neonatal Screening*
  • Retrospective Studies
  • Speech Disorders / etiology
  • Speech Disorders / genetics
  • United Kingdom / epidemiology


  • Creatine Kinase