Improving recognition of Duchenne muscular dystrophy: a retrospective case note review

Arch Dis Child. 2014 Dec;99(12):1074-7. doi: 10.1136/archdischild-2014-306366. Epub 2014 Sep 3.

Abstract

Background: Over the last 30 years, there has been little improvement in the age of diagnosis of Duchenne muscular dystrophy (DMD) (mean age of 4.5-4.11 years).

Aim: To review the diagnostic process for DMD in boys without a family history in order to identify where delays occur and suggest areas for improvement.

Design: A retrospective case note review.

Setting: A tertiary centre for neuromuscular diseases in England.

Patients: All boys without family history diagnosed with DMD in the last 10 years (n=20).

Outcome measures: Mean age at four key steps in the diagnostic pathway of DMD.

Results: (1) Age at first reported symptoms of DMD was 32.5 (8-72) months (2.7 years). (2) First engagement of a healthcare professional was at 42.9 (10-90) months. (3) Creatine kinase (CK) levels were checked at 50.1 (14-91) months. (4) Diagnosis of DMD was confirmed at 51.7 (16-91) months (4.3 years). The total delay from parental concern to diagnosis was 19.2 (4-50) months (1.6 years).

Conclusions: Our study shows an improvement in the age of diagnosis of DMD although there continues to be a delay in presentation to a health professional and a delay in obtaining a CK test. To reduce these delays, we propose screening for DMD as part of the Child Health Surveillance Programme, in addition to lowering the threshold for CK testing in primary care by promoting a new DMD mnemonic MUSCLE. An earlier diagnosis of DMD will allow timely access to genetic counselling, standards of care and clinical trials.

Keywords: Duchenne muscular dystrophy; Paediatrics; creatine kinase; developmental delay; diagnosis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age Factors
  • Child
  • Child, Preschool
  • Creatine Kinase / blood
  • Early Diagnosis
  • England
  • Humans
  • Infant
  • Male
  • Muscular Dystrophy, Duchenne / diagnosis*
  • Muscular Dystrophy, Duchenne / enzymology
  • Retrospective Studies
  • Tertiary Care Centers

Substances

  • Creatine Kinase