title: Improving recognition of Duchenne muscular dystrophy: a retrospective case note review.
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).
  
  
  OBJECTIVE
  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.
  
  
  METHODS
  A retrospective case note review.
  
  
  METHODS
  A tertiary centre for neuromuscular diseases in England.
  
  
  METHODS
  All boys without family history diagnosed with DMD in the last 10 years (n=20).
  
  
  METHODS
  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.
authors.affiliation: MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne, UK.
authors.forename: Henriette J A
authors.initials: HJ
authors.lastname: van Ruiten
authors.affiliation: MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne, UK.
authors.forename: Volker
authors.initials: V
authors.lastname: Straub
authors.affiliation: MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne, UK.
authors.forename: Kate
authors.initials: K
authors.lastname: Bushby
authors.affiliation: MRC Centre for Neuromuscular Diseases, Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne, UK.
authors.forename: Michela
authors.initials: M
authors.lastname: Guglieri
mesh_terms: D000367:Age Factors; D002648:Child; D002675:Child, Preschool; D003402:Creatine Kinase / Q000097:blood; D042241:Early Diagnosis; D004739:England; D006801:Humans; D007223:Infant; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000201:enzymology; D012189:Retrospective Studies; D062606:Tertiary Care Centers
chemical_list: D003402:Creatine Kinase
keywords: Duchenne muscular dystrophy; Paediatrics; creatine kinase; developmental delay; diagnosis