title: Delayed diagnosis in duchenne muscular dystrophy: data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet).
abstract: OBJECTIVE
  To identify key factors for the delay in diagnosis of Duchenne muscular dystrophy (DMD) without known family history.
  
  
  METHODS
  The cohort comes from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet), a multistate, multiple-source, population-based surveillance system that identifies and gathers information on all cases of Duchenne and Becker muscular dystrophy born since 1982. We analyzed medical records of 453 Duchenne and Becker muscular dystrophy boys to document the time course and steps taken to reach a definitive diagnosis.
  
  
  RESULTS
  Among 156 boys without known family history of DMD prior to birth, first signs or symptoms were noted at a mean age of 2.5 years. Concerns resulted in primary care provider evaluation of the child at a mean age of 3.6 years. Mean age at time of initial creatine kinase was 4.7 years. Mean age at definitive diagnosis of DMD was 4.9 years.
  
  
  CONCLUSIONS
  There is a delay of about 2.5 years between onset of DMD symptoms and the time of definitive diagnosis, unchanged over the previous 2 decades. This delay results in lost opportunities for timely genetic counseling and initiation of corticosteroid treatment. We recommend checking creatine kinase early in the evaluation of boys with unexplained developmental delay.
authors.affiliation: Department of Neurology, University of Rochester, Rochester, NY, USA. Emma_ciafaloni@urmc.rochester.edu
authors.forename: Emma
authors.initials: E
authors.lastname: Ciafaloni
authors.forename: Deborah J
authors.initials: DJ
authors.lastname: Fox
authors.forename: Shree
authors.initials: S
authors.lastname: Pandya
authors.forename: Christina P
authors.initials: CP
authors.lastname: Westfield
authors.forename: Soman
authors.initials: S
authors.lastname: Puzhankara
authors.forename: Paul A
authors.initials: PA
authors.lastname: Romitti
authors.forename: Katherine D
authors.initials: KD
authors.lastname: Mathews
authors.forename: Timothy M
authors.initials: TM
authors.lastname: Miller
authors.forename: Dennis J
authors.initials: DJ
authors.lastname: Matthews
authors.forename: Lisa A
authors.initials: LA
authors.lastname: Miller
authors.forename: Christopher
authors.initials: C
authors.lastname: Cunniff
authors.forename: Charlotte M
authors.initials: CM
authors.lastname: Druschel
authors.forename: Richard T
authors.initials: RT
authors.lastname: Moxley
mesh_terms: D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D042241:Early Diagnosis; D006801:Humans; D007223:Infant; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis*; D011159:Population Surveillance; D012189:Retrospective Studies; D013997:Time Factors