Original ArticleDelayed Diagnosis in Duchenne Muscular Dystrophy: Data from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet)
Section snippets
Methods
The study cohort of 156 patients with DMD without a family history of DMD comes from the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) supported by the Centers for Disease Control and Prevention (CDC). MD STARnet identifies and gathers information on all cases of Duchenne and Becker muscular dystrophy (DBMD) born since 1982 and residing within Arizona, Colorado, Iowa, or Western New York State. The MD STARnet study population and surveillance methodology have been
Results
Data abstracted from the medical records of 453 patients with either Duchenne or Becker muscular dystrophy (DBMD) were submitted for clinician review to assign case status. The final data set contains a cohort of 156 boys with a definite or probable Duchenne muscular dystrophy case definition and without a known family history of DMD prior to birth (Figure).
Because MD STARnet is a retrospective chart review, not all of the data elements were complete for all patients. For example, age at first
Discussion
There continues to be a delay in recognition of the early signs and symptoms of DMD. This delay has not changed substantially over the past 20 years despite the availability of definitive molecular genetic testing and disease modifying treatments. The age of definitive diagnosis of DMD in our population-based study is 5 years, almost identical to that reported in small single clinic cohorts in the early 1980s and in the mid 1990s from the United States and Europe.12, 13, 14, 15, 16, 17, 18, 19,
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Supported by the Centers for Disease Control and Prevention Cooperative Agreement (5U01DD000187). The authors declare no conflicts of interest.