Age at diagnosis for Duchenne muscular dystrophy: Why we must do better

Abstract

Age at diagnosis for Duchenne muscular dystrophy: Why we must do better This issue of the Journal includes an article by Thomas et al on behalf of the Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet). 1 The authors retrospectively review the age at diagnosis for males born with Duchenne muscular dystrophy (DMD) between 2000 and 2015. It is shown that, despite several initiatives, including education programs for pediatric health-care providers and a published algorithm for those investigating children with developmental delay, there has been no improvement in the age of diagnosis of DMD over a 30-year period. Despite the first signs of the condition appearing at a mean age of 2.7 years, a blood test for serum creatine kinase (CK) was not done until the child was, on average, 4.6 years of age. The mean age of diagnostic testing was 4.9 years for all children born between 2000 and 2015, compared with 5 years for children born between 1982 and 2000. More concerning is the finding that diagnostic confirmation was most frequently delayed in certain ethnic communities, specifically non-Hispanic black (6.7 years) and Hispanic (5.8 years) individuals, compared with non-Hispanic whites (4.5 years) and non-Hispanic others (4.1 years), indicating a potentially significant socioeconomic impact on age of diagnosis.

The Importance of Implementing a Transition Strategy for Patients with Muscular Dystrophy: From Child to Adult—Insights from a Tertiary Centre for Rare Neurological Diseases

“…In our cohort of patients, the diagnostic gap was 3 years. In the medical literature, the average time gap between the clinical onset of symptoms and diagnosis is 2.2 years [ 18 , 19 , 20 ]. During this 3-year time span, the disease gradually evolved at a rate similar to that cited in the medical literature.…”