110 Delay to diagnosis of Duchenne muscular dystrophy

Abstract Background Duchenne muscular dystrophy (DMD) is characterized by progressive weakness, early loss of ambulation and premature death in the second or third decade. DMD typically presents with painless weakness which may contributed to delay in its recognition. Treatments are emerging which necessitate a more rapid diagnosis. Objectives To assess the delay to diagnosis of Duchenne muscular dystrophy as defined by the difference between the age of first reported symptom onset to the age at which a definitive diagnosis (genetic testing or biopsy) was obtained. Design/Methods Retrospective chart review was performed for all patients with DMD at the Children’s Hospital of Eastern Ontario (CHEO) over 15 years (Jan 1, 2009 to Dec 31, 2023). The data presented is from CHEO in Ottawa, ON and will be combined with data from Bloorview Holland Rehabilitation Hospital (Toronto, ON) and British Columbia Children’s Hospital (Vancouver, BC) when available. Inclusion criteria included: 1) diagnosis of genetically or biopsy-confirmed DMD; 2) onset of weakness < 6 years old (to differentiate from Becker MD). Patients for whom complete records were unavailable, were not regularly followed (e.g. seen for second opinion or clinical trial participation) or had a family history of DMD (which may influence time-to-diagnosis) were excluded. Results We identified 72 DMD patient who received care at CHEO. A total of N=49 were included in the analysis with subjects excluded because of incomplete data N=10 (e.g. diagnosis made at another center); initial symptom onset > 6 years old (N=4) or; known family history (N=9). First clinical symptoms were reported by a parent, caregiver, teacher or health professional at a mean age of 2.7 years old (range: birth to 5.9 yo) with diagnosis of DMD made at mean age of 5.2 years old (range: 0.5 to 9.6 yo), representing a mean delay of 2.5 years (range: 0 to 6.8 years). Initial symptoms related to the subjects’ DMD included: weakness (61.2%), sports difficulty (61.2%), calf pseudohypertrophy (10.2%), language difficulties (8.2%) or muscle pain (2.0%). Cognitive delays were also reported frequently with a total of 36 / 49 (73.5%) subjects having a diagnosed learning disability and 7 / 49 (14.3%) autistic spectrum disorder. Conclusion The mean delay to diagnosis of patients followed at our centre (2.5 years) was similar to that in the United Kingdon (MD STARnet) which also reported a mean delay of 2.5 years from initial symptom-onset to diagnosis. We advocate for increased education to identify DMD earlier, particularly given the emerging therapies for this disorder.

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