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P.070 Delay to diagnosis of Duchenne muscular dystrophy

Published online by Cambridge University Press:  10 July 2025

M Rodrigue
Affiliation:
(Ottawa)*
E Hill-Smith
Affiliation:
(Ottawa)
A Yaworski
Affiliation:
(Ottawa)
HJ McMillan
Affiliation:
(Ottawa)
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Abstract

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Background: Duchenne muscular dystrophy (DMD) typically presents with painless weakness which may contribute to its delayed recognition. Methods: Retrospective chart review was performed for patients with DMD at CHEO over 15 years (2009-2023). Our data will later be combined with that from two other centers. Inclusion criteria: 1) confirmed DMD; 2) symptom onset <6 yo. Exclusion criteria: incomplete records or family history of DMD. Results: We identified 72 DMD patients. Total of N=49 were analyzed. Subjects were excluded for: incomplete data N=10 (e.g. diagnosis at another centre); symptom onset ≥6 yo (N=4); family history (N=9). First symptoms were reported at a mean age of 2.7 yo (range: 0-5.9 yo) with diagnosis at mean age of 5.2 yo (range: 0.5 to 9.6 yo), representing a mean delay of 2.5 years (range: 0-6.8 yrs). Initial symptoms included: weakness (61.2%), sports difficulty (61.2%), calf pseudohypertrophy (10.2%), language difficulties (8.2%) or muscle pain (2.0%). Learning disability was reported in 36 (73.5%) subjects with 7 (14.3%) having autistic spectrum disorder. Conclusions: The mean delay to diagnosis of patients followed at our centre was similar to the United Kingdom (MDSTARnet). We advocate for increased education to identify DMD earlier, particularly given emerging therapies for this disorder.

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Abstracts
Copyright
© The Author(s), 2025. Published by Cambridge University Press on behalf of Canadian Neurological Sciences Federation