What are the early signs and symptoms of Duchenne muscular dystrophy?

The onset of symptoms occurs in childhood.1 Delayed motor milestones are the most noticeable signs in early childhood. Key symptoms can include:2
  • Delayed motor development2
  • Difficulty rising to stand or not walking well by 18 months1,3
  • Delayed speech and/or cognitive delay2

How a DMD child might rise from the floor: Gowers’ manoeuvre4–6

The difference in calf muscles of a healthy boy versus a boy with DMD

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Recognising red flag signs and symptoms

Developmental delay should trigger a creatine kinase (CK) test2,3

1. Ciafaloni E, et al. J Pediatr. 2009;155:380–385.
2. Birnkrant DJ, et al. Lancet Neurol. 2018;17:251–267.
3. National Task Force for Early Identification of Childhood Neuromuscular Disorders. Guide for primary care providers. Available at: https://childmuscleweakness.org/wp-content/uploads/2019/05/PrimaryCareProviderPacket.pdf [last accessed November 2020].
4. Annexstad EJ, et al. Tidsskr Nor Laegeforen. 2014;134:1361–1364.
5. Sussman M. J Am Acad Orthop Surg. 2002;10:138–1513.
6. Amato AA, Brown RH Jr. Muscular dystrophies and other muscle diseases. In: Longo DL, et al. eds. Harrison’s Principles of Internal Medicine, 19th Ed. Access Medicine McGraw-Hill.
7. Noritz GH, et al. Pediatrics. 2013;131:e2016–e2027.
8. Centers for Disease Control and Prevention. Developmental milestones. Available at: https://www.cdc.gov/ncbddd/actearly/pdf/checklists/all_checklists.pdf [last accessed November 2020].
9. Lurio JG, et al. Am Fam Physician. 2015;91:38–44.
10. van Dommelen P, et al. Dev Med Child Neurol. 2020; doi: 10.1111/dmcn.
11. National Task Force for Early Identification of Childhood Neuromuscular Disorders. Child muscle weakness. 2019. Available at: www.childmuscleweakness.org [last accessed November 2020].
12. Parsons EP, et al. Eur J Paediatr Neurol. 2004;8:145-153.
13. Ardıçlı D, et al. Neuropediatrics. 2019;50:41-45.
14. Counterman KJ, et al. Muscle Nerve. 2020;61:36-34.
15. Aartsma-Rus A, et al. J Pediatr. 2019;204:305–313.e14.

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