Duchenne muscular dystrophy is a progressive disease presenting in early childhood that needs an accurate and early diagnosis

Once muscle is lost, it cannot be restored.1–3 Therefore, early testing and diagnosis are critical to gain access to the right treatments and services1,4-6

The timeline provides a summary of key motor and non-motor developmental milestones that may be missed in a child presenting with a neuromuscular disorder and children with Duchenne muscular dystrophy.

Recognising red flag signs and symptoms

Children with developmental delays or other signs of Duchenne muscular dystrophy should have a creatine kinase (CK) test
For more information about CK testing, click here

 

1. Birnkrant DJ, et al. Lancet Neurol. 2018;17:251–267.
2. Blake DJ, et al. Physiol Rev. 2002;82:291–329.
3. Laing NG, et al. Clin Biochem Rev. 2011;32:129–134.
4. van Ruiten HJ, et al. Arch Dis Child. 2014;99:1074–1077.
5. Lurio JG, et al. Am Fam Physician. 2015;91:38–44.
6. 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].
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. van Dommelen P, et al. Dev med Child Neurol. 2020; doi: 10.1111/dmcn.14623.
10. Ciafaloni E, et al. J Pediatr. 2009;155:380–385.
11. Parsons EP, et al. Eur J Paediatr Neurol. 2004;8:145–153.
12. Ardıçlı D, et al. Neuropediatrics. 2019;50:41–45.
13. Counterman KJ, et al. Muscle Nerve. 2020;61:36–4.
14. Aartsma-Rus A, et al. J Pediatr. 2019;2014:305–313.e14.

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