Children with developmental delays should have a creatine kinase (CK) test
If a child is failing to meet developmental milestones, it could be due to a neuromuscular disorder.1,2 Primary care physicians are ideally placed to recognise the early signs and symptoms of neuromuscular disorders, so that children can be referred to a neuromuscular specialist without delay.1,2 To check the red flag signs and symptoms click here.
If you suspect a neuromuscular disorder, order a CK blood test.1
• Elevated CK levels reflect muscle damage, and are a sign of certain neuromuscular disorders1–5
• A CK test is quick, simple and inexpensive1,3,6
A CK test should be carried out if:
- Examination and medical history suggest progressive muscle weakness7-9
- A child has delayed motor function, such as not walking well or not able to rise to stand by 18 months2,7,8,10
- A child shows developmental delay, including delays with mixed presentation (e.g. speech and cognition), and evaluation suggests a peripheral neuromuscular problem7
- A child has a positive family history of Duchenne muscular dystrophy and suspicion of abnormal muscle function2
- Blood tests reveal an unexplained increase in transaminases 2
Refer all patients with elevated CK levels or missed motor milestones8,11
All patients who have elevated CK levels should be promptly referred to a neuromuscular specialist.8,11
Normal or mildly elevated CK does not rule out neuromuscular disorder. If a patient has missed motor milestones, they should also be referred to a neuromuscular specialist.8
Prompt referral is vital to give your patients the best chance of better outcomes1,2
A neuromuscular specialist can then:2
Identify the child’s exact mutation2
Confirm Duchenne muscular dystrophy with a genetic diagnosis and identify the specific mutation causing the disease2
Define best management options2
Decide upon appropriate treatment and interventions to help delay disease progression2
Developmental delay should trigger a CK test
Prompt CK testing can help to achieve the correct diagnosis and bring reassurance to families.3,13 Learn more about CK testing here.
1. van Ruiten HJ, et al. Arch Dis Child. 2014;99:1074–1077.
2. Birnkrant DJ, et al. Lancet Neurol. 2018;17:251–267 [Part 1].
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. McDonald CM. Phys Med Rehabil Clin N Am. 2012;23:495–563.
5. Chakrabarty T, et al. Arch Dis Child Educ Pract Ed. 2020;105:157–163
6. Essex C, et al. BMJ. 2001;323:37–38.
7. Lurio JG, et al. Am Fam Physician. 2015;91:38–44.
8. National Task Force for Early Identification of Childhood Neuromuscular Disorders. Child Muscle Weakness. 2019. Available at: www.childmuscleweakness.org [last accessed November 2020].
9. Chakrabarty T, et al. Arch Dis Child Educ Pract Ed. 2020;105(3):157–163.
10. WHO Multicentre Growth Reference Study Group. Acta Paediatr. 2006;450:86–95.
11. Aartsma-Rus A, et al. J Pediatr. 2019;204:305–313.e14.
12. 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].
13. Dubrovsky AL. EMJ Neurol. 2018;6:64–67.