Multicentric Study on the Diagnostic of Neuromuscular Diseases in Children with High Creatinine Phosphokinase Levels
2024

Diagnosing Neuromuscular Diseases in Children with High CK Levels

Sample size: 33 publication Evidence: moderate

Author Information

Author(s): Cláudia Monteiro, Cristina Garrido, Ângela Pereira, Andreia Dias, Mariana Costa, Catarina Magalhães, Manuela Ferreira, Miguel Costa, Manuela Santos, Andrea Martinuzzi

Primary Institution: Centro Hospitalar Tâmega e Sousa

Hypothesis

Can high levels of creatine phosphokinase (CK) in children indicate the presence of neuromuscular diseases (NMDs)?

Conclusion

High CK levels in children should prompt consideration of neuromuscular diseases, even in those with mild symptoms.

Supporting Evidence

  • 30% of the patients had a diagnosis of a neuromuscular disease.
  • Dystrophinopathies were the most common diagnosis, representing 21% of cases.
  • Half of the patients received a diagnosis that impacted their care and treatment.
  • High CK levels can indicate neuromuscular diseases even in asymptomatic children.

Takeaway

If kids have high CK levels, it might mean they have a muscle disease, even if they don't seem sick. Checking CK levels can help doctors find these diseases early.

Methodology

A prospective, observational study was conducted on children with high CK levels across pediatric units in northern Portugal.

Limitations

The study was limited to a hospital-based population and only included 8 out of 12 pediatric departments.

Participant Demographics

Most participants were males, with an average age of 7 years.

Digital Object Identifier (DOI)

10.3390/children11121462

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