International Journal of Neonatal Screening (Aug 2019)

Duchenne Muscular Dystrophy Newborn Screening: Evaluation of a New GSP<sup>®</sup> Neonatal Creatine Kinase-MM Kit in a US and Danish Population

  • Anne Timonen,
  • Michele Lloyd-Puryear,
  • David M. Hougaard,
  • Liisa Meriö,
  • Pauliina Mäkinen,
  • Ville Laitala,
  • Tuukka Pölönen,
  • Kristin Skogstrand,
  • Annie Kennedy,
  • Sari Airenne,
  • Hanna Polari,
  • Teemu Korpimäki

DOI
https://doi.org/10.3390/ijns5030027
Journal volume & issue
Vol. 5, no. 3
p. 27

Abstract

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Duchenne muscular dystrophy (DMD/Duchenne) is a progressive X-linked disease and is the most common pediatric-onset form of muscular dystrophy, affecting approximately 1:5000 live male births. DNA testing for mutations in the dystrophin gene confirms the diagnosis of this disorder. This study involves assessment of screening newborns for DMD using an immunoassay for muscle-type (MM) creatine kinase (CK) isoform—the GSP Neonatal CK-MM kit. Comparisons were made with CK activity determination by fluorescence measurement. In addition, the study evaluated the effect of gestational age, age of infant at time of sampling and how stable the CK-MM was over time. This assay discriminates well between normal, unaffected and Duchenne affected populations and is suitable for Duchenne newborn screening.

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