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Evidence-based path to newborn screening for Duchenne muscular dystrophy.
Jerry R Mendell
1 ,
Chris Shilling ,
Nancy D Leslie ,
Kevin M Flanigan ,
Roula al-Dahhak ,
Julie Gastier-Foster ,
Kelley Kneile ,
Diane M Dunn ,
Brett Duval ,
Alexander Aoyagi ,
Cindy Hamil ,
Maha Mahmoud ,
Kandice Roush ,
Lauren Bird ,
Chelsea Rankin ,
Heather Lilly ,
Natalie Street ,
Ram Chandrasekar ,
Robert B Weiss
Mar 2012
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Abstract
Creatine kinase (CK) levels are increased on dried blood spots in newborns related to the birthing process. As a marker for newborn screening, CK in Duchenne muscular dystrophy (DMD) results in false-positive testing. In this report, we introduce a 2-tier system using the dried blood spot to first assess CK with follow-up DMD gene testing.