Some of the implications of such screening are discussed in a review paper published recently in JAMA Neurology.
Senior author, Robert C. Griggs, MD, University of Rochester School of Medicine and Dentistry, New York, explained to Medscape Medical News that it is now realized that identifying patients with DMD at a very early age will be advantageous because corticosteroid therapy can be started before muscle fibrosis has developed and symptoms have clinically manifested.
"Other new treatments, including genetic therapies, are also becoming available, and we believe early treatment will be beneficial," he added.
He said the field is following in the footsteps of cystic fibrosis. Early identification of patients with this disease has led to improved care, which, in turn, has tripled the lifespan of those affected. "We hope similar strides can be made with Duchenne."
Although DMD affects mainly boys because it is an X-linked recessive condition, Dr Griggs recommends that both male and female babies be screened. He points out that it is actually logistically easier to screen all newborns rather than limit testing to boys only.
"This highlights the importance of identification of alternative diagnoses with elevated neonatal CK levels and providing guidance to physicians who follow up these patients," the authors write.
"Many of these other conditions may well be the subject of new treatments in development, too. The whole field is moving forward now," Dr Griggs said.
The authors note that although the sensitivity of initial CK screening for DMD is high, there will also be a possibility of some false-negative results.
Screening newborn CK levels is likely to miss some female DMD carriers, cases of Becker muscular dystrophy, and patients with X-linked cardiomyopathy, they state.
Gatheridge MA, Kwon JM, Mendell JM, Scheuerbrandt G, Moat SJ, Eyskens F,
Rockman-Greenberg C, Drousiotou A, Griggs RC. Identifying Non-Duchenne Muscular
Dystrophy-Positive and False Negative Results in Prior Duchenne Muscular
Dystrophy Newborn Screening Programs: A Review. JAMA Neurol. 2015 Nov 23:1-7.