Newswise Investigators at Nationwide Childrens Hospital, working with the DNA Sequencing Core Facility at the University of Utah, have developed an approach to newborn screening (NBS) for the life-threatening genetic disorder, Duchenne muscular dystrophy (DMD) and potentially other muscular dystrophies. As a model for NBS, the approach published online in January in the Annals of Neurology provides evidence that this approach could be implemented if approved by regulatory bodies at a state level or alternatively through the Secretarys Advisory Committee on Heritable Disorders in Newborns and Children. DMD is the most common, severe childhood form of muscular dystrophy, inherited as an X-linked recessive disorder. Progressive muscle weakness with loss of ambulation by 12-to-13 years of age is the expected outcome. Heart involvement is significant and may require treatment to avert premature death. On average, patients are diagnosed with DMD at 5 years of age, although parents often notice impaired motor skills at an earlier age. Over the last three decades, creatine kinase (CK) testing on dried blood spots has been attempted as a method for newborn screening for DMD. CK is an enzyme that leaks into the blood from damaged muscle cells; it is markedly elevated in DMD and some … Continue reading
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