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Newborn screening for DMD shows promise as an international model
Date:3/19/2012

Investigators at Nationwide Children's 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 Secretary's 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 other muscular dystrophies. Using CK testing on dried blood spots derived from heel-sticks to identify DMD cases during the newborn period was validated in 1979 and launched a pathway for this method of testing at birth. If CK was elevated, it was repeated at four to six weeks of age on venous blood obtained in the doctor's office. If elevation persisted, blood was again taken and DNA was isolated from white blood cells and tested for DMD mutations to establish a definitive diagnosis. This three-step screening process took shape in New Zealand and spread to programs in Edinburgh, Germany, Canada, France, Wales, Cyprus and Belgium and Western Pennsylvania. The longes
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Contact: Erin Pope
Erin.Pope@NationwideChildrens.org
614-355-0495
Nationwide Children's Hospital
Source:Eurekalert

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