Creatine Kinase Levels Indicate Muscular Dystrophy in Newborns

DMD is a genetic disease leading to progressive muscle wasting and death, in most cases by age 35. The disease results from mutations in the dystrophin gene. It is passed mainly to male children from the mother, who usually has no symptoms. The disease is not included in routine newborn screening, even though its estimated prevalence of about one in 3500 male births is comparable to that of cystic fibrosis and some other conditions that are part of routine screening panels.

Creatine kinase testing of newborn boys, with follow-up DNA analysis in those with positive results, identified two cases of DMD among nearly 5,000 births, reported Jerry R. Mendell, M.D., from Ohio State University (Columbus, OH, USA) and colleagues. Although two cases may not sound like much, it is enough to validate the ongoing Ohio pilot program and set the parameters for future expansion, Dr. Mendell reported his results at a poster presentation at the 60th American Academy of Neurology meeting held in Chicago (IL, USA) on April12-19, 2008. These data and conclusions should be considered preliminary as they have not yet been reviewed and published.

The pilot program will screen 12,000 newborn boys, after which the investigators plan to extend it throughout the state. They hope it will eventually become part of routine newborn disease screening nationally. In the pilot program, parents of newborn boys at four hospitals in the Columbus and Cincinnati areas were asked to allow their babies to be tested. The tests were performed on dried blood spots collected as part of routine neonatal screening.


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