A team of researchers at the Ohio State University in Columbus, have tested all newborns boys for Duchenne muscular dystrophy (DMD) and the result is found feasible and effective. Creatine kinase testing of newborn boys, with follow-up DNA analysis in those with positive results, has identified two cases of DMD among nearly 5,000 births. In both cases, the infants’ creatine kinase levels were higher than 2,400 U/L.

The pilot program is designed to 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.

Here parents of newborn boys at four hospitals in the Columbus and Cincinnati areas were asked to allow their babies for the test. The tests were performed on dried blood spots collected as part of routine neonatal screening. Because DMD causes abnormally elevated creatine kinase levels at birth, it was used as the initial screening test. In the preliminary results reported here, involving 4,983 newborns, the researchers identified 66 children with creatine kinase levels above 600 U/L.

Duchenne muscular dystrophy 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 3,500 male births is comparable to that of cystic fibrosis and some other conditions that are part of routine screening panels. Mothers generally carry the disease. The symptoms are generally confused with those of the other diseases.

Roula al-Dahhak, M.D., of Ohio State University, who helped conduct the program, said it was very popular with parents as majority of participants say it should be implemented as part of routine screening. In addition to helping the parents and children, the program is likely to offer benefits to medical science too.

Source: Medpage Today