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Muscular Dystrophy Diagnosis Delayed in Most Boys, Earlier Testing Recommended ROCHESTER, NY -- May 11, 2009 -- Boys show signs of Duchenne Muscular Dystrophy (DMD) for 2.5 years before they obtain a diagnosis and disease-specific treatment, according to a study published in the Journal of Pediatrics. The study showed that boys who are eventually diagnosed with DMD show signs of the disease for more than a year before families bring it to the attention of a healthcare provider. It takes another year before these children are screened with a serum CK test. "The CK test is an easily available and cheap test," said lead author Emma Ciafaloni, MD, University of Rochester Medical Center, Rochester, New York. "If they get the test and the diagnosis earlier, they can start treatment earlier and access the best care in the appropriate clinics and the best available services in their school." "Early diagnosis will avoid unnecessary and costly tests and numerous unnecessary referrals to the wrong specialists," she continued. "Parents and maternal relatives can also seek genetic counselling before they plan to have more children." The study analysed medical records of 453 boys born since 1982 with DMD or Becker Muscular Dystrophy in the Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet). Of those, 156 boys had no known family history of muscular dystrophy. The first signs of the disease in those boys were seen at an average age of 2.5 years, but the average age when families brought the signs to the attention of a health care provider was 3.5 years. The average age for children to receive the CK test or to see a neurologist was more than 4.5 years. "We need to educate families to bring delays or abnormalities in motor skill -- such as frequent falls, difficulty jumping, running or claiming stairs -- to the attention of their healthcare providers as soon as they see them," said Dr. Ciafaloni. "We need to educate paediatricians, family practitioners, and all providers involved in the care of young children to recognise the early signs of DMD and to order a CK test if they see any motor delays or abnormalities. The sooner we start treatment, the more potential we have for delaying the disease's progression." SOURCE: University of Rochester Medical Center E-mail this page to a friend or colleague! To print, use this version