A May 11 press release outlines a study by the University of Rochester Medical Center states that “boys show signs of Duchenne Muscular Dystrophy (DMD) for 2 ½ years before they obtain a diagnosis and disease-specific treatment, about the same length of delay children have endured for the past 20 years despite advances in genetic testing and treatment.”
The test for DMD is inexpensive and more than 95% accurate, but it appears that many parents don’t recognize the symptoms as early indicators. URMC associate professor Emma Ciafaloni, M.D., is quoted as saying “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 health care providers as soon as they see them. And we need to educate pediatricians, family practitioners and all providers involved in the care of young children to recognize 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.”
Dr. Ciafaloni was kind enough to provide a link to the abstract of the article on pubmed. I am looking forward to reading the publication and revisiting this issue.