Identifying and communicating early signs of DMD globally is the key to Early Diagnosis. Although some studies show a slight improvement in the age of diagnosis of DMD there continues to be a delay – on average 2 years- in presentation to a health professional and a delay in obtaining a CK test after parents have seen the first signs. To reduce these delays, neonatal screening for DMD would be instrumental but is so far only available in very few countries. Early recognition of the obvious signs is the best instrument we have at the moment. Delayed gross motor milestones, gower’s sign and delayed speech should raise a red flag and be followed up by a CK test as soon as possible. Besides giving parents the opportunity for good parenting, an earlier diagnosis of DMD will allow timely access to genetic counselling, standards of care and clinical trials.
Duchenne parents tell why Early Diagnosis is important