Claim your CME credit at https://reachmd.com/programs/cme/the-role-of-the-pediatrician-in-the-early-diagnosis-of-dmd-and-sma/10569/
Pediatricians are uniquely positioned to provide family-centered care in Duchenne Muscular Dystrophy (DMD) and Spinal Muscular Atrophy (SMA) based on the understanding that the family is the child’s primary source of strength and support. Pediatricians need to regularly screen, identify, and evaluate babies and young children for delay in neuromotor development, which is a cardinal feature of DMD and SMA. For both diseases, there is significant delay from the time of earliest symptoms to a definitive diagnosis. With current therapies that modify disease, it is critical to reduce this diagnostic delay. This CME-certified activity will review published guidelines for the early screening and identification of infants with motor delay, initial steps in evaluation and management, and recommendations for specialty referral.
For patients with DMD, intervening at the earliest stages of disease, before muscle loss and fibrosis, is critical for long-term disease amelioration. This activity will review the utility of CK levels and the role of diagnostic tests such as genetic testing and muscle biopsy. We will discuss the physiologic basis and data to support current and emerging pharmacologic approaches for modifying disease progression in DMD.
Similarly, early treatment of patients with SMA, prior to the irreversible loss of motor neurons ...