CME: The Role of the Pediatrician in the Early Diagnosis of DMD & SMA

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The Role of the Pediatrician in the Early Diagnosis of DMD & SMA

Program Information
The Role of the Pediatrician in the Early Diagnosis of DMD & SMA
Diagnostic delays are far too common in patients with Duchenne muscular dystrophy or spinal muscular atrophy. Here’s how to overcome this challenge.

Available credits: 1.00

Time to complete: 1 hour


Valid until:

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  • Overview

    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 in the spinal cord and brainstem, is critical for altering disease course, preventing morbidity and mortality. This activity will provide guidance for early recognition of SMA and review the diagnostic evaluation for children suspected of having SMA. We will discuss the pathological basis of the disease and the current and emerging approaches to treatment.

  • Target Audience

    This educational activity is designed for healthcare professionals treating patients with Duchenne Muscular Dystrophy and Spinal Muscular Atrophy.

  • Learning Objectives

    After completing this CME activity, the participant will be able to:

    • Discuss how the early diagnosis of DMD and SMA can facilitate the treatment of these diseases
    • Review the epidemiology, presenting symptoms, and diagnostic tests for DMD and SMA, which can facilitate the early diagnosis and treatment of these diseases
    • Explain the current understanding of the cellular pathophysiology of DMD
    • Describe how advances in the understanding of the molecular mechanisms involved has led to better treatment of neuromuscular degeneration
    • Explain how the current and emerging therapies for DMD and SMA can improve patient care
  • Accreditation and Credit Designation Statements

    This activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of Global Education Group (Global) and HealthmattersCME. Global is accredited by the ACCME to provide continuing medical education for physicians.

    Physician Credit Designation
    Global Education Group designates this enduring activity for a maximum of 1.0 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

  • Disclosure of Conflicts of Interest

    Global Education Group (Global) requires instructors, planners, managers and other individuals and their spouse/life partner who are in a position to control the content of this activity to disclose any real or apparent conflict of interest they may have as related to the content of this activity. All identified conflicts of interest are thoroughly vetted by Global for fair balance, scientific objectivity of studies mentioned in the materials or used as the basis for content, and appropriateness of patient care recommendations.

    The faculty reported the following financial relationships or relationships to products or devices they or their spouse/life partner have with commercial interests related to the content of this CME activity:

    Name of Faculty or Presenter

    Reported Financial Relationship

    Richard S. Finkel, MD

    Advisory Boards: AveXis, Biogen, Roche, Summit, Lilly

    Consultant/Independent Contractor: AveXis, Biogen, Ionis, Novartis, Roche

    Grant/Research Support: AveXis, Biogen, Bristol-Meyers Squibb, Capricor, Catabasis, Cytokinetics, Ionis, Lilly, Italfaramaco, ReveraGen, Roche, Sarepta, Summit


    Craig M. McDonald, MD

    Consultant/Independent Contractor: Astellas; Bristol-Myers Squib; Capricor Therapeutics, Inc.; Catabasis Pharmaceuticals, Inc.; Eli Lilly; Italfarmaco; Pfizer; Prosensa; PTC Therapeutics; Sarepta; Santhera Pharmaceuticals

    Grant/Research Support: Capricor Therapeutics, Inc.; Catabasis Pharmaceuticals; NIH (NINDS); Italfarmaco; Pfizer; PTC Therapeutics; Sarepta; Santhera Pharmaceuticals (Grants to UC Davis for conduct of clinical trials)

    Advisory Boards: Astellas; Capricor Therapeutics, Inc.; Catabasis Pharmaceuticals; Cardero Therapeutics; PTC Therapeutics; Sarepta; Santhera Pharmaceuticals


    Katherine D. Mathews, MD

    Advisory Boards: FSH Society, Muscular Dystrophy Association, Sarepta, Santhera (Receives no personal compensation aside from travel reimbursement)

    Principal Investigator: Intalfarmaco, Pfizer, PTC Therapeutics, Reata, Roche, Santhera, Sarepta, Takada

    Research Funding: CDC (MDSTARnet), FARA, NIH (Iowa Wellstone Center)

    The planners and managers reported the following financial relationships or relationships to products or devices they or their spouse/life partner have with commercial interests related to the content of this CME activity:

    Name of Planner or Manager

    Reported Financial Relationship

    Lindsay Borvansky

    Nothing to disclose

    Ashley Cann

    Nothing to disclose

    Andrea Funk

    Nothing to disclose

    Karen Kaufman

    Nothing to disclose

    Lindsay Knight

    Nothing to disclose

    Ashley Marostica, RN, MSN

    Nothing to disclose

    James Murphy

    Nothing to disclose

    Alexis Weinstein

    Nothing to disclose

  • Disclaimer

    Participants have an implied responsibility to use the newly acquired information to enhance patient outcomes and their own professional development. The information presented in this activity is not meant to serve as a guideline for patient management. Any procedures, medications, or other courses of diagnosis or treatment discussed in this activity should not be used by clinicians without evaluation of patient conditions and possible contraindications on dangers in use, review of any applicable manufacturer’s product information, and comparison with recommendations of other authorities.

  • Disclosure of Unlabeled Use

    This educational activity may contain discussion of published and/or investigational uses of agents that are not indicated by the FDA. Global Education Group (Global) and HealthmattersCME do not recommend the use of any agent outside of the labeled indications.

    The opinions expressed in the educational activity are those of the faculty and do not necessarily represent the views of any organization associated with this activity. Please refer to the official prescribing information for each product for discussion of approved indications, contraindications, and warnings.

  • Fee Information

    There is no fee for this educational activity.

  • Global Contact Information

    For information about the accreditation of this program, please contact Global at 303-395-1782 or inquire@

    This activity is jointly provided by Global Education Group and HealthmattersCME.

    This activity is supported by an independent educational grant from Sarepta Therapeutics.

    This symposium is neither sponsored nor endorsed by the American Academy of Pediatrics.

  • Terms of Offering

    This activity was released on January 31, 2019 and is valid for one year. Requests for credit must be made no later than January 31, 2020. 

  • Instructions to Receive Credit

    In order to receive credit for this activity, the participant must complete the online pre-test and post-test, with a passing score of 70% or higher, and the online evaluation form.

  • System Requirements

    Our site requires a computer, tablet or mobile device and a connection to the Internet. For best results, a high-speed Internet connection is recommended (DSL/cable). We also recommend using the latest version of your favorite browser to ensure compliance with W3C standards, such as Internet Explorer, Microsoft Edge, Chrome, Firefox or Safari. Users accustomed to IE8, IE9 IE10 are advised to update their browsers for the best experience.

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