-
*Basil Darras, MD Genetics & Pathogenesis of Duchenne/Becker Muscular Dystrophy This course will discuss the basic clinical features of Dystrophinopathies including DMD gene mapping, cloning and structure as well as mutations and molecular diagnosis. We will also discuss Dystrophin protein and isoforms, the reading frame rule and exceptions, Dystrophinopathies in females and finally germline mosaicism. The professional completing this course will have an understanding of Genetics and the Pathogenesis of Duchenne/Becker Muscular Dystrophies. 1 AMA PRA Category 1 Credit ™
-
*John Brandsema, MD Clinical Features of Duchenne/Becker Muscular Dystrophy This educational course will review the clinical features of muscle disease. The participant will also learn the signs and symptoms of dystrophinopathies, the differential diagnosis, as well as the progression and natural history of Duchenne and Becker Muscular Dystrophies. Dr. Brandsema will provide an academic lecture but also will discuss case reviews, the implications of a long-term treatment plan and the importance of early diagnosis. 1 AMA PRA Category 1 Credit ™
-
*Elicia Estrella, MS, LCGC Molecular Diagnosis of Duchenne and Becker Muscular Dystrophy This course will describe the different molecular techniques used to diagnose patients with DMD and BMD. The lecture will Illustrate when to use different testing options and give case examples of how a DMD/BMD diagnosis is made, using both clinical and research genetic testing. We will also discuss why a molecular diagnosis is a critical part of patient care in 2023 and beyond. 1 AMA PRA Category 1 Credit ™
-
*Anne Connolly, MD, FAAN Glucocorticoid Steroids in Duchenne Muscular Dystrophy This educational course reviews the extensive experiences that Dr. Connolly has from a 30+ year tenure treating patients and their families with Duchenne Muscular Dystrophy. This course reviews the progression of the disease that can be expected over the lifetime of the patient and the impact that corticosteroid treatment has on the patient throughout this time. There will be a review of case studies and clinical trial data involving dosing and efficacy, results in bone health, pulmonary function, ambulation as well as a review of side effects that may occur over different time and dosing standards. The medical professional taking this course will also learn the critical importance of maintaining corticosteroid use after the patient looses ambulation. 1 AMA PRA Category 1 Credit ™
-
*Perry Shieh, MD, PhD Disease Modifying Therapies for Duchenne Muscular Dystrophy This course will review the role dystrophin deficiency plays as the underlying cause of Duchenne Muscular Dystrophy. Dr. Shieh will discuss the success and limitations of exon skipping therapies, as well as the potential benefits and risks of emerging treatments, including gene therapy strategies. 1 AMA PRA Category 1 Credit ™
-
*John Brandsema, MD Standard of Care in Duchenne Muscular Dystrophy This educational program introduces the learner to optimal standard of care for Duchenne muscular dystrophy. Dr. Brandsema reviews the DMD Care Considerations guidelines of 2010 and their revised version in 2018, outlining the 12 domains of care. The importance of surveillance is highlighted as it relates to natural history and improving outcomes. 1 AMA PRA Category 1 Credit ™
