Diagnosis, Standard of Care and New Treatments for Duchenne Muscular Dystrophy – COMING SOON

Basil Darras, MD

Introduction, Genetics & Pathogenesis of Duchenne Muscular Dystrophy

Basil Darras, MD is the Chief of the Division of Clinical Neurology at Boston Children’s Hospital and the Joseph J. Volpe Chair in Neurology at Harvard Medical School. Dr. Darras’s special focus is in the care of children with neuromuscular conditions originating from inherited or acquired conditions of the motor unit. His research has focused on the diagnostics and therapeutics of Duchenne Muscular Dystrophy and Spinal Muscular Atrophy.

1 AMA PRA Category 1 Credit ™

To receive a Continuing Medical Education certificate, complete the pre-test, attend the presentation, complete the post-test, and the post-presentation evaluation.

John Brandsema, MD,

Clinical Features of Duchenne / Beck Muscular Dystrophy, John Brandsema, Children’s Hospital of Philadelphia, PA

John Brandsema, MD, is a Pediatric Neurologist in the Division of Neurology at Children’s Hospital of Philadelphia (CHOP). He has a special interest in treating children with neuromuscular disorders and is enthusiastic about the promise that medical and scientific advances hold for people with these conditions.

Elicia Estrella, MS, LCGC

Molecular Diagnosis of Duchenne and Becker Muscular Dystrophy, Elicia Estrella, MS, LCGC Genetic Counselor, Boston Children’s Hospital, Boston, MA

Elicia Estrella, MS, LCGC is a certified and licensed genetic counselor at Boston Children’s Hospital. She works in the Neurology Department as the Genetic Counselor/Clinic Coordinator for the neuromuscular program.

Anne M. Connolly, MD

Glucocorticoid Steroids in Duchenne Muscular Dystrophy, Anne Connolly, Nationwide Children’s Hospital, Ohio State University College of Medicine, Columbus, OH

Anne M. Connolly, MD, is Chief of the Division of Neurology at Nationwide Children’s Hospital, Professor of Pediatrics at The Ohio State University College of Medicine, and a member of the Center for Gene Therapy in the Abigail Wexner Research Institute. An internationally recognized expert in Pediatric Neuromuscular Diseases and Neuroimmunology, Dr. Connolly’s early research examined the relationship between autoantibodies and childhood neurological disorders. She also studied the natural history and effects of treatment of mouse models of Duchenne Muscular Dystrophy (DMD) and Congenital Muscular Dystrophy (CMD). She has helped develop outcome measures for infants and boys with DMD and has led or been a collaborator in numerous pivotal clinical trials in children with neuromuscular disorders.

Perry Shieh, MD, PhD,

Disease Modifying Treatments and Clinical Trials, Perry Shieh, MD, PhD, UCLA Medical Center, University of California, Los Angeles, CA

Perry Shieh, MD, PhD, is Professor of Neurology at the David Geffen School of Medicine at UCLA. He received his MD and his PhD in Neuroscience from Johns Hopkins University in Baltimore, Maryland. He completed residency training in Neurology at Stanford University Hospital and fellowship training in Clinical Neurophysiology/EMG at Brigham and Women’s Hospital. Dr. Shieh’s principal clinical interests include Duchene Muscular Dystrophy (DMD), Spinal Muscular Atrophy, Facioscapulohumeral Muscular Dystrophy (FSHD), Myotonic Dystrophy, Inflammatory Myopathy, Myasthenia Gravis, electromyography, and muscle histopathology. And he has served as an investigator in numerous clinical trials for neuromuscular conditions.

David J. Birnkrant, MD,

Standard of Care in Duchenne Muscular Dystrophy, David J Birnkrant, MD Case Western Reserve University School of Medicine, Cleveland, OH

David J. Birnkrant, MD, is Professor of Pediatrics, Case Western Reserve University School of Medicine, and Director of Pediatric Pulmonology & Student Education, MetroHealth Medical Center, Cleveland OH. He has been instrumental in developing and publishing the most recent Standard of Care Guidelines in DMD.

Kiran P. Maski, MD, MPH - (Bio)

Pediatric Narcolepsy and Therapeutic Options

Pediatric Narcolepsy has unique features and co-morbidities that can contribute to diagnostic delays and difficulties in management. In this talk, we will review unique cataplexy and daytime sleepiness presentations in children, discuss new ways for screening for pediatric narcolepsy and nocturnal sleep biomarkers that help confirm the condition, and review AASM Clinical Practice Guidelines for treatment of pediatric narcolepsy.