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Opinion|Videos|June 26, 2024

Clinical Presentation and Diagnosis of Duchenne Muscular Dystrophy

Author(s)Emma Ciafaloni, MD

Emma Ciafaloni, MD, provides an overview of the clinical presentation and diagnosis of Duchenne muscular dystrophy (DMD), highlighting the role of CK testing and the pathophysiology of the disorder.

Episodes in this series

Emma Ciafaloni, MD, an expert on Duchenne muscular dystrophy

EP. 1 Clinical Presentation and Diagnosis of Duchenne Muscular Dystrophy

Emma Ciafaloni, MD, an expert on Duchenne muscular dystrophy

EP. 2 Communication of Duchenne Muscular Dystrophy Diagnosis and Coordination of Care

Emma Ciafaloni, MD, an expert on Duchenne muscular dystrophy

EP. 3 Current and Emerging Treatment Options and Management of Duchenne Muscular Dystrophy

Emma Ciafaloni, MD, an expert on Duchenne muscular dystrophy

EP. 4 Gene Therapy for Treatment of Duchenne Muscular Dystrophy

Emma Ciafaloni, MD, an expert on Duchenne muscular dystrophy

EP. 5 Targeting Pathways Downstream of Dystrophin: Vamorolone and Givinostat in Duchenne Muscular Dystrophy

Emma Ciafaloni, MD, an expert on Duchenne muscular dystrophy

EP. 6 Improvement in Management of Duchenne Muscular Dystrophy in Recent Years

Emma Ciafaloni, MD, an expert on Duchenne muscular dystrophy

EP. 7 Multidisciplinary Care in Duchenne Muscular Dystrophy

Video content above is prompted by the following question(s):

Please describe clinical presentation and pathophysiology of Duchenne muscular dystrophy (DMD). How is DMD diagnosed?
Please explain the genetic basis of DMD, the most common hereditary neuromuscular disease.

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