Clinical Presentation and Diagnosis of Duchenne Muscular Dystrophy

Author(s):

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.

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EP: 1.Clinical Presentation and Diagnosis of Duchenne Muscular Dystrophy

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

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

EP: 4.Gene Therapy for Treatment of Duchenne Muscular Dystrophy

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

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

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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