News
Media
Conferences
CME/CE
Partners
Publications
Resources
Subscribe

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.

Newsletter

Keep your finger on the pulse of neurology—subscribe to NeurologyLive for expert interviews, new data, and breakthrough treatment updates.

Related Content

Inside the 2026 MDA Conference: Keynote Insights and Evolving Neuromuscular Care

ByMarco Meglio,Sharon Hesterlee, PhD

December 8th 2025

This Week on NeurologyLive® — December 8, 2025

ByIsabella Ciccone, MPH

December 8th 2025

NeurologyLive® Friday 5 — December 5, 2025

ByIsabella Ciccone, MPH

December 5th 2025

Expanding Neurology Care in South Miami: Peter Abdelmalik’s Vision

ByMarco Meglio,Peter Abdelmalik, MD

December 1st 2025

This Week on NeurologyLive® — December 1, 2025

ByIsabella Ciccone, MPH

December 1st 2025

Latest CME

Cases and Conversations™: Navigating the Complexities of Managing Myasthenia Gravis in Pediatric and Pregnant Patient Populations

Cases and Conversations™: Navigating the Complexities of Managing Myasthenia Gravis in Pediatric and Pregnant Patient Populations

John Brandsema, MD; Neelam Goyal, MD

Identifying and Treating CIDP in the Modern Era

Identifying and Treating CIDP in the Modern Era

Jeffrey A. Allen, MD; Karissa L. Gable, MD

Cases and Conversations™: Little Voices, Big Challenges – Comprehensive Care for Pediatric Spinal Muscular Atrophy

Cases and Conversations™: Little Voices, Big Challenges – Comprehensive Care for Pediatric Spinal Muscular Atrophy

John Brandsema, MD; Carla D. Zingariello, DO

From Suspicion to Stabilization: Early Recognition and Treatment of Paraneoplastic LEMS

From Suspicion to Stabilization: Early Recognition and Treatment of Paraneoplastic LEMS

Charu Aggarwal, MD, MPH, FASCO; Erminia Massarelli, MD, PhD, MS; Ruham Nasany, MD

A Breath of Strength: Managing Cancer Associated LEMS and Lung Cancer as One

A Breath of Strength: Managing Cancer Associated LEMS and Lung Cancer as One

Estelamari Rodriguez, MD, MPH; Millie Das, MD; Ruham Nasany, MD

Striking the Right Nerve: Managing Cancer Associated LEMS in Lung Cancer Patients

Striking the Right Nerve: Managing Cancer Associated LEMS in Lung Cancer Patients

Anne Chiang, MD, PhD; J. Douglas Miles, MD, PhD, FAAN; Suma Satti, MD

Patient, Provider, and Caregiver Connection: Improving Diagnosis and Care for Adolescent Myasthenia Gravis Patients – A New Frontier

Patient, Provider, and Caregiver Connection: Improving Diagnosis and Care for Adolescent Myasthenia Gravis Patients – A New Frontier

Abigail N. Schwaede, MD; Emmanuelle (Noelle) Tiongson, MD

A New Era in NMOSD Treatment: Optimizing Therapeutic Transitions and Reducing Patient Burden

A New Era in NMOSD Treatment: Optimizing Therapeutic Transitions and Reducing Patient Burden

Shamik Bhattacharyya, MD, MS, FAAN; Mirla Avila, MD; Dean Wingerchuk, MD

PER Podcast™: Maximizing the Multidisciplinary Care Outcomes of Patients with Amyotrophic Lateral Sclerosis (ALS)

PER Podcast™: Maximizing the Multidisciplinary Care Outcomes of Patients with Amyotrophic Lateral Sclerosis (ALS)

Richard Bedlack, MD, PhD

PER Podcast™: Best Strategies for Approaching the Diagnosis of Amyotrophic Lateral Sclerosis (ALS)

PER Podcast™: Best Strategies for Approaching the Diagnosis of Amyotrophic Lateral Sclerosis (ALS)

Terry Heiman-Patterson, MD

PER Postgame™: Updates from ANNA in the Management of IgA Nephropathy

PER Postgame™: Updates from ANNA in the Management of IgA Nephropathy

Gerald Bernard Appel, MD; Ellie Kelepouris, MD, FACP, FAHA

Patient, Provider, and Caregiver Connection: Turning a New Leaf in Acute Pain Management – How Recent Advancements Impact the Treatment Paradigm

Patient, Provider, and Caregiver Connection: Turning a New Leaf in Acute Pain Management – How Recent Advancements Impact the Treatment Paradigm

Jeffrey Gudin, MD; Jeffrey Bettinger, PharmD

Shining a Light on an Ultra-Rare Disease – A Closer Look at Thymidine Kinase 2 Deficiency (TK2d)

Shining a Light on an Ultra-Rare Disease – A Closer Look at Thymidine Kinase 2 Deficiency (TK2d)

Zarazuela Zolkipli-Cunningham, MBChB, MRCP; Mary Kay Koenig, MD; Perry Shieh, MD, PhD, FAAN, FANA

Addressing Unmet Needs for Patients With Spinal Muscular Atrophy—Understanding Patient Challenges and Management Approaches

Addressing Unmet Needs for Patients With Spinal Muscular Atrophy—Understanding Patient Challenges and Management Approaches

Basil T. Darras, MD

Expert Illustrations & Commentaries™: Visualizing the Role of Dystrophin Dysregulation as a Therapeutic Target in Duchenne Muscular Dystrophy and MD STARnet

Expert Illustrations & Commentaries™: Visualizing the Role of Dystrophin Dysregulation as a Therapeutic Target in Duchenne Muscular Dystrophy and MD STARnet

Anne M. Connolly, MD, FAAN; Amy Moore, PhD

Identifying and Treating Generalized Myasthenia Gravis in the Modern Era

Identifying and Treating Generalized Myasthenia Gravis in the Modern Era

James F. Howard Jr, MD, FAAN

Rewiring Recovery: Evidence-Based Approaches to Managing Chronic Inflammatory Demyelinating Polyneuropathy

Rewiring Recovery: Evidence-Based Approaches to Managing Chronic Inflammatory Demyelinating Polyneuropathy

Karissa Gable, MD

Putting the Patient First in Acute Pain Management: The PA’s Guide to Incorporating Cutting-Edge Science Into Their Treatment Strategies

Putting the Patient First in Acute Pain Management: The PA’s Guide to Incorporating Cutting-Edge Science Into Their Treatment Strategies

Jessica Oswald, MD, MPH; Jeremy A. Adler, DMSc, PA-C; Amanda Nasser, MS, NP

Expert Illustrations & Commentaries™: Visualizing the Role of B Cells as Therapeutic Targets for Generalized Myasthenia Gravis

Expert Illustrations & Commentaries™: Visualizing the Role of B Cells as Therapeutic Targets for Generalized Myasthenia Gravis

James F. Howard Jr, MD, FAAN; Katherine Ruzhansky, MD, MS

Trending on NeurologyLive - Clinical Neurology News and Neurology Expert Insights

Overviewing Promising Phase 1/2 Data of Gene Therapy ETX101 in Dravet Syndrome: Joseph Sullivan, MD

US Survey Reveals Underuse of Dravet Syndrome–Specific Antiseizure Medications in the Clinic

Dravet Syndrome Medication Stiripentol Effective in Real World Settings Across Various Patient Profiles

AES Poster Lays Insights Into EEG and MRI Biomarkers of MOGAD-Related Epilepsy

AES Presentations Highlight Zorevunersen as Disease-Modifying Treatment for Dravet Syndrome

© 2025 MJH Life Sciences^®

All rights reserved.