Duchenne Muscular Dystrophy Overview

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Learn About Duchenne Muscular Dystrophy

What is the definition of Duchenne Muscular Dystrophy?
Duchenne muscular dystrophy (DMD) affects the muscles, leading to muscle wasting that gets worse over time. DMD occurs primarily in males, though in rare cases may affect females. The symptoms of DMD include progressive weakness and loss (atrophy) of both skeletal and heart muscle. Early signs may include delayed ability to sit, stand, or walk and difficulties learning to speak. Muscle weakness is usually noticeable in early childhood. DMD is caused by genetic changes (DNA variants) in the DMD gene. DMD is inherited in an X-linked recessive pattern and may occur in people who do not have a family history of DMD. Diagnosis of DMD is based on the symptoms, clinical exam, and the result of a biopsy to remove a small piece of muscle for examination under a microscope. The result of genetic testing may also help confirm the diagnosis. Becker muscular dystrophy (BMD), a milder form of muscular dystrophy, is also caused by genetic changes in the DMD gene.
What are the alternative names for Duchenne Muscular Dystrophy?
  • Duchenne muscular dystrophy
  • DMD
  • Muscular dystrophy, Duchenne
  • Muscular dystrophy, pseudohypertrophic progressive, Duchenne type
Who are the top Duchenne Muscular Dystrophy Local Doctors?
Dr. Oscar H. Mayer
Pediatric Pulmonology | Pediatrics | Intensive Care Medicine
Dr. Oscar H. Mayer
Pediatric Pulmonology | Pediatrics | Intensive Care Medicine
3401 Civic Center Blvd, Children's Hospital Of Philadelphia - Pulmonology, 
Philadelphia, PA 
 (21.9 mi)
215-590-3749
Languages Spoken:
English
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Oscar Mayer is a Pediatric Pulmonologist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Mayer and is rated as an Elite provider by MediFind in the treatment of Duchenne Muscular Dystrophy. His top areas of expertise are Duchenne Muscular Dystrophy, Spinal Muscular Atrophy Type 2, Spondylocostal Dysostosis, and Ellis-Van Creveld Syndrome.

Sharlene M. Day
Dr. Sharlene M. Day
Cardiology
Dr. Sharlene M. Day
Cardiology

University Of Penn - Medical Group

3400 Spruce St, 
Philadelphia, PA 
 (21.8 mi)
215-662-7355
Languages Spoken:
English
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Sharlene Day is a Cardiologist in Philadelphia, Pennsylvania. Dr. Day and is rated as an Experienced provider by MediFind in the treatment of Duchenne Muscular Dystrophy. Her top areas of expertise are Hypertrophic Cardiomyopathy (HCM), Cardiomyopathy, Familial Hypertrophic Cardiomyopathy, Orchiectomy, and Heart Transplant.

 
 
 
 
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Dr. Sameh S. Morkous
Pediatric Neurology | Neurology | Sleep Medicine
Dr. Sameh S. Morkous
Pediatric Neurology | Neurology | Sleep Medicine
160 E Erie Ave, 
Philadelphia, PA 
 (18.0 mi)
215-427-5470
Languages Spoken:
English
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Sameh Morkous is a Pediatric Neurologist and a Neurologist in Philadelphia, Pennsylvania. Dr. Morkous and is rated as an Experienced provider by MediFind in the treatment of Duchenne Muscular Dystrophy. His top areas of expertise are Seizures, Obstructive Sleep Apnea, Epilepsy, and Becker Muscular Dystrophy.

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What are the latest Duchenne Muscular Dystrophy Clinical Trials?
A Phase 1b, Open-Label, Controlled Trial Evaluating the Safety and Efficacy of SRD-001 (AAV1/SERCA2a) in Subjects With Cardiomyopathy Secondary to Duchenne Muscular Dystrophy
A Phase 1b, Open-Label, Controlled Trial Evaluating the Safety and Efficacy of SRD-001 (AAV1/SERCA2a) in Subjects With Cardiomyopathy Secondary to Duchenne Muscular Dystrophy
Enrollment Status: Recruiting
Publish Date: February 26, 2025
Intervention Type: Genetic
Study Phase: Phase 1

Summary: This research study is testing whether an experimental drug, called SRD-001, is safe and helps the weakened heart of patients with Duchenne muscular dystrophy (DMD) regain its ability to effectively pump blood to the rest of the body. SRD-001 is a form of gene therapy. The goal of SRD-001 gene therapy is to provide the heart muscle cells with extra copies of the SERCA2a gene so that they can produ...

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Establishing Walking-related Digital Biomarkers in Rare Childhood Onset Progressive Neuromuscular Disorders
Establishing Walking-related Digital Biomarkers in Rare Childhood Onset Progressive Neuromuscular Disorders
Enrollment Status: Recruiting
Publish Date: February 21, 2025

Summary: The purpose of this research is (1) to identify disease specific walking-related digital biomarkers of disease severity, and (2) monitor longitudinal changes in natural environments, for extended periods of time, in DMD and SMA.

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Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center