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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?
Pediatric Neurology | Neurology
Pediatric Neurology | Neurology
1001 Johnson Ferry Rd, 
Atlanta, GA 
 (26.5 mi)
Languages Spoken:
English
Accepting New Patients

Han Phan is a Pediatric Neurologist and a Neurologist in Atlanta, Georgia. Dr. Phan and is rated as an Elite provider by MediFind in the treatment of Duchenne Muscular Dystrophy. Her top areas of expertise are Becker Muscular Dystrophy, Duchenne Muscular Dystrophy, Cramp-Fasciculation Syndrome, Primary Lateral Sclerosis, and Gastrostomy. Dr. Phan is currently accepting new patients.

The Emory Clinic Inc

1365 Clifton Rd Ne, 
Atlanta, GA 
 (24.3 mi)
Languages Spoken:
English
Offers Telehealth

Saila Upadhyayula is a Neurologist in Atlanta, Georgia. Dr. Upadhyayula and is rated as an Advanced provider by MediFind in the treatment of Duchenne Muscular Dystrophy. Her top areas of expertise are Paramyotonia Congenita, Myotonic Dystrophy Type 2, Myotonic Dystrophy, and Dysferlinopathy.

 
 
 
 
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Sleep Medicine | Neurology
Sleep Medicine | Neurology

The Emory Clinic Inc

1365 Clifton Rd Ne, 
Atlanta, GA 
 (24.3 mi)
Languages Spoken:
English, Mandarin, Spanish
Accepting New Patients
Offers Telehealth

Romy Hoque is a Sleep Medicine specialist and a Neurologist in Atlanta, Georgia. Dr. Hoque and is rated as an Experienced provider by MediFind in the treatment of Duchenne Muscular Dystrophy. His top areas of expertise are Restless Legs Syndrome, Drowsiness, Idiopathic Hypersomnia, Periodic Limb Movement Disorder, and Adenoidectomy. Dr. Hoque is currently accepting new patients.

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

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

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.

Who are the sources who wrote this article ?

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