Duchenne muscular dystrophy

Common Name(s)

Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) is a genetic condition that causes progressive muscle weakness and a decrease in the amount of muscle tissue (atrophy). DMD is the most common type of muscular dystrophy and typically affects males. DMD occurs when a person inherits a change (mutation) in the gene that makes dystrophin, a protein that protects muscle tissue. Signs and symptoms typically begin to show during childhood and may include frequent falls, difficulty getting up from a lying or sitting position, trouble running or jumping, walking on toes, large calf muscles, muscle pain and stiffness, and learning disabilities. As the disease progresses, children may have trouble breathing and swallowing, may lose the ability to walk or sit up, and are typically wheelchair dependent in their teens. Another symptom of DMD is weakness of the heart muscle (cardiomyopathy), which may cause shortness of breath, abnormal heartbeat (arrhythmia), and extreme tiredness (fatigue).

DMD is inherited in an X-linked recessive pattern. Males have one copy of the DMD gene while females have two copies. Males who have a mutation in their only copy of the gene have the condition, while females with a mutation in one of their two copies typically do not. In order to diagnose this condition, your doctor will take a detailed medical history, perform a physical exam, and likely perform one of many possible tests, which can include collecting and examining a small piece of muscle tissue (muscle biopsy), measuring electrical activity in your muscles (electromyography), measuring the amount of CK enzyme in your blood, as well as monitoring the heart and lungs. DMD gene testing is typically needed to confirm the diagnosis. Unfortunately, there is no cure for DMD. This is a very serious condition and if your child has this diagnosis, it is helpful to speak with a doctor, genetic counselor, or therapist to gain additional information and support.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Duchenne muscular dystrophy" for support, advocacy or research.

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Charley's Fund, Inc.

Charley's Fund directs money into the hands of researchers who have the best shot at developing treatments or a cure for Duchenne Muscular Dystrophy. Our goal is to save Charley's life and the lives of thousands of boys like him around the world.

Last Updated: 26 Mar 2013

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Coalition Duchenne

The mission of Coalition Duchenne is to raise global awareness for Duchenne muscular dystrophy, to fund research, and to find a cure for Duchenne. Coalition Duchenne is focused on funding cardiac and pulmonary initiatives.

Last Updated: 11 Mar 2013

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CureDuchenne

CureDuchenne is a nonprofit that raises awareness and funds research to find a cure for Duchenne muscular dystrophy. CureDuchenne has the leading scientists in the world helping to determine the most viable research projects, accelerate the clinical trial process and bring potential life-saving drugs to help this generation of Duchenne boys. Our vision is our name...to cure Duchenne muscular dystrophy. Our mission is to save this generation of Duchenne boys.

Last Updated: 5 Mar 2013

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Foundation to Eradicate Duchenne

The goal of the Foundation to Eradicate Duchenne (FED) is to find treatments, and ultimately, a cure for Duchenne Muscular Dystrophy, the world’s leading lethal childhood genetic disease.

Last Updated: 15 Mar 2013

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Muscular Dystrophy Association

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

Last Updated: 8 Mar 2010

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Neuromuscular Disease Association of China

There are over 40 different types of Muscular Dystrophy and related Neuromuscular conditions.These conditions are characterised by loss of muscular strength,as progressive muscle wasting or nerve

Last Updated: 21 May 2010

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Parent Project Muscular Dystrophy

Parent Project Muscular Dystrophy’s mission is to end Duchenne. We accelerate research, raise our voices in Washington, demand optimal care for all young men, and educate the global community.

Last Updated: 15 Nov 2012

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werathah

To provide support and health education to patients and their families with genetic and congenital disorders

Last Updated: 1 May 2013

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Duchenne muscular dystrophy" for support, advocacy or research.

Logo
Charley's Fund, Inc.

Charley's Fund directs money into the hands of researchers who have the best shot at developing treatments or a cure for Duchenne Muscular Dystrophy. Our goal is to save Charley's life and the lives of thousands of boys like him around the world.

http://www.charleysfund.org

Last Updated: 26 Mar 2013

View Details
Coalition Duchenne

The mission of Coalition Duchenne is to raise global awareness for Duchenne muscular dystrophy, to fund research, and to find a cure for Duchenne. Coalition Duchenne is focused on funding cardiac and pulmonary initiatives.

http://www.coalitionduchenne.org

Last Updated: 11 Mar 2013

View Details
CureDuchenne

CureDuchenne is a nonprofit that raises awareness and funds research to find a cure for Duchenne muscular dystrophy. CureDuchenne has the leading scientists in the world helping to determine the most viable research projects, accelerate the clinical trial process and bring potential life-saving drugs to help this generation of Duchenne boys. Our vision is our name...to cure Duchenne muscular dystrophy. Our mission is to save this generation of Duchenne boys.

http://www.cureduchenne.org

Last Updated: 5 Mar 2013

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Foundation to Eradicate Duchenne

The goal of the Foundation to Eradicate Duchenne (FED) is to find treatments, and ultimately, a cure for Duchenne Muscular Dystrophy, the world’s leading lethal childhood genetic disease.

http://www.duchennemd.org

Last Updated: 15 Mar 2013

View Details
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Muscular Dystrophy Association

MDA is the nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research. The Association also provides comprehensive health care and support services, advocacy and education.

http://www.mdausa.org

Last Updated: 8 Mar 2010

View Details
Neuromuscular Disease Association of China

There are over 40 different types of Muscular Dystrophy and related Neuromuscular conditions.These conditions are characterised by loss of muscular strength,as progressive muscle wasting or nerve

http://www.mdachina.org

Last Updated: 21 May 2010

View Details
Parent Project Muscular Dystrophy

Parent Project Muscular Dystrophy’s mission is to end Duchenne. We accelerate research, raise our voices in Washington, demand optimal care for all young men, and educate the global community.

http://www.parentprojectmd.org

Last Updated: 15 Nov 2012

View Details
werathah

To provide support and health education to patients and their families with genetic and congenital disorders

http://www.werathah.com

Last Updated: 1 May 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
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General Resources

Duchenne Muscular Dystrophy Infographic

A visual representation of Duchenne muscular dystrophy and its impact on the body. It also provides information on CureDuchenne's comprehensive research strategy.

Uploaded By: CureDuchenne

Updated 5 Mar 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Duchenne muscular dystrophy" returned 593 free, full-text research articles on human participants. First 3 results:

Asynchronous remodeling is a driver of failed regeneration in Duchenne muscular dystrophy.
 

Author(s): Sherry Dadgar, Zuyi Wang, Helen Johnston, Akanchha Kesari, Kanneboyina Nagaraju, Yi-Wen Chen, D Ashley Hill, Terence A Partridge, Mamta Giri, Robert J Freishtat, Javad Nazarian, Jianhua Xuan, Yue Wang, Eric P Hoffman

Journal: J. Cell Biol.. 2014 Oct;207(1):139-58.

 

We sought to determine the mechanisms underlying failure of muscle regeneration that is observed in dystrophic muscle through hypothesis generation using muscle profiling data (human dystrophy and murine regeneration). We found that transforming growth factor β-centered networks ...

Last Updated: 14 Oct 2014

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Improving recognition of Duchenne muscular dystrophy: a retrospective case note review.
 

Author(s): Henriette J A van Ruiten, Volker Straub, Kate Bushby, Michela Guglieri

Journal: Arch. Dis. Child.. 2014 Dec;99(12):1074-7.

 

Over the last 30 years, there has been little improvement in the age of diagnosis of Duchenne muscular dystrophy (DMD) (mean age of 4.5-4.11 years).

Last Updated: 14 Nov 2014

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Patterns of late gadolinium enhancement in Duchenne muscular dystrophy carriers.
 

Author(s): Vincenzo Giglio, Paolo Emilio Puddu, Giovanni Camastra, Stefano Sbarbati, Sabino Walter Della Sala, Alessandra Ferlini, Francesca Gualandi, Enzo Ricci, Federico Sciarra, Gerardo Ansalone, Marco Di Gennaro

Journal:

 

This study was designed to assess whether cardiovascular magnetic resonance imaging (CMR) in Duchenne muscular dystrophy carriers (DMDc) may index any cell milieu elements of LV dysfunction and whether this cardiac phenotype may be related to genotype. The null hypothesis was that ...

Last Updated: 15 Jul 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Duchenne muscular dystrophy" returned 54 free, full-text review articles on human participants. First 3 results:

Duchenne muscular dystrophy.
 

Author(s): Ellen J Annexstad, Inger Lund-Petersen, Magnhild Rasmussen

Journal:

 

Duchenne muscular dystrophy is one of the most severe muscle diseases to affect children. In the last twenty years, treatments have been established that have significantly improved patients' quality of life and life expectancy. The purpose of this article is to outline the main features ...

Last Updated: 6 Aug 2014

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Pharmacologic management of Duchenne muscular dystrophy: target identification and preclinical trials.
 

Author(s): Joe N Kornegay, Christopher F Spurney, Peter P Nghiem, Candice L Brinkmeyer-Langford, Eric P Hoffman, Kanneboyina Nagaraju

Journal: ILAR J. 2014 ;55(1):119-49.

 

Duchenne muscular dystrophy (DMD) is an X-linked human disorder in which absence of the protein dystrophin causes degeneration of skeletal and cardiac muscle. For the sake of treatment development, over and above definitive genetic and cell-based therapies, there is considerable interest ...

Last Updated: 17 Jun 2014

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Understanding the process of fibrosis in Duchenne muscular dystrophy.
 

Author(s): Yacine Kharraz, Joana Guerra, Patrizia Pessina, Antonio L Serrano, Pura Muñoz-Cánoves

Journal: Biomed Res Int. 2014 ;2014():965631.

 

Fibrosis is the aberrant deposition of extracellular matrix (ECM) components during tissue healing leading to loss of its architecture and function. Fibrotic diseases are often associated with chronic pathologies and occur in a large variety of vital organs and tissues, including ...

Last Updated: 30 May 2014

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Stem Cell Therapy in Duchenne Muscular Dystrophy
 

Status: Recruiting

Condition Summary: Duchenne Muscular Dystrophy

 

Last Updated: 12 Sep 2014

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Sunphenon Epigallocatechin-Gallate (EGCg) in Duchenne Muscular Dystrophy
 

Status: Recruiting

Condition Summary: Duchenne Muscular Dystrophy

 

Last Updated: 22 Sep 2014

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Study Safety and Efficacy of BMMNC for the Patient With Duchenne Muscular Dystrophy
 

Status: Recruiting

Condition Summary: Muscular Dystrophy; Duchenne Muscular Dystrophy

 

Last Updated: 16 Sep 2014

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