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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LGMD-diagnosis.org

LGMD-diagnosis.org is sponsored by a consortium of family foundations that each focus on a separate form of LGMD. By coming together and pooling resources, the consortium foundations are rapidly and efficiently diagnosing many patients. The consortium includes the Cecil B Day Family, Inc (LGMD2B), Coalition to Cure Calpain 3 (LGMD2A), Jain Foundation (LGMD2B), Kurt + Peter Foundation (LGMD2C), LGMD2D Foundation, LGMD2I Fund, and McColl-Lockwood Laboratory (LGMD2I).

Last Updated: 22 May 2015

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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: 15 Jul 2015

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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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Thisbe and Noah Scott Foundation, Inc.

It is the mission of the Thisbe and Noah Scott Foundation, Inc. to save lives by promoting research, awareness and support for children and families affected by pediatric neuromuscular diseases.

Last Updated: 19 May 2015

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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

View Details
Logo
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
LGMD-diagnosis.org

LGMD-diagnosis.org is sponsored by a consortium of family foundations that each focus on a separate form of LGMD. By coming together and pooling resources, the consortium foundations are rapidly and efficiently diagnosing many patients. The consortium includes the Cecil B Day Family, Inc (LGMD2B), Coalition to Cure Calpain 3 (LGMD2A), Jain Foundation (LGMD2B), Kurt + Peter Foundation (LGMD2C), LGMD2D Foundation, LGMD2I Fund, and McColl-Lockwood Laboratory (LGMD2I).

https://www.lgmd-diagnosis.org

Last Updated: 22 May 2015

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: 15 Jul 2015

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
Thisbe and Noah Scott Foundation, Inc.

It is the mission of the Thisbe and Noah Scott Foundation, Inc. to save lives by promoting research, awareness and support for children and families affected by pediatric neuromuscular diseases.

http://www.thisbeandnoah.org/

Last Updated: 19 May 2015

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 726 free, full-text research articles on human participants. First 3 results:

Echocardiography versus (201)Tl semi-quantitative gated single photon emission tomography for the evaluation of cardiac disease associated with late stage Duchenne muscular dystrophy.
 

Author(s): Atsushi Fujita, Hajime Arahata, Miwa Sugawara, Akihiro Watanabe, Yuji Kawano, Naokazu Sasagasako, Naoki Fujii

Journal: Hell J Nucl Med. ;19(1):19-22.

 

In Duchenne muscular dystrophy (DMD) patients cardiac abnormalities are often detected. In adult DMD patients cardiac disease (CD) is a cause of death which increases by age and is related to respiratory dysfunction. Studies have demonstrated that CD in early DMD can be detected by ...

Last Updated: 2 Apr 2016

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Generation of Induced Pluripotent Stem Cells From Patients With Duchenne Muscular Dystrophy and Their Induction to Cardiomyocytes.
 

Author(s): Akihito Hashimoto, Atsuhiko T Naito, Jong-Kook Lee, Rika Kitazume-Taneike, Masamichi Ito, Toshihiro Yamaguchi, Ryo Nakata, Tomokazu Sumida, Katsuki Okada, Akito Nakagawa, Tomoaki Higo, Yuki Kuramoto, Taku Sakai, Koji Tominaga, Takeshi Okinaga, Shigetoyo Kogaki, Keiichi Ozono, Shigeru Miyagawa, Yoshiki Sawa, Yasushi Sakata, Hiroyuki Morita, Akihiro Umezawa, Issei Komuro

Journal: Int Heart J. 2016 ;57(1):112-7.

 

Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene which encodes dystrophin protein. Dystrophin defect affects cardiac muscle as well as skeletal muscle. Cardiac dysfunction is observed in all patients with DMD over 18 years of age, but there is no curative treatment ...

Last Updated: 19 Jan 2016

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Glucocorticoids enhance muscle endurance and ameliorate Duchenne muscular dystrophy through a defined metabolic program.
 

Author(s): Alexander Morrison-Nozik, Priti Anand, Han Zhu, Qiming Duan, Mohamad Sabeh, Domenick A Prosdocimo, Madeleine E Lemieux, Nikolai Nordsborg, Aaron P Russell, Calum A MacRae, Anthony N Gerber, Mukesh K Jain, Saptarsi M Haldar

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2015 Dec;112(49):E6780-9.

 

Classic physiology studies dating to the 1930s demonstrate that moderate or transient glucocorticoid (GC) exposure improves muscle performance. The ergogenic properties of GCs are further evidenced by their surreptitious use as doping agents by endurance athletes and poorly understood ...

Last Updated: 9 Dec 2015

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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 64 free, full-text review articles on human participants. First 3 results:

Current understanding of molecular pathology and treatment of cardiomyopathy in duchenne muscular dystrophy.
 

Author(s): Tirsa L E van Westering, Corinne A Betts, Matthew J A Wood

Journal:

 

Duchenne muscular dystrophy (DMD) is a genetic muscle disorder caused by mutations in the Dmd gene resulting in the loss of the protein dystrophin. Patients do not only experience skeletal muscle degeneration, but also develop severe cardiomyopathy by their second decade, one of the ...

Last Updated: 20 May 2015

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[Advance in therapy for Duchenne/Becker muscular dystrophy].
 

Author(s): Tian-Tian Xu, Dan Lan

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2015 Mar;17(3):294-8.

 

Duchenne/Becker muscular dystrophy (DMD/BMD) is the most common X-linked recessive inherited neuromuscular disease, characterized by progressive muscle weakness. Mutations in the dystrophin gene are responsible for this disease. Treatment for this disease has always been a topic of ...

Last Updated: 30 Mar 2015

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Duchenne muscular dystrophy gene therapy in the canine model.
 

Author(s): Dongsheng Duan

Journal: Hum Gene Ther Clin Dev. 2015 Mar;26(1):57-69.

 

Duchenne muscular dystrophy (DMD) is an X-linked lethal muscle disease caused by dystrophin deficiency. Gene therapy has significantly improved the outcome of dystrophin-deficient mice. Yet, clinical translation has not resulted in the expected benefits in human patients. This translational ...

Last Updated: 17 Mar 2015

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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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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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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Study of DS-5141b in Patients With Duchenne Muscular Dystrophy
 

Status: Recruiting

Condition Summary: Duchenne Muscular Dystrophy

 

Last Updated: 19 Feb 2016

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