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 738 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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Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: An Observational Study.
 

Author(s): Elena S Mazzone, Giorgia Coratti, Maria Pia Sormani, Sonia Messina, Marika Pane, Adele D'Amico, Giulia Colia, Lavinia Fanelli, Angela Berardinelli, Alice Gardani, Valentina Lanzillotta, Paola D'Ambrosio, Roberta Petillo, Filippo Cavallaro, Silvia Frosini, Luca Bello, Serena Bonfiglio, Roberto De Sanctis, Enrica Rolle, Nicola Forcina, Francesca Magri, Gianluca Vita, Concetta Palermo, Maria Alice Donati, Elena Procopio, Maria Teresa Arnoldi, Giovanni Baranello, Tiziana Mongini, Antonella Pini, Roberta Battini, Elena Pegoraro, Yvan Torrente, Stefano C Previtali, Claudio Bruno, Luisa Politano, Giacomo P Comi, Maria Grazia D'Angelo, Enrico Bertini, Eugenio Mercuri

Journal:

 

The role of timed items, and more specifically, of the time to rise from the floor, has been reported as an early prognostic factor for disease progression and loss of ambulation. The aim of our study was to investigate the possible effect of the time to rise from the floor test on ...

Last Updated: 17 Mar 2016

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Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies.
 

Author(s): Narinder Janghra, Jennifer E Morgan, Caroline A Sewry, Francis X Wilson, Kay E Davies, Francesco Muntoni, Jonathon Tinsley

Journal:

 

Duchenne muscular dystrophy is a severe and currently incurable progressive neuromuscular condition, caused by mutations in the DMD gene that result in the inability to produce dystrophin. Lack of dystrophin leads to loss of muscle fibres and a reduction in muscle mass and function. ...

Last Updated: 15 Mar 2016

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

The importance of genetic diagnosis for Duchenne muscular dystrophy.
 

Author(s): Annemieke Aartsma-Rus, Ieke B Ginjaar, Kate Bushby

Journal: J. Med. Genet.. 2016 Mar;53(3):145-51.

 

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy are caused by mutations in the dystrophin-encoding DMD gene. Large deletions and duplications are most common, but small mutations have been found as well. Having a correct diagnosis is important for family planning and ...

Last Updated: 25 Feb 2016

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Duchenne Muscular Dystrophy: From Diagnosis to Therapy.
 

Author(s): Maria Sofia Falzarano, Chiara Scotton, Chiara Passarelli, Alessandra Ferlini

Journal:

 

Duchenne muscular dystrophy (DMD) is an X-linked inherited neuromuscular disorder due to mutations in the dystrophin gene. It is characterized by progressive muscle weakness and wasting due to the absence of dystrophin protein that causes degeneration of skeletal and cardiac muscle. ...

Last Updated: 13 Oct 2015

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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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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: 22 Aug 2016

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