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?

Privately answer questions about your health. Let resources, you select, come to you.

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

Can radial bone mineral density predict spinal bone mineral density in patients with advanced Duchenne muscular dystrophy?
 

Author(s): Eunyoung Kim, Han Eol Cho, Ji Ho Jung, Jang Woo Lee, Won Ah Choi, Seong-Woong Kang

Journal: Medicine (Baltimore). 2018 Oct;97(40):e12303.

 

In advanced Duchenne muscular dystrophy (DMD), patients with high bone fracture risk due to osteoporosis, it is difficult to measure spinal bone mineral density (BMD) because of maintaining proper posture. This study began with the idea that if we diagnose and manage osteoporosis ...

Last Updated: 31 Dec 1969

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Mutation spectrum analysis of Duchenne/Becker muscular dystrophy in 68 families in Kuwait: The era of personalized medicine.
 

Author(s): Fawziah Mohammed, Alaa Elshafey, Haya Al-Balool, Hayat Alaboud, Mohammed Al Ben Ali, Adel Baqer, Laila Bastaki

Journal:

 

Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked recessive neuromuscular disorders characterized by progressive irreversible muscle weakness and atrophy that affect both skeletal and cardiac muscles. DMD/BMD is caused by mutations in the Dystrophin gene on the X chromosome, ...

Last Updated: 31 Dec 1969

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Multi-slice MRI reveals heterogeneity in disease distribution along the length of muscle in Duchenne muscular dystrophy.
 

Author(s): Stephen M Chrzanowski, Celine Baligand, Rebecca J Willcocks, Jasjit Deol, Ilona Schmalfuss, Donovan J Lott, Michael J Daniels, Claudia Senesac, Glenn A Walter, Krista Vandenborne

Journal:

 

Duchenne muscular dystrophy (DMD) causes progressive pathologic changes to muscle secondary to a cascade of inflammation, lipid deposition, and fibrosis. Clinically, this manifests as progressive weakness, functional loss, and premature mortality. Though insult to whole muscle groups ...

Last Updated: 31 Dec 1969

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

Brazilian consensus on Duchenne muscular dystrophy. Part 2: rehabilitation and systemic care.
 

Author(s): Alexandra P Q C Araujo, Flavia Nardes, Clarisse P D D Fortes, Jaqueline A Pereira, Marcos F Rebel, Cristina M Dias, Rita de Cassia G A Barbosa, Mauro V R Lopes, Ana Lucia Langer, Flavio R Neves, Edna Fátima Reis

Journal: Arq Neuropsiquiatr. 2018 Jul;76(7):481-489.

 

Significant advances in the understanding and management of Duchenne muscular dystrophy (DMD) have occurred since the publication of international guidelines for DMD care in 2010. Our objective was to provide an evidence-based national consensus statement for multidisciplinary care ...

Last Updated: 31 Dec 1969

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Skeletal Muscle Metabolism in Duchenne and Becker Muscular Dystrophy-Implications for Therapies.
 

Author(s): Ahlke Heydemann

Journal:

 

The interactions between nutrition and metabolism and skeletal muscle have long been known. Muscle is the major metabolic organ—it consumes more calories than other organs—and therefore, there is a clear need to discuss these interactions and provide some direction for ...

Last Updated: 31 Dec 1969

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Development of Exon Skipping Therapies for Duchenne Muscular Dystrophy: A Critical Review and a Perspective on the Outstanding Issues.
 

Author(s): Annemieke Aartsma-Rus, Volker Straub, Robert Hemmings, Manuel Haas, Gabriele Schlosser-Weber, Violeta Stoyanova-Beninska, Eugenio Mercuri, Francesco Muntoni, Bruno Sepodes, Elizabeth Vroom, Pavel Balabanov

Journal: Nucleic Acid Ther. 2017 Oct;27(5):251-259.

 

Duchenne muscular dystrophy (DMD) is a rare, severe, progressive muscle-wasting disease leading to disability and premature death. Patients lack the muscle membrane-stabilizing protein dystrophin. Antisense oligonucleotide (AON)-mediated exon skipping is a therapeutic approach that ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Gene Transfer Clinical Trial to Deliver rAAVrh74.MCK.GALGT2 for Duchenne Muscular Dystrophy
 

Status: Recruiting

Condition Summary: Duchenne Muscular Dystrophy

 

Last Updated: 1 May 2018

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An Open-label Extension Study To Evaluate Safety Of PF-06252616 In Boys With Duchenne Muscular Dystrophy
 

Status: Recruiting

Condition Summary: Duchenne Muscular Dystrophy

 

Last Updated: 7 Nov 2018

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A Study to Assess the Efficacy and Safety of Vamorolone in Boys With Duchenne Muscular Dystrophy (DMD)
 

Status: Recruiting

Condition Summary: Duchenne Muscular Dystrophy

 

Last Updated: 1 Nov 2018

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