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: 29 May 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
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: 29 May 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 607 free, full-text research articles on human participants. First 3 results:

Psychological and practical difficulties among parents and healthy siblings of children with Duchenne vs. Becker muscular dystrophy: an Italian comparative study.
 

Author(s): Lorenza Magliano, Maria Grazia D'Angelo, Giuseppe Vita, Marika Pane, Adele D'Amico, Umberto Balottin, Corrado Angelini, Roberta Battini, Luisa Politano, Melania Patalano, Alessandra Sagliocchi, Federica Civati, Erika Brighina, Gian Luca Vita, Sonia Messina, Maria Sframeli, Maria Elena Lombardo, Roberta Scalise, Giulia Colia, Maria Catteruccia, Angela Berardinelli, Maria Chiara Motta, Alessandra Gaiani, Claudio Semplicini, Luca Bello, Guja Astrea, Antonella Zaccaro, Marianna Scutifero

Journal: Acta Myol. 2014 Dec;33(3):136-43.

 

This study explored the burden in parents and healthy siblings of 4-17 year-old patients with Duchenne (DMD) and Becker (BMD) muscular dystrophies, and whether the burden varied according to clinical aspects and social resources. Data on socio-demographic characteristics, patient's ...

Last Updated: 15 Apr 2015

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A comparative study of mPCR, MLPA, and muscle biopsy results in a cohort of children with Duchenne muscular dystrophy: a first study.
 

Author(s): M Manjunath, P Kiran, V Preethish-Kumar, A Nalini, Ravinder Jeet Singh, N Gayathri

Journal: Neurol India. ;63(1):58-62.

 

Multiplex ligation-dependant probe amplification (MLPA) is a highly sensitive and rapid alternative to multiplex polymerase chain reaction (PCR). Muscle biopsy should be reserved for mutation-negative cases.

Last Updated: 10 Mar 2015

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Is functional dependence of Duchenne muscular dystrophy patients determinant of the quality of life and burden of their caregivers?
 

Author(s): Maria Clara Drummond Soares de Moura, Hanna Camila Wutzki, Mariana Callil Voos, Maria Bernadete Dutra Resende, Umbertina Conti Reed, Renata Hydee Hasue

Journal: Arq Neuropsiquiatr. 2015 Jan;73(1):52-7.

 

The relationship between functional dependence and quality of life (QOL) in Duchenne muscular dystrophy (DMD) patients and burden and QOL in caregivers is not clear. This study investigated possible relationships between functional dependence/QOL of DMD patients and QOL/burden of caregivers.

Last Updated: 22 Jan 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 53 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: 20 May 2015

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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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