Muscular dystrophy

Common Name(s)

Muscular dystrophy

Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medications including corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weakness or a pacemaker for cardiac (heart) abnormalities.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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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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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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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 "Muscular dystrophy" for support, advocacy or research.

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

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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

http://www.mdachina.org

Last Updated: 21 May 2010

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

 

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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 "Muscular dystrophy" returned 1652 free, full-text research articles on human participants. First 3 results:

A case report: Becker muscular dystrophy presenting with epilepsy and dysgnosia induced by duplication mutation of Dystrophin gene.
 

Author(s): Jing Miao, Jia-Chun Feng, Dan Zhu, Xue-Fan Yu

Journal:

 

Becker muscular dystrophy (BMD), a genetic disorder of X-linked recessive inheritance, typically presents with gradually progressive muscle weakness. The condition is caused by mutations of Dystrophin gene located at Xp21.2. Epilepsy is an infrequent manifestation of BMD, while cases ...

Last Updated: 13 Dec 2016

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Muscular Dystrophy Drug Could Pave Way for RNA Medications.
 

Author(s): Thomas Morrow

Journal: Manag Care. 2016 Apr;25(4):30-2.

 

Last Updated: 7 Jun 2016

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Early Marker of Myocardial Deformation in Children with Duchenne Muscular Dystrophy Assessed Using Echocardiographic Myocardial Strain Analysis.
 

Author(s): Won Ha Jo, Lucy Youngmin Eun, Jo Won Jung, Jae Young Choi, Seung Woong Gang

Journal: Yonsei Med. J.. 2016 Jul;57(4):900-4.

 

As cardiomyopathy is more prevalent and currently the leading cause of death in Duchenne muscular dystrophy (DMD), early detection of myocardial involvement is important. The purpose of this study was to analyze myocardial strain in DMD children, for the possibility of early detection ...

Last Updated: 18 May 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 "Muscular dystrophy" returned 156 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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Metabogenic and Nutriceutical Approaches to Address Energy Dysregulation and Skeletal Muscle Wasting in Duchenne Muscular Dystrophy.
 

Author(s): Emma Rybalka, Cara A Timpani, Christos G Stathis, Alan Hayes, Matthew B Cooke

Journal:

 

Duchenne Muscular Dystrophy (DMD) is a fatal genetic muscle wasting disease with no current cure. A prominent, yet poorly treated feature of dystrophic muscle is the dysregulation of energy homeostasis which may be associated with intrinsic defects in key energy systems and promote ...

Last Updated: 25 Dec 2015

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Absence of Dystrophin Disrupts Skeletal Muscle Signaling: Roles of Ca2+, Reactive Oxygen Species, and Nitric Oxide in the Development of Muscular Dystrophy.
 

Author(s): David G Allen, Nicholas P Whitehead, Stanley C Froehner

Journal: Physiol. Rev.. 2016 Jan;96(1):253-305.

 

Dystrophin is a long rod-shaped protein that connects the subsarcolemmal cytoskeleton to a complex of proteins in the surface membrane (dystrophin protein complex, DPC), with further connections via laminin to other extracellular matrix proteins. Initially considered a structural ...

Last Updated: 17 Dec 2015

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Stem Cell Therapy in Muscular Dystrophy
 

Status: Recruiting

Condition Summary: Muscular Dystrophy

 

Last Updated: 23 Sep 2016

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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: 9 Jan 2017

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Last Updated: 6 Jan 2017

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