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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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 "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 1545 free, full-text research articles on human participants. First 3 results:

Muscle Weakness and Fibrosis Due to Cell Autonomous and Non-cell Autonomous Events in Collagen VI Deficient Congenital Muscular Dystrophy.
 

Author(s): Satoru Noguchi, Megumu Ogawa, May Christine Malicdan, Ikuya Nonaka, Ichizo Nishino

Journal: EBioMedicine. 2017 Feb;15():193-202.

 

Congenital muscular dystrophies with collagen VI deficiency are inherited muscle disorders with a broad spectrum of clinical presentation and are caused by mutations in one of COL6A1-3 genes. Muscle pathology is characterized by fiber size variation and increased interstitial fibrosis ...

Last Updated: 3 Jan 2017

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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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Therapeutic Strategy for Heart Failure in Becker Muscular Dystrophy.
 

Author(s): Koichi Kimura, Hiroyuki Morita, Akinori Nakamura, Katsu Takenaka, Masao Daimon

Journal: Int Heart J. 2016 Sep;57(5):527-9.

 

Last Updated: 29 Sep 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 150 free, full-text review articles on human participants. First 3 results:

Occurrence of Emery-Dreifuss muscular dystrophy in a rural setting of Cameroon: a case report and review of the literature.
 

Author(s): Cyril Jabea Ekabe, Jules Kehbila, Carlson-Babila Sama, Benjamin Momo Kadia, Martin Hongieh Abanda, Gottlieb Lobe Monekosso

Journal:

 

Emery-Dreifuss muscular dystrophy is a rare genetic muscular disease, presenting mainly with contractures, weakness and cardiac conduction abnormalities. Its clinical and laboratory similarities to other muscular dystrophies, and rarity poses diagnostic challenges, requiring a high ...

Last Updated: 10 Jan 2017

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Practice guideline update summary: Corticosteroid treatment of Duchenne muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology.
 

Author(s): David Gloss, Richard T Moxley, Stephen Ashwal, Maryam Oskoui

Journal: Neurology. 2016 Feb;86(5):465-72.

 

To update the 2005 American Academy of Neurology (AAN) guideline on corticosteroid treatment of Duchenne muscular dystrophy (DMD).

Last Updated: 2 Feb 2016

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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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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: 1 Feb 2017

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Last Updated: 14 Feb 2017

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