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: 8 Mar 2010

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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: 8 Mar 2010

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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 1241 free, full-text research articles on human participants. First 3 results:

The NIH Office of Rare Diseases Research patient registry Standard: a report from the University of New Mexico's Oculopharyngeal Muscular Dystrophy Patient Registry.
 

Author(s): Shamsi Daneshvari, Sarah Youssof, Philip J Kroth

Journal:

 

Patient registries remove barriers to performing research by assembling patient cohorts and data in a systematic, efficient, and proactive manner. Consequently, registries are a valuable strategy for facilitating research and scientific discovery. Registries for rare diseases are ...

Last Updated: 19 Feb 2014

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Oculopharyngeal muscular dystrophy among Bulgarian Jews: a new cluster?
 

Author(s): Sergiu C Blumen, Anat Kesler, Ron Dabby, Stavit Shalev, Morad Khayat, Yechoshua Almog, Joseph Zoldan, Felix Benninger, Vivian E Drory, Michael Gurevich, Menachem Sadeh, Bernard Brais, Itzhak Braverman

Journal: Isr. Med. Assoc. J.. 2013 Dec;15(12):748-52.

 

Oculopharyngeal muscular dystrophy (OPMD) produced by the (GCG)13 expansion mutation in the PABPN1 gene is frequent among Uzbek Jews in Israel.

Last Updated: 23 Jan 2014

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Prevalence and distribution of late gadolinium enhancement in a large population of patients with Duchenne muscular dystrophy: effect of age and left ventricular systolic function.
 

Author(s): Kan N Hor, Michael D Taylor, Hussein R Al-Khalidi, Linda H Cripe, Subha V Raman, John L Jefferies, Robert O'Donnell, D Woodrow Benson, Wojciech Mazur

Journal:

 

Duchenne muscular dystrophy (DMD), an X-linked disorder affects approximately 1 in 5000 males, is universally associated with heart disease. We previously identified myocardial disease by late gadolinium enhancement (LGE) in DMD subjects at various stages of disease, but the true ...

Last Updated: 14 Jan 2014

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

Cytokines and chemokines as regulators of skeletal muscle inflammation: presenting the case of Duchenne muscular dystrophy.
 

Author(s): Boel De Paepe, Jan L De Bleecker

Journal: Mediators Inflamm.. 2013 ;2013():540370.

 

Duchenne muscular dystrophy is a severe inherited muscle disease that affects 1 in 3500 boys worldwide. Infiltration of skeletal muscle by inflammatory cells is an important facet of disease pathophysiology and is strongly associated with disease severity in the individual patient. ...

Last Updated: 4 Dec 2013

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Development of multiexon skipping antisense oligonucleotide therapy for Duchenne muscular dystrophy.
 

Author(s): Yoshitsugu Aoki, Toshifumi Yokota, Matthew J A Wood

Journal: Biomed Res Int. 2013 ;2013():402369.

 

Duchenne muscular dystrophy (DMD) is an incurable, X-linked progressive muscle degenerative disorder that results from the absence of dystrophin protein and leads to premature death in affected individuals due to respiratory and/or cardiac failure typically by age of 30. Very recently ...

Last Updated: 28 Aug 2013

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Therapeutic advances in muscular dystrophy.
 

Author(s): Doris G Leung, Kathryn R Wagner

Journal: Ann. Neurol.. 2013 Sep;74(3):404-11.

 

The muscular dystrophies comprise a heterogeneous group of genetic disorders that produce progressive skeletal muscle weakness and wasting. There has been rapid growth and change in our understanding of these disorders in recent years, and advances in basic science are being translated ...

Last Updated: 11 Oct 2013

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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

Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies
 

Status: Recruiting

Condition Summary: Duchenne Muscular Dystrophy; Becker Muscular Dystrophy; Limb Girdle Muscular Dystrophy

 

Last Updated: 19 May 2014

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Muscle MRI in Becker Muscular Dystrophy and in Limb-girdle Muscular Dystrophy Type 2I
 

Status: Recruiting

Condition Summary: Becker Muscular Dystrophy; Limb-Girdle Muscular Dystrophy Type 2I

 

Last Updated: 16 Jun 2014

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Study Safety and Efficacy of Umbilical Cord Derived Cell for the Patient With Duchenne Muscular Dystrophy
 

Status: Recruiting

Condition Summary: Muscular Dystrophy; Duchenne Muscular Dystrophy

 

Last Updated: 15 Apr 2013

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