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

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
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

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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 1675 free, full-text research articles on human participants. First 3 results:

Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy.
 

Author(s): Russell J Butterfield, Diane M Dunn, Ying Hu, Kory Johnson, Carsten G Bönnemann, Robert B Weiss

Journal:

 

The collagen VI related muscular dystrophies (COL6-RD), Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) are among the most common congenital muscular dystrophies and are characterized by distal joint laxity and a combination of distal and proximal joint contractures. ...

Last Updated: 31 Dec 1969

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A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.
 

Author(s): Daniela Rossi, Johanna Palmio, Anni Evilä, Lucia Galli, Virginia Barone, Tracy A Caldwell, Rachel A Policke, Esraa Aldkheil, Christopher E Berndsen, Nathan T Wright, Edoardo Malfatti, Guy Brochier, Enrico Pierantozzi, Albena Jordanova, Velina Guergueltcheva, Norma Beatriz Romero, Peter Hackman, Bruno Eymard, Bjarne Udd, Vincenzo Sorrentino

Journal:

 

A novel FLNC c.5161delG (p.Gly1722ValfsTer61) mutation was identified in two members of a French family affected by distal myopathy and in one healthy relative. This FLNC c.5161delG mutation is one nucleotide away from a previously reported FLNC mutation (c.5160delC) that was identified ...

Last Updated: 31 Dec 1969

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Cardiac conduction disturbances and aging in patients with Duchenne muscular dystrophy.
 

Author(s): Kazuhiko Segawa, Hirofumi Komaki, Madoka Mori-Yoshimura, Yasushi Oya, Koichi Kimura, Hisateru Tachimori, Naohiro Kato, Masayuki Sasaki, Yuji Takahashi

Journal: Medicine (Baltimore). 2017 Oct;96(42):e8335.

 

The majority of patients with Duchenne muscular dystrophy (DMD) have electrocardiographic abnormalities, but the clinical significance of conduction disturbances remains unclear. This study aimed to evaluate age-dependent cardiac conduction disturbances by electrocardiogram (ECG) ...

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 "Muscular dystrophy" returned 162 free, full-text review articles on human participants. First 3 results:

WHOLE-BODY VIBRATION EXERCISE IS WELL TOLERATED IN PATIENTS WITH DUCHENNE MUSCULAR DYSTROPHY: A SYSTEMATIC REVIEW.
 

Author(s): Eloá Moreira-Marconi, Danubia C Sá-Caputo, Carla F Dionello, Eliane O Guedes-Aguiar, Cintia R Sousa-Gonçalves, Danielle S Morel, Laisa L Paineiras-Domingos, Patricia L Souza, Cristiane R Kütter, Rebeca G Costa-Cavalcanti, Glenda Costa, Patricia C Paiva, Claudia Figueiredo, Samuel Brandão-Sobrinho-Neto, Christina Stark, Marianne Unger, Mario Bernardo-Filho

Journal:

 

Duchenne muscular dystrophy (DMD) is caused by a defective gene located on the X-chromosome, responsible for the production of the dystrophin protein. Complications in the musculoskeletal system have been previously described in DMD patients. Whole body vibration exercise (WBVE) is ...

Last Updated: 31 Dec 1969

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Eteplirsen in the treatment of Duchenne muscular dystrophy.
 

Author(s): Kenji Rowel Q Lim, Rika Maruyama, Toshifumi Yokota

Journal:

 

Duchenne muscular dystrophy is a fatal neuromuscular disorder affecting around one in 3,500-5,000 male births that is characterized by progressive muscular deterioration. It is inherited in an X-linked recessive fashion and is caused by loss-of-function mutations in the DMD gene coding ...

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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: 17 Jan 2018

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Last Updated: 8 Jan 2018

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