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 1631 free, full-text research articles on human participants. First 3 results:

A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like.
 

Author(s): Zuzhi Chen, Zhixia Ren, Wenli Mei, Qiankun Ma, Yingying Shi, Yuanxing Zhang, Shujian Li, Li Xiang, Jiewen Zhang

Journal:

 

In the present study, a novel mutation in exon 46 at codon 2304 (G2304R) of the SYNE1 gene is described in a Chinese family (proband, mother, and sister) with Emery-Dreifuss muscular dystrophy-like, which clinically manifests as muscle weakness, muscle atrophy, joint contracture, ...

Last Updated: 6 Jun 2017

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Emery-Dreifuss Muscular Dystrophy-Associated Mutant Forms of Lamin A Recruit the Stress Responsive Protein Ankrd2 into the Nucleus, Affecting the Cellular Response to Oxidative Stress.
 

Author(s): Silvia Angori, Cristina Capanni, Georgine Faulkner, Camilla Bean, Giuseppe Boriani, Giovanna Lattanzi, Vittoria Cenni

Journal: Cell. Physiol. Biochem.. 2017 ;42(1):169-184.

 

Ankrd2 is a stress responsive protein mainly expressed in muscle cells. Upon the application of oxidative stress, Ankrd2 translocates into the nucleus where it regulates the activity of genes involved in cellular response to stress. Emery-Dreifuss Muscular Dystrophy 2 (EDMD2) is a ...

Last Updated: 22 May 2017

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Rocuronium-induced neuromuscular block and sugammadex in pediatric patient with duchenne muscular dystrophy: A case Report.
 

Author(s): Ji Eun Kim, Hea Rim Chun

Journal: Medicine (Baltimore). 2017 Mar;96(13):e6456.

 

Anesthetic management of patients with Duchenne muscular dystrophy (DMD) is complicated because these patients are more sensitive to nondepolarizing neuromuscular blocking agents (NMBAs) and are vulnerable to postoperative complications, such as postoperative residual curarization ...

Last Updated: 29 Mar 2017

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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 160 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: 25 Jul 2017

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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: 10 Mar 2017

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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: 10 Jan 2017

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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: 5 Sep 2017

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An Extension Study to Assess Vamorolone in Boys With Duchenne Muscular Dystrophy (DMD)
 

Status: Recruiting

Condition Summary: Duchenne Muscular Dystrophy

 

Last Updated: 23 Aug 2017

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