Emery-Dreifuss Muscular Dystrophy

Common Name(s)

Emery-Dreifuss Muscular Dystrophy

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Emery-Dreifuss muscular dystrophy is a condition that affects the joints, muscles, and heart. Joint symptoms tend to present in childhood and involve contractures of the elbows, ankles, and neck. Children and adults with this dystrophy usually experience slowly worsening muscle weakness and wasting. By adulthood, most people with  Emery-Dreifuss muscular dystrophy develop heart problems, such as conduction defects and arrhythmias. Emery-Dreifuss muscular dystrophy is caused by mutations in the EMD and LMNA genes. It can be inherited in an X-linked, autosomal dominant, or autosomal recessive fashion.

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Emery-Dreifuss Muscular Dystrophy" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

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 "Emery-Dreifuss Muscular Dystrophy" returned 42 free, full-text research articles on human participants. First 3 results:

Increased dispersion of ventricular repolarization in Emery Dreifuss muscular dystrophy patients.
 

Author(s): Vincenzo Russo, Anna Rago, Luisa Politano, Andrea Antonio Papa, Federica Di Meo, Maria Giovanna Russo, Paolo Golino, Raffaele Calabrò, Gerardo Nigro

Journal: Med. Sci. Monit.. 2012 Nov;18(11):CR643-7.

 

Sudden cardiac death (SCD) is common in patients with Emery-Dreifuss muscular dystrophy (EDMD) and is attributed to the development of life-threatening arrhythmias that occur in the presence of normal left ventricular systolic function. Heterogeneity of ventricular repolarization ...

Last Updated: 31 Oct 2012

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Successful intravenous rt-PA thrombolysis for a childhood cardioembolic stroke with Emery-Dreifuss muscular dystrophy.
 

Author(s): Koji Tanaka, Toshiyuki Uehara, Kazuaki Sato, Tatsuo Amano, Kazuo Minematsu, Kazunori Toyoda

Journal: Cerebrovasc. Dis.. 2012 ;33(1):92-3.

 

Last Updated: 27 Jan 2012

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Atrial paralysis due to progression of cardiac disease in a patient with Emery-Dreifuss muscular dystrophy.
 

Author(s): Beata Wożakowska-Kapłon, Dawid Bąkowski

Journal: Cardiol J. 2011 ;18(2):189-93.

 

We present the progressive nature of the disease in a 26 year-old woman who had suffered from Emery-Dreifuss muscular dystrophy detected at the age of three. In 2002, at the age of 20, due to recurring presyncopal states accompanied by sinus bradycardia and atrioventricular block, ...

Last Updated: 24 Mar 2011

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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 "Emery-Dreifuss Muscular Dystrophy" returned 3 free, full-text review articles on human participants. First 3 results:

Multiple roles for emerin: implications for Emery-Dreifuss muscular dystrophy.
 

Author(s): James M Holaska, Katherine L Wilson

Journal: Anat Rec A Discov Mol Cell Evol Biol. 2006 Jul;288(7):676-80.

 

X-linked Emery-Dreifuss muscular dystrophy (X-EDMD) is inherited through mutations in EMD, which encodes a nuclear membrane protein named emerin. Emerin is expressed in most cells, but EDMD strikes specific tissues. This review summarizes growing evidence that emerin has roles in ...

Last Updated: 7 Aug 2006

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Emery-Dreifuss muscular dystrophy.
 

Author(s): Anne Helbling-Leclerc, Gisèle Bonne, Ketty Schwartz

Journal: Eur. J. Hum. Genet.. 2002 Mar;10(3):157-61.

 

Emery-Dreifuss muscular dystrophy (EDMD) is characterised by early contractures, slowly progressive muscle wasting and weakness with a distinctive humero-peroneal distribution and cardiac conduction defects leading to dilated cardiomyopathy. The genes known to be responsible for EDMD ...

Last Updated: 25 Apr 2002

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Heart to heart: from nuclear proteins to Emery-Dreifuss muscular dystrophy.
 

Author(s): G E Morris, S Manilal

Journal: Hum. Mol. Genet.. 1999 ;8(10):1847-51.

 

Emery-Dreifuss muscular dystrophy has some remarkably specific features, with only cardiac and skeletal tissues being affected. Equally remarkably, the disease is caused by mutations in widely expressed genes for the nuclear membrane/lamina proteins, emerin and lamin A/C. How do mutations ...

Last Updated: 13 Jul 2000

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.