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

[Atrial mechanical and electrical dysfunction in patient with Emery-Dreifuss muscular dystrophy reason of change in electrotherapeutical approach: frequent result of rare disease].
 

Author(s): Roman Steckiewicz, Przemysław Stolarz, Dariusz A Kosior, Michał Marchel, Marian Pieniak, Elżbieta Świętoń, Ewa Piotrowska-Kownacka, Marcin Grabowski

Journal: Kardiol Pol. 2013 ;71(4):406-9.

 

We present a case of a 35 year-old male patient with Emery-Dreifuss muscular dystrophy diagnosed in the age of 12 who was assigned to dual chamber pacing system due to bradycardia primarily recognised as sinus node insufficiency with the atrio-ventricular nodal rhythm. During the ...

Last Updated: 21 Jun 2013

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Regional and transmural dispersion of repolarisation in patients with Emery-Dreifuss muscular dystrophy.
 

Author(s): Gerardo Nigro, Vincenzo Russo, Anna Rago, Andrea Antonio Papa, Nicola Carbone, Michal Marchel, Alberto Palladino, Irena Hausmanowa-Petrusewicz, Maria Giovanna Russo, Luisa Politano

Journal: Kardiol Pol. 2012 ;70(11):1154-9.

 

The development of malignant ventricular arrhythmias is a possible feature in Emery-Dreifuss muscular dystrophy (EDMD) patients with normal left ventricular systolic function. This event may be the cause of sudden cardiac death in EDMD patients. QTc dispersion (QTc-D), JTc dispersion ...

Last Updated: 27 Nov 2012

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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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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.