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.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

LGMD-diagnosis.org

LGMD-diagnosis.org is sponsored by a consortium of family foundations that each focus on a separate form of LGMD. By coming together and pooling resources, the consortium foundations are rapidly and efficiently diagnosing many patients. The consortium includes the Cecil B Day Family, Inc (LGMD2B), Coalition to Cure Calpain 3 (LGMD2A), Jain Foundation (LGMD2B), Kurt + Peter Foundation (LGMD2C), LGMD2D Foundation, LGMD2I Fund, and McColl-Lockwood Laboratory (LGMD2I).

Last Updated: 22 May 2015

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Thisbe and Noah Scott Foundation, Inc.

It is the mission of the Thisbe and Noah Scott Foundation, Inc. to save lives by promoting research, awareness and support for children and families affected by pediatric neuromuscular diseases.

Last Updated: 19 May 2015

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General Support Organizations

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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.

LGMD-diagnosis.org

LGMD-diagnosis.org is sponsored by a consortium of family foundations that each focus on a separate form of LGMD. By coming together and pooling resources, the consortium foundations are rapidly and efficiently diagnosing many patients. The consortium includes the Cecil B Day Family, Inc (LGMD2B), Coalition to Cure Calpain 3 (LGMD2A), Jain Foundation (LGMD2B), Kurt + Peter Foundation (LGMD2C), LGMD2D Foundation, LGMD2I Fund, and McColl-Lockwood Laboratory (LGMD2I).

https://www.lgmd-diagnosis.org

Last Updated: 22 May 2015

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Thisbe and Noah Scott Foundation, Inc.

It is the mission of the Thisbe and Noah Scott Foundation, Inc. to save lives by promoting research, awareness and support for children and families affected by pediatric neuromuscular diseases.

http://www.thisbeandnoah.org/

Last Updated: 19 May 2015

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

Cardiac effects of the c.1583 C→G LMNA mutation in two families with Emery-Dreifuss muscular dystrophy.
 

Author(s): Li Zhang, Hongrui Shen, Zhe Zhao, Qi Bing, Jing Hu

Journal: Mol Med Rep. 2015 Oct;12(4):5065-71.

 

The present study aimed to examine and analyze cardiac involvement in two Emery‑Dreifuss muscular dystrophy (EDMD) pedigrees caused by the c.1583 C→G mutation of the lamin A/C gene (LMNA). The clinical and genetic characteristics of members of two families with EDMD were evaluated ...

Last Updated: 24 Sep 2015

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Abnormal proliferation and spontaneous differentiation of myoblasts from a symptomatic female carrier of X-linked Emery-Dreifuss muscular dystrophy.
 

Author(s): Peter Meinke, Peter Schneiderat, Vlastimil Srsen, Nadia Korfali, Phú Lê Thành, Graeme J M Cowan, David R Cavanagh, Manfred Wehnert, Eric C Schirmer, Maggie C Walter

Journal: Neuromuscul. Disord.. 2015 Feb;25(2):127-36.

 

Emery-Dreifuss muscular dystrophy (EDMD) is a neuromuscular disease characterized by early contractures, slowly progressive muscular weakness and life-threatening cardiac arrhythmia that can develop into cardiomyopathy. In X-linked EDMD (EDMD1), female carriers are usually unaffected. ...

Last Updated: 20 Jan 2015

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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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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.