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

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 "Emery-Dreifuss Muscular Dystrophy" returned 48 free, full-text research articles on human participants. First 3 results:

Emery-Dreifuss muscular dystrophy mutations impair TRC40-mediated targeting of emerin to the inner nuclear membrane.
 

Author(s): Janine Pfaff, Jhon Rivera Monroy, Cara Jamieson, Kalpana Rajanala, Fabio Vilardi, Blanche Schwappach, Ralph H Kehlenbach

Journal: J. Cell. Sci.. 2016 Feb;129(3):502-16.

 

Emerin is a tail-anchored protein that is found predominantly at the inner nuclear membrane (INM), where it associates with components of the nuclear lamina. Mutations in the emerin gene cause Emery-Dreifuss muscular dystrophy (EDMD), an X-linked recessive disease. Here, we report ...

Last Updated: 2 Feb 2016

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Emery-Dreifuss muscular dystrophy type 2 associated (?) with mild peripheral polyneuropathy.
 

Author(s): Agnieszka Madej-Pilarczyk, Katarzyna Kotruchow, Dagmara Kabzinska, Joanna Cegielska, Andrzej Kochanski, Irena Hausmanowa-Petrusewicz

Journal: Folia Neuropathol. 2015 ;53(3):270-4.

 

In recent years numerous mutations in the LMNA gene encoding lamin A/C were shown to segregate with a wide spectrum of phenotypes. A recurrent p.R377H mutation in the LMNA gene was reported in patients with Emery-Dreifuss dystrophy (EDMD2) with various ethnic backgrounds. We present ...

Last Updated: 7 Oct 2015

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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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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 4 free, full-text review articles on human participants. First 3 results:

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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Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.
 

Author(s): A Madej-Pilarczyk, A Kochański

Journal: Folia Neuropathol. 2016 ;54(1):1-8.

 

Emery-Dreifuss muscular dystrophy (EDMD), a rare inherited disease, is characterized clinically by humero-peroneal muscle atrophy and weakness, multijoint contractures, spine rigidity and cardiac insufficiency with conduction defects. There are at least six types of EDMD known so ...

Last Updated: 15 May 2016

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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.