Facioscapulohumeral Muscular Dystrophy 1A

Common Name(s)

Facioscapulohumeral Muscular Dystrophy 1A, Facioscapulohumeral muscular dystrophy (FSHD), Landouzy-Dejerine Muscular Dystrophy

Facioscapulohumeral muscular dystrophy is the third most common hereditary disease of muscle after Duchenne (DMD; {310200}) and myotonic ({160900}) dystrophy. It is a highly variable disorder with weakness appearing from infancy to late life but typically in the second decade. In general, the disease initially involves the face and the scapulae followed by the foot dorsiflexors and the hip girdles. Typical features are striking asymmetry of muscle involvement from side to side and sparing of bulbar extraocular and respiratory muscles ({76:Tawil et al., 1998}). {62:Richards et al. (2012)} provided a detailed review of FSHD. See also FSHD2 ({158901}), which is phenotypically indistinguishable from FSHD1, but not associated with contraction of the D4Z4 microsatellite repeat. Evidence suggests, however, that epigenetic changes in this region are associated with both FSHD1 and FSHD2 ({116:Zeng et al., 2009}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Facioscapulohumeral Muscular Dystrophy 1A" for support, advocacy or research.

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Canadian FSHD Network

To provide disorder specific information and personal support to Canadians with FSHD.

Last Updated: 12 Feb 2013

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FSH Society, Inc.

The Facioscapulohumeral Muscular Dystrophy Society (FSH Society) is a 501(c)(3) non-profit tax-exempt U.S. corporation organized in 1991 to fund, encourage and promote scientific and clinical research on Facioscapulohumeral Muscular Dystrophy (FSHD).

Last Updated: 4 Jan 2013

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Pacific Northwest Friends of FSH Research

Our mission is to impact the lives of those affected by FSH Muscular Dystrophy by: financially supporting FSHD research, stimulating new research and funding pilot studies, and supporting researchers by hosting FSHD research workshops.

Last Updated: 29 Apr 2014

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Facioscapulohumeral Muscular Dystrophy 1A" for support, advocacy or research.

Logo
Canadian FSHD Network

To provide disorder specific information and personal support to Canadians with FSHD.

Last Updated: 12 Feb 2013

View Details
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FSH Society, Inc.

The Facioscapulohumeral Muscular Dystrophy Society (FSH Society) is a 501(c)(3) non-profit tax-exempt U.S. corporation organized in 1991 to fund, encourage and promote scientific and clinical research on Facioscapulohumeral Muscular Dystrophy (FSHD).

http://www.fshsociety.org

Last Updated: 4 Jan 2013

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Pacific Northwest Friends of FSH Research

Our mission is to impact the lives of those affected by FSH Muscular Dystrophy by: financially supporting FSHD research, stimulating new research and funding pilot studies, and supporting researchers by hosting FSHD research workshops.

http://www.fshfriends.org

Last Updated: 29 Apr 2014

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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 "Facioscapulohumeral Muscular Dystrophy 1A" returned 2 free, full-text research articles on human participants. First 3 results:

Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes.
 

Author(s): Olivia Schreiber, Peter Schneiderat, Wolfram Kress, Bernd Rautenstrauss, Jan Senderek, Benedikt Schoser, Maggie C Walter

Journal:

 

We report on a patient with genetically confirmed overlapping diagnoses of CMT1A and FSHD. This case adds to the increasing number of unique patients presenting with atypical phenotypes, particularly in FSHD. Even if a mutation in one disease gene has been found, further genetic testing ...

Last Updated: 15 Nov 2013

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Very low penetrance in 85 Japanese families with facioscapulohumeral muscular dystrophy 1A.
 

Author(s): K Goto, I Nishino, Y K Hayashi

Journal: J. Med. Genet.. 2004 Jan;41(1):e12.

 

Last Updated: 19 Jan 2004

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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 "Facioscapulohumeral Muscular Dystrophy 1A" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Neurological and Psychiatric Comorbidities Patients With FSHD 1 and 2
 

Status: Not yet recruiting

Condition Summary: Muscular Dystrophy, Facioscapulohumeral

 

Last Updated: 9 Jan 2014

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1 Year MRI Followup in Facioscapulohumeral Muscular Dystrophy
 

Status: Recruiting

Condition Summary: FSHD - Facioscapulohumeral Muscular Dystrophy

 

Last Updated: 6 Jun 2014

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Clinical, Genetic and Epigenetic Characterization of Patients With FSHD Type 1 and FSHD Type 2
 

Status: Recruiting

Condition Summary: Muscular Dystrophy, Facioscapulohumeral

 

Last Updated: 10 Dec 2013

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