Facioscapulohumeral muscular dystrophy

Common Name(s)

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" 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
Logo
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 May 2015

View Details
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

View Details
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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Facioscapulohumeral muscular dystrophy" 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
Logo
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 May 2015

View Details
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

View Details
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

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

General Resources

Brochures and More

Downloadable patient education brochures, advocacy tools, as well as links to web resources.

Uploaded By: FSH Society, Inc.

Updated 4 May 2015

Go To URL
 
 
Top

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" returned 93 free, full-text research articles on human participants. First 3 results:

Muscle Quantitative MR Imaging and Clustering Analysis in Patients with Facioscapulohumeral Muscular Dystrophy Type 1.
 

Author(s): Emilie Lareau-Trudel, Arnaud Le Troter, Badih Ghattas, Jean Pouget, Shahram Attarian, David Bendahan, Emmanuelle Salort-Campana

Journal:

 

Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is the third most common inherited muscular dystrophy. Considering the highly variable clinical expression and the slow disease progression, sensitive outcome measures would be of interest.

Last Updated: 18 Jul 2015

Go To URL
New Insights into Genotype-phenotype Correlations in Chinese Facioscapulohumeral Muscular Dystrophy: A Retrospective Analysis of 178 Patients.
 

Author(s): Feng Lin, Zhi-Qiang Wang, Min-Ting Lin, Shen-Xing Murong, Ning Wang

Journal: Chin. Med. J.. 2015 Jul;128(13):1707-13.

 

Facioscapulohumeral muscular dystrophy (FSHD), a common autosomal dominant muscular disorder, is caused by contraction of the D4Z4 repeats on 4q35. The complicated genotype-phenotype correlation among different ethnic population remains a controversial subject. We aimed to refine ...

Last Updated: 26 Jun 2015

Go To URL
[Facioscapulohumeral muscular dystrophy: Report of seven patients].
 

Author(s): Gabriel Cea, Daniel Jiménez

Journal: Rev Med Chil. 2015 Mar;143(3):304-9.

 

Facioscapulohumeral muscular dystrophy is the third most common muscular dystrophy with an estimated prevalence of 1 per 20.000 and a normal life expectancy in the majority of patients. However, approximately 15% of patients become wheelchair bound in the course of their life. It ...

Last Updated: 26 May 2015

Go To URL

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" returned 10 free, full-text review articles on human participants. First 3 results:

Facioscapulohumeral muscular dystrophy.
 

Author(s): Jeffrey Statland, Rabi Tawil

Journal: Neurol Clin. 2014 Aug;32(3):721-8, ix.

 

Facioscapulohumeral muscular dystrophy (FSHD) is a common type of adult muscular dystrophy and is divided into types 1 and 2 based on genetic mutation. Clinically, both FSHD types often show asymmetric and progressive muscle weakness affecting initially the face, shoulder, and arms ...

Last Updated: 19 Jul 2014

Go To URL
Facioscapulohumeral muscular dystrophy.
 

Author(s): Sabrina Sacconi, Leonardo Salviati, Claude Desnuelle

Journal: Biochim. Biophys. Acta. 2015 Apr;1852(4):607-14.

 

Facioscapulohumeral muscular dystrophy (FSHD) is characterized by a typical and asymmetric pattern of muscle involvement and disease progression. Two forms of FSHD, FSHD1 and FSHD2, have been identified displaying identical clinical phenotype but different genetic and epigenetic basis. ...

Last Updated: 9 Feb 2015

Go To URL
Facioscapulohumeral muscular dystrophy: consequences of chromatin relaxation.
 

Author(s): Silvère M van der Maarel, Daniel G Miller, Rabi Tawil, Galina N Filippova, Stephen J Tapscott

Journal: Curr. Opin. Neurol.. 2012 Oct;25(5):614-20.

 

In recent years, we have seen remarkable progress in our understanding of the disease mechanism underlying facioscapulohumeral muscular dystrophy (FSHD). The purpose of this review is to provide a comprehensive overview of our current understanding of the disease mechanism and to ...

Last Updated: 10 Sep 2012

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

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

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Registry
 

Status: Recruiting

Condition Summary: Myotonic Dystrophy; Facioscapulohumeral Muscular Dystrophy; Muscular Dystrophy; Myotonic Dystrophy Type 1; Myotonic Dystrophy Type 2; Congenital Myotonic Dystrophy; PROMM (Proximal Myotonic Myopathy); Steinert's Disease; Myotonic Muscular Dystrophy

 

Last Updated: 21 Jan 2016

Go to URL
Bone Health in Facioscapulohumeral Muscular Dystrophy
 

Status: Recruiting

Condition Summary: Facioscapulohumeral Muscular Dystrophy

 

Last Updated: 14 Apr 2015

Go to URL
The Safety and Biological Activity of ATYR1940 in Patients With Limb Girdle or Facioscapulohumeral Muscular Dystrophies
 

Status: Recruiting

Condition Summary: Limb-Girdle Muscular Dystrophies; Facioscapulohumeral Muscular Dystrophy

 

Last Updated: 20 Apr 2016

Go to URL