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.

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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 May 2015

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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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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" 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).

http://www.fshsociety.org

Last Updated: 4 May 2015

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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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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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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

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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" returned 90 free, full-text research articles on human participants. First 3 results:

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study.
 

Author(s): Emmanuelle Salort-Campana, Karine Nguyen, Rafaelle Bernard, Elisabeth Jouve, Guilhem Solé, Aleksandra Nadaj-Pakleza, Julien Niederhauser, Estelle Charles, Elisabeth Ollagnon, Françoise Bouhour, Sabrina Sacconi, Andoni Echaniz-Laguna, Claude Desnuelle, Christine Tranchant, Christophe Vial, Frederique Magdinier, Marc Bartoli, Marie-Christine Arne-Bes, Xavier Ferrer, Thierry Kuntzer, Nicolas Levy, Jean Pouget, Shahram Attarian

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Facioscapulohumeral muscular dystrophy type 1(FSHD1) is an autosomal dominant disorder associated with the contraction of D4Z4 less than 11 repeat units (RUs) on chromosome 4q35. Penetrance in the range of the largest alleles is poorly known. Our objective was to study the penetrance ...

Last Updated: 22 Apr 2015

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A feedback loop between nonsense-mediated decay and the retrogene DUX4 in facioscapulohumeral muscular dystrophy.
 

Author(s): Qing Feng, Lauren Snider, Sujatha Jagannathan, Rabi Tawil, Silvère M van der Maarel, Stephen J Tapscott, Robert K Bradley

Journal:

 

Facioscapulohumeral muscular dystrophy (FSHD) is a muscular dystrophy caused by inefficient epigenetic repression of the D4Z4 macrosatellite array and somatic expression of the DUX4 retrogene. DUX4 is a double homeobox transcription factor that is normally expressed in the testis ...

Last Updated: 6 Feb 2015

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β-Catenin is central to DUX4-driven network rewiring in facioscapulohumeral muscular dystrophy.
 

Author(s): Christopher R S Banerji, Paul Knopp, Louise A Moyle, Simone Severini, Richard W Orrell, Andrew E Teschendorff, Peter S Zammit

Journal: J R Soc Interface. 2015 Jan;12(102):20140797.

 

Facioscapulohumeral muscular dystrophy (FSHD) is an incurable disease, characterized by skeletal muscle weakness and wasting. Genetically, FSHD is characterized by contraction or hypomethylation of repeat D4Z4 units on chromosome 4, which causes aberrant expression of the transcription ...

Last Updated: 30 Dec 2014

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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" returned 9 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

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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

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Best practice guidelines on genetic diagnostics of Facioscapulohumeral muscular dystrophy: workshop 9th June 2010, LUMC, Leiden, The Netherlands.
 

Author(s): Richard J L F Lemmers, Suzanne O'Shea, George W Padberg, Peter W Lunt, Silvère M van der Maarel

Journal: Neuromuscul. Disord.. 2012 May;22(5):463-70.

 

Last Updated: 16 Apr 2012

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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

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Bone Health in Facioscapulohumeral Muscular Dystrophy
 

Status: Recruiting

Condition Summary: Facioscapulohumeral Muscular Dystrophy

 

Last Updated: 14 Apr 2015

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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: 18 Jan 2016

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