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

Safety and efficacy of a 6-month home-based exercise program in patients with facioscapulohumeral muscular dystrophy: A randomized controlled trial.
 

Author(s): Landry-Cyrille Bankolé, Guillaume Y Millet, John Temesi, Damien Bachasson, Marion Ravelojaona, Bernard Wuyam, Samuel Verges, Elodie Ponsot, Jean-Christophe Antoine, Fawzi Kadi, Léonard Féasson

Journal: Medicine (Baltimore). 2016 Aug;95(31):e4497.

 

Previous randomized controlled trials investigating exercise training programs in facioscapulohumeral muscular dystrophy (FSHD) patients are scarce and of short duration only. This study assessed the safety and efficacy of a 6-month home-based exercise training program on fitness, ...

Last Updated: 6 Aug 2016

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Filling in the Gap of Human Chromosome 4: Single Molecule Real Time Sequencing of Macrosatellite Repeats in the Facioscapulohumeral Muscular Dystrophy Locus.
 

Author(s): Masaki Suimye Morioka, Miwako Kitazume, Ken Osaki, Jonathan Wood, Yujiro Tanaka

Journal:

 

A majority of facioscapulohumeral muscular dystrophy (FSHD) is caused by contraction of macrosatellite repeats called D4Z4 that are located in the subtelomeric region of human chromosome 4q35. Sequencing the FSHD locus has been technically challenging due to its long size and nearly ...

Last Updated: 23 Mar 2016

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Gene discovery for facioscapulohumeral muscular dystrophy by machine learning techniques.
 

Author(s): Félix F González-Navarro, Lluís A Belanche-Muñoz, María G Gámez-Moreno, Brenda L Flores-Ríos, Jorge E Ibarra-Esquer, Gabriel A López-Morteo

Journal: Genes Genet. Syst.. 2016 Apr;90(6):343-56.

 

Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder that shows a preference for the facial, shoulder and upper arm muscles. FSHD affects about one in 20-400,000 people, and no effective therapeutic strategies are known to halt disease progression or reverse muscle ...

Last Updated: 6 May 2016

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

Facioscapulohumeral muscular dystrophy as a model for epigenetic regulation and disease.
 

Author(s): Charis L Himeda, Takako I Jones, Peter L Jones

Journal: Antioxid. Redox Signal.. 2015 Jun;22(16):1463-82.

 

Aberrant epigenetic regulation is an integral aspect of many diseases and complex disorders. Facioscapulohumeral muscular dystrophy (FSHD), a progressive myopathy that afflicts individuals of all ages, is caused by disrupted genetic and epigenetic regulation of a macrosatellite repeat. ...

Last Updated: 12 May 2015

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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.
 

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

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of ACE-083 in Patients With Facioscapulohumeral Muscular Dystrophy (FSHD)
 

Status: Recruiting

Condition Summary: Facioscapulohumeral Muscular Dystrophy

 

Last Updated: 22 Feb 2017

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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: 26 Aug 2016

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Muscle Inflammation and Fat Infiltration in Patients Affected by FSHD
 

Status: Recruiting

Condition Summary: Facioscapulohumeral Muscular Dystrophy 1a

 

Last Updated: 4 Oct 2016

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