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

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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Transgenic Drosophila for Investigating DUX4 and FRG1, Two Genes Associated with Facioscapulohumeral Muscular Dystrophy (FSHD).
 

Author(s): Takako I Jones, Megan Parilla, Peter L Jones

Journal:

 

Facioscapulohumeral muscular dystrophy (FSHD) is typically an adult onset dominant myopathy. Epigenetic changes in the chromosome 4q35 region linked to both forms of FSHD lead to a relaxation of repression and increased somatic expression of DUX4-fl (DUX4-full length), the pathogenic ...

Last Updated: 5 Mar 2016

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Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry.
 

Author(s): Ana Nikolic, Giulia Ricci, Francesco Sera, Elisabetta Bucci, Monica Govi, Fabiano Mele, Marta Rossi, Lucia Ruggiero, Liliana Vercelli, Sabrina Ravaglia, Giacomo Brisca, Chiara Fiorillo, Luisa Villa, Lorenzo Maggi, Michelangelo Cao, Maria Chiara D'Amico, Gabriele Siciliano, Giovanni Antonini, Lucio Santoro, Tiziana Mongini, Maurizio Moggio, Lucia Morandi, Elena Pegoraro, Corrado Angelini, Antonio Di Muzio, Carmelo Rodolico, Giuliano Tomelleri, Maria Grazia D'Angelo, Claudio Bruno, Angela Berardinelli, Rossella Tupler

Journal:

 

Facioscapulohumeral muscular dystrophy type 1 (FSHD1) has been genetically linked to reduced numbers (≤ 8) of D4Z4 repeats at 4q35. Particularly severe FSHD cases, characterised by an infantile onset and presence of additional extra-muscular features, have been associated with the ...

Last Updated: 6 Jan 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 12 free, full-text review articles on human participants. First 3 results:

Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy.
 

Author(s): Jane E Hewitt

Journal: Hum. Mol. Genet.. 2015 Oct;24(R1):R17-23.

 

Current genetic and molecular evidence best supports an epigenetic mechanism for facioscapulohumeral muscular dystrophy (FSHD), whereby de-repression of the D4Z4 macrosatellite array leads to aberrant expression of the DUX4 transcription factor in skeletal muscle. This de-repression ...

Last Updated: 17 Sep 2015

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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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Symptoms, Diagnosis, and Treatment

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

 
 
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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: 29 Nov 2016

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Facioscapulohumeral Dystrophy in Children
 

Status: Recruiting

Condition Summary: Neurological Observations; Facioscapulohumeral Muscular Dystrophy; Pediatric Disorder

 

Last Updated: 25 Oct 2016

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Rasch-analysis of Clinical Severity in FSHD
 

Status: Recruiting

Condition Summary: Facioscapulohumeral Muscular Dystrophy

 

Last Updated: 6 May 2016

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