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 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" 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 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" returned 79 free, full-text research articles on human participants. First 3 results:

Myogenic enhancers regulate expression of the facioscapulohumeral muscular dystrophy-associated DUX4 gene.
 

Author(s): Charis L Himeda, Céline Debarnot, Sachiko Homma, Mary Lou Beermann, Jeffrey B Miller, Peter L Jones, Takako I Jones

Journal: Mol. Cell. Biol.. 2014 Jun;34(11):1942-55.

 

Facioscapulohumeral muscular dystrophy (FSHD) is linked to epigenetic dysregulation of the chromosome 4q35 D4Z4 macrosatellite. However, this does not account for the tissue specificity of FSHD pathology, which requires stable expression of an alternative full-length mRNA splice form ...

Last Updated: 7 May 2014

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Effective classification and gene expression profiling for the Facioscapulohumeral Muscular Dystrophy.
 

Author(s): Félix F González-Navarro, Lluís A Belanche-Muñoz, Karen A Silva-Colón

Journal:

 

The Facioscapulohumeral Muscular Dystrophy (FSHD) is an autosomal dominant neuromuscular disorder whose incidence is estimated in about one in 400,000 to one in 20,000. No effective therapeutic strategies are known to halt progression or reverse muscle weakness and atrophy. It is ...

Last Updated: 18 Dec 2013

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Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2.
 

Author(s): Satomi Mitsuhashi, Steven E Boyden, Elicia A Estrella, Takako I Jones, Fedik Rahimov, Timothy W Yu, Basil T Darras, Anthony A Amato, Rebecca D Folkerth, Peter L Jones, Louis M Kunkel, Peter B Kang

Journal: Neuromuscul. Disord.. 2013 Dec;23(12):975-80.

 

FSHD2 is a rare form of facioscapulohumeral muscular dystrophy (FSHD) characterized by the absence of a contraction in the D4Z4 macrosatellite repeat region on chromosome 4q35 that is the hallmark of FSHD1. However, hypomethylation of this region is common to both subtypes. Recently, ...

Last Updated: 3 Dec 2013

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

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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Facioscapulohumeral muscular dystrophy and DUX4: breaking the silence.
 

Author(s): Silvère M van der Maarel, Rabi Tawil, Stephen J Tapscott

Journal: Trends Mol Med. 2011 May;17(5):252-8.

 

Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) has an unusual pathogenic mechanism. FSHD is caused by deletion of a subset of D4Z4 macrosatellite repeat units in the subtelomere of chromosome 4q. Recent studies provide compelling evidence that a retrotransposed gene ...

Last Updated: 11 May 2011

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Bone Health in Facioscapulohumeral Muscular Dystrophy
 

Status: Recruiting

Condition Summary: Facioscapulohumeral Muscular Dystrophy

 

Last Updated: 14 Apr 2015

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Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy
 

Status: Recruiting

Condition Summary: Facioscapulohumeral Muscular Dystrophy

 

Last Updated: 14 May 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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