Facioscapulohumeral Muscular Dystrophy

Content provided by National Organization for Rare Disorders

Important

It is possible that the main title of the report Facioscapulohumeral Muscular Dystrophy is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

• Facio-Scapulo-Humeral Dystrophy
• FSH
• FMD
• FSHD
• Muscular Dystrophy, Facioscapulohumeral
• Muscular Dystrophy, Landouzy Dejerine

Disorder Subdivisions

• Infantile Facioscapulohumeral Muscular Dystrophy

General Discussion

Facioscapulohumeral muscular dystrophy (FSHD), also known as Landouzy-Dejerine muscular dystrophy, is a neuromuscular disorder. Symptom onset usually occurs in adolescence or early adulthood; however, less commonly, symptoms may become apparent as early as infancy or early childhood.



The disorder is typically initially characterized by weakness of facial, shoulder, and/or upper arm muscles. Associated abnormalities may include an impaired ability to completely close the eyes, limited movements of the lips, and difficulties raising the arms over the head. Affected individuals may also eventually develop weakness and associated wasting (atrophy) of muscles of the hips and thighs and/or involvement of lower leg muscles.



Although the disease course may be variable, FSHD is most typically characterized by relatively slow disease progression. Specific symptoms and findings may also vary in range and severity, including among affected members of the same family (kindred).



FSHD is usually inherited as an autosomal dominant trait. However, in up to approximately 30 percent of affected individuals, there is no apparent family history of the disorder. In some of these cases, FSHD may be due to new genetic changes (mutations) that appear to occur spontaneously for unknown reasons (sporadically).

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Resources

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)428-7100

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



FSH Society, Inc.

3 Westwood Road

Lexington, MA 02420

Tel: (781)860-0501

Fax: (781)860-0599

Email: carol.perez@fshsociety.org

Internet: http://www.fshsociety.org



Muscular Dystrophy Association

3300 E. Sunrise Dr

Tucson, AZ 85718

USA

Tel: 5205292000

Fax: 5205295300

Tel: 8003444863

Email: mda@mdausa.org

Internet: http://www.mdausa.org



Muscular Dystrophy Canada

900-2345 Yonge Street

Toronto

Ontario, Intl M4P 2E5

Canada

Tel: 416-488-0030

Fax: 416-488-7523

Tel: (866)-MUSCLE-8

Email: info@muscle.ca

Internet: http://www.muscle.ca



Muscular Dystrophy Campaign

7-11 Prescott Place

London, SW4 6BS

United Kingdom

Email: info@muscular-dystrophy.org

Internet: http://www.muscular-dystrophy.org



National Institute of Neurological Disorders and Stroke (NINDS)

31 Center Drive

8A07

Bethesda, MD 20892-2540

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

Email: braininfo@ninds.nih.gov

Internet: http://www.ninds.nih.gov/



Society for Muscular Dystrophy Information International

P.O. Box 4790

Bridgewater

Nova Scotia, B4V 2X6

Canada

Tel: 902-685-3961

Fax: 902-685-3962

Email: smdi@auracom.com

Internet: http://users.auracom.com/smdi



Muscular Dystrophy Association of New Zealand, Inc.

PO Box 23-047

Papatoetoe

Auckland,

New Zealand

Tel: 09 2787216

Fax: 09 2777540

Tel: 0800800337

Email: nzmda@nzmda.ak.planet.gen.nz



Muscular Dystrophy Association (Australia)

GPO Box 9932

Melbourne, Intl 3001

Australia

Tel: 61 3 9320 9555

Fax: 61 3 9320 9595

Tel: 1 800 656 632

Email: info@mda.org.au

Internet: http://www.mda.org.au



European Alliance of Neuromuscular Disorders Associations

MDG Malta 4,

Gzira Road

Gzira, Intl GAR 04

Malta

Tel: 00356 21 346688

Fax: 00356 21 318024

Email: eamda@hotmail.com

Internet: http://www.eamda.net



Muscular Dystrophy Ireland

71/72 North Brunswich Street

Dublin 7, Intl

Ireland

Tel: 353 1 8721501

Fax: 353 1 8724482

Email: info@mdi.ie

Internet: http://www.mdi.ie/



MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network

150 Custer Court

Green Bay, WI 54301-1243

USA

Tel: 9203365333

Fax: 9203390995

Tel: 8773365333

Email: mums@netnet.net

Internet: http://www.netnet.net/mums/



Spina Bifida Hydrocephalus Queensland

PO Box 8022

Woolloongabba, Queensland, 4120

Australia

Tel: (07) 3844 4600

Fax: (07) 3844 4601

Email: info@sbhqueensland.org.au

Internet: http://www.spinabifida.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  9/17/2007

Copyright  1992, 1996, 1997, 1998, 1999, 2000, 2002, 2003, 2007 National Organization for Rare Disorders, Inc.

Last updated:	September 17, 2007