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Facioscapulohumeral Muscular Dystrophy

National Organization for Rare Disorders, Inc.

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).

Resources

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



FSH Society, Inc.

BBRI R353

64 Grove Street

Watertown, MA 02472

Tel: (617)658-7878

Fax: (617)658-7879

Email: info@fshsociety.org

Internet: http://www.fshsociety.org



Muscular Dystrophy Association

3300 East Sunrise Drive

Tucson, AZ 85718-3208

USA

Tel: (520)529-2000

Fax: (520)529-5300

Tel: (800)572-1717

Email: mda@mdausa.org

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



Muscular Dystrophy Canada

2345 Yonge Street Suite 900

Toronto

Ontario, M4P 2E5

Canada

Tel: 4164880030

Fax: 4164887523

Tel: 866MUSCLE8

Email: info@muscle.ca

Internet: http://www.muscle.ca



Muscular Dystrophy Campaign

61 Southwark Street

London, SE1 0HL

United Kingdom

Tel: 02078034800

Email: info@muscular-dystrophy.org

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



NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801

Bethesda, MD 20824

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

TDD: (301)468-5981

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



Society for Muscular Dystrophy Information International

P.O. Box 7490

Bridgewater

Nova Scotia, B4V 2X6

Canada

Tel: 9026853961

Fax: 9026853962

Email: smdi@auracom.com

Internet: http://www.nsnet.org/smdi/



Muscular Dystrophy Association of New Zealand, Inc.

PO Box 16-238

Sandringham

Auckland,

New Zealand

Tel: 098150247

Fax: 092777540

Tel: 0800800337

Email: info@mda.org.nz

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



Muscular Dystrophy Australia

111 Boundary Road

North Melbourne

VIC 3051

Australia

Tel: 61393209555

Fax: 61393209595

Tel: 1800656632

Email: info@mda.org.au

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



European Alliance of Neuromuscular Disorders Associations

MDG Malta 4

Gzira Road

Gzira, GAR 04

Malta

Tel: 0035621346688

Fax: 0035621318024

Email: eamda@hotmail.com

Internet: http://www.eamda.net



Muscular Dystrophy Ireland

75 Lucan Road

Chapelized

Dublin 20

Ireland

Tel: 016236414

Fax: 016208663

Email: info@mdi.ie

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



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



Spina Bifida Hydrocephalus Queensland

PO Box 8022

Woolloongabba

Queensland, 4102

Australia

Tel: (07) 3844 4600

Fax: (07) 3844 4601

Email: info@sbhqueensland.org.au

Internet: http://www.spinabifida.org



Child Neurology Foundation

2000 West 98th Street

Bloomington, MN 55431

USA

Tel: (952)641-6100

Fax: (952)881-6276

Tel: (877)263-5430

Email: jstone@childneurologyfoundation.org

Internet: http://www.childneurologyfoundation.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

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.

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