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    Facioscapulohumeral Muscular Dystrophy

    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.
    450 Bedford Street
    Lexington, MA 02420
    Tel: (781)301-6060
    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
    201 Chicago Ave, #200
    Minneapolis, MN 55415
    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.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

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