Diseases & Conditions


Facioscapulohumeral Muscular Dystrophy

Synonyms of Facioscapulohumeral Muscular Dystrophy
  • Facio-Scapulo-Humeral Dystrophy
  • FMD
  • FSH
  • 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).

Organizations related to Facioscapulohumeral Muscular Dystrophy
  • European Alliance of Neuromuscular Disorders Associations
    MDG Malta 4,
    Gzira Intl GAR 04
    Phone #: 003-56 -21 346688
    800 #: --
    e-mail: [email protected]
    Home page: http://www.eamda.net
  • FSH Society, Inc.
    3 Westwood Road
    Lexington MA 02420
    Phone #: 781-860-0501
    800 #: --
    e-mail: [email protected]
    Home page: http://www.fshsociety.org
  • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
    150 Custer Court
    Green Bay WI 54301-1243
    Phone #: 920-336-5333
    800 #: 877-336-5333
    e-mail: [email protected]
    Home page: http://www.netnet.net/mums/
  • Madisons Foundation
    PO Box 241956
    Los Angeles CA 90024
    Phone #: 310-264-0826
    800 #: N/A
    e-mail: [email protected]
    Home page: http://www.madisonsfoundation.org
  • March of Dimes Birth Defects Foundation
    1275 Mamaroneck Avenue
    White Plains NY 10605
    Phone #: 914-428-7100
    800 #: 888-663-4637
    e-mail: [email protected]
    Home page: http://www.marchofdimes.com
  • Muscular Dystrophy Association
    3300 E. Sunrise Dr
    Tucson AZ 85718
    Phone #: 520-529-2000
    800 #: 800-344-4863
    e-mail: [email protected]
    Home page: http://www.mdausa.org
  • Muscular Dystrophy Association (Australia)
    GPO Box 9932
    Melbourne Intl 3001
    Phone #: 61 -3 9-320 9555
    800 #: 1 8-00 -656 632
    e-mail: [email protected]
    Home page: http://www.mda.org.au
  • Muscular Dystrophy Association of New Zealand, Inc.
    PO Box 23-047
    Auckland None None
    Phone #: 09 -278-7216
    800 #: 080-080-0337
    e-mail: [email protected]
    Home page: N/A
  • Muscular Dystrophy Campaign
    7-11 Prescott Place
    London None SW4 6BS
    Phone #: N/A
    800 #: --
    e-mail: [email protected]
    Home page: http://www.muscular-dystrophy.org
  • Muscular Dystrophy Canada
    900-2345 Yonge Street
    Ontario Intl M4P 2E5
    Phone #: 416--48-8-0030
    800 #: (86-6)--MUSCLE-8
    e-mail: [email protected]
    Home page: http://www.muscle.ca
  • Muscular Dystrophy Ireland
    71/72 North Brunswich Street
    Dublin 7 Intl None
    Phone #: 353- 1 -8721501
    800 #: --
    e-mail: [email protected]
    Home page: http://www.mdi.ie/
  • National Institute of Neurological Disorders and Stroke (NINDS)
    31 Center Drive
    Bethesda MD 20892-2540
    Phone #: 301-496-5751
    800 #: 800-352-9424
    e-mail: [email protected]
    Home page: http://www.ninds.nih.gov/
  • Society for Muscular Dystrophy Information International
    P.O. Box 4790
    Nova Scotia None B4V 2X6
    Phone #: 902--68-5-3961
    800 #: --
    e-mail: [email protected]
    Home page: http://users.auracom.com/smdi
  • Spina Bifida Hydrocephalus Queensland
    PO Box 8022
    Woolloongabba, Queensland None 4120
    Phone #: (07-) 3-844 4600
    800 #: N/A
    e-mail: [email protected]
    Home page: 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