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    Spinal Muscular Atrophy

    Important
    It is possible that the main title of the report Spinal Muscular Atrophy 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

    • SMA

    Disorder Subdivisions

    • SMA type 0
    • SMA type 1
    • SMA type 2
    • SMA type 3
    • SMA type 4

    General Discussion

    Spinal muscular atrophy (SMA) is a group of inherited disorders characterized by a loss of certain nerve cells in the spinal cord called motor neurons or anterior horn cells. Motor neurons receive the nerve impulses transmitted from the brain to the spinal cord (brainstem) and, in turn, transmit the impulses to the muscle via the peripheral nerves. The loss of motor neurons leads to progressive muscle weakness and muscle wasting (atrophy) in muscles closest to the trunk of the body (proximal muscles) such as the shoulders, hips and back. These muscles are necessary for crawling, walking, sitting up and head control. The more severe types of SMA can affect muscles involved in feeding, swallowing and breathing.

    SMA is divided into subtypes based on age of onset and maximum function achieved. SMA types 0, 1, 2, 3 and 4 are inherited as autosomal recessive genetic disorders and are associated with abnormalities (mutations) in the SMN1 and SMA2 genes which are located on chromosome 5.

    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

    Families of Spinal Muscular Atrophy
    925 Busse Road
    Elk Grove Village, IL 60007
    Tel: (847)367-7620
    Tel: (800)886-1762
    Email: sma@fsma.org
    Internet: http://www.fsma.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/

    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/

    Jennifer Trust for Spinal Muscular Atrophy
    40 Cygnet Court
    Timothy's Bridge Road
    Stratford upon Avon
    Warwickshire, CV37 9NW
    United Kingdom
    Tel: 4401789267520
    Fax: 4401789268371
    Tel: 8009753100
    Email: office@jtsma.org.uk
    Internet: http://www.jtsma.org.uk

    New Horizons Un-Limited, Inc.
    811 East Wisconsin Ave
    P.O. Box 510034
    Milwaukee, WI 53203
    USA
    Tel: (414)299-0124
    Fax: (414)347-1977
    Email: horizons@new-horizons.org
    Internet: http://www.new-horizons.org

    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

    Fight SMA/Spinal Muscular Atrophy
    1807 Libbie Avenue
    Suite 104
    Richmond, VA 23226
    Tel: (804)515-0080
    Fax: (804)515-0080
    Email: CarolineGibson@fightsma.com
    Internet: http://www.fightsma.org

    Claire Altman Heine Foundation, Inc.
    1112 Montana Avenue, #372
    Santa Monica, CA 90403
    Tel: (310)260-3262
    Fax: (310)393-7154
    Email: deb@preventsma.org
    Internet: http://www.clairealtmanheinefoundation.org

    Children with Spinal Muscular Atrophy Ukraine
    Gogolia Street 7
    Kharkiv, 61057
    Ukraine
    Tel: 380503640673
    Email: info@csma.org.ua
    Internet: http://www.csma.org.ua

    Spinal Muscular Atrophy Foundation
    888 Seventh Avenue
    Suite 400
    New York, NY 10019
    USA
    Tel: (646)253-7100
    Fax: (212)247-3079
    Tel: (877)386-3762
    Email: info@smafoundation.org
    Internet: http://www.smafoundation.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: 4/10/2012
    Copyright 2004, 2005, 2006, 2007, 2008, 2012 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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