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    Nemaline Myopathy

    Important
    It is possible that the main title of the report Nemaline Myopathy 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

    • Congenital Rod Disease
    • NM
    • Rod Myopathy

    Disorder Subdivisions

    • None

    General Discussion

    Nemaline myopathy is a rare genetic muscle disorder. Myopathy is a general medical term meaning "disease of the muscle". At least six different forms of nemaline myopathy have been identified. The severity, age of onset, and inheritance pattern varies among these different forms of nemaline myopathy. A severe form that is present at birth (congenital) can cause life-threatening complications. Milder forms and a form with onset in adulthood have also been identified. Most affected individuals have a milder form of the disorder known as typical congenital nemaline myopathy. Most individuals with this form are able to walk and lead active lives. Characteristic symptoms of all forms of nemaline myopathy include muscle weakness, diminished muscle tone (hypotonia), and absence of certain reflexes. In most cases, muscle weakness does not worsen or spread (nonprogressive), though it some cases it may. The inheritance patterns of the six forms of nemaline myopathy also vary; some are inherited as an autosomal recessive trait and some as an autosomal dominant trait.

    When certain muscle fibers of individuals with nemaline myopathy are examined under a microscope, they show the presence of fine, thread-like or rod-like structures called "nemaline bodies." The prefix "nemal" is derived from Greek and means "thread-like." Nemaline bodies consist of defective proteins, which are normally required for proper muscle health and function.

    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

    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 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/

    Nemaline Myopathy Support Group
    Email: davidmcd_@hotmail.com
    Internet: http://www.davidmcd.btinternet.co.uk/

    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

    Foundation Building Strength for Nemaline Myopathy
    2450 El Camino Real
    Suite 101
    Palo Alto, CA 94306
    Tel: (650)320-8000
    Email: info@buildingstrength.org
    Internet: http://buildingstrength.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: 10/22/2007
    Copyright 1986, 1987, 1989, 1990, 1994, 1998, 1999, 2001, 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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