Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Nemaline Myopathy


Synonyms of Nemaline Myopathy
  • Congenital Rod Disease
  • NM
  • Rod Myopathy

Disorder Subdivisions



    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.

    Organizations related to Nemaline Myopathy
    • European Alliance of Neuromuscular Disorders Associations
      MDG Malta 4,
      Gzira Intl GAR 04
      Phone #: 003-56 -21 346688
      800 #: --
      e-mail: eamda@hotmail.com
      Home page: http://www.eamda.net
    • Foundation Building Strength for Nemaline Myopathy
      2450 El Camino Real
      Palo Alto CA 94306
      Phone #: 650-320-8000
      800 #: N/A
      e-mail: info@buildingstrength.org
      Home page: http://buildingstrength.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: mums@netnet.net
      Home page: http://www.netnet.net/mums/
    • March of Dimes Birth Defects Foundation
      1275 Mamaroneck Avenue
      White Plains NY 10605
      Phone #: 914-428-7100
      800 #: 888-663-4637
      e-mail: Askus@marchofdimes.com
      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: mda@mdausa.org
      Home page: http://www.mdausa.org
    • Muscular Dystrophy Campaign
      7-11 Prescott Place
      London None SW4 6BS
      Phone #: N/A
      800 #: --
      e-mail: info@muscular-dystrophy.org
      Home page: http://www.muscular-dystrophy.org
    • 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: braininfo@ninds.nih.gov
      Home page: http://www.ninds.nih.gov/
    • Nemaline Myopathy Website
      None
      None None None
      Phone #: N/A
      800 #: --
      e-mail: davidmcd@hotmail.com
      Home page: http://www.davidmcd.btinternet.co.uk/



    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