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

Central Core Disease


Synonyms of Central Core Disease
  • CCD
  • CCO
  • Central Core Disease of Muscle
  • Muscle Core Disease
  • Muscular Central Core Disease
  • Myopathy, Central Core
  • Myopathy, Central Fibrillar
  • Shy-Magee Syndrome

Disorder Subdivisions



    General Discussion
    Central core disease (CCD) is a rare genetic neuromuscular disorder that is classified as a congenital myopathy, meaning that it is a muscle disorder (myopathy) that is present at birth (congenital). Affected infants have diminished muscle tone (hypotonia) resulting in abnormal ?floppiness,? muscle weakness, and a variety of skeletal abnormalities such as side-to-side curvature of the spine (scoliosis). Muscle weakness normally affects the proximal muscles, which are those muscles closest to the center of the body such as the muscles of the shoulder, pelvis and upper arms and legs. Affected infants may experience delays in acquiring motor milestones such as crawling or walking. Some individuals with CCD may be susceptible to developing malignant hyperthermia, a condition in which individuals develop adverse reactions to certain anesthetic drugs. CCD may be very mild or may cause serious complications. Most cases are inherited as autosomal dominant trait and associated with nonprogressive muscle disease and a favorable prognosis. Some cases are inherited as autosomal recessive traits and are more likely to be associated with severe complications.

    The disorder derives its name from characteristic, abnormal areas within the centers of muscle fibers. These abnormal central cores are detected during microscopic examination of small samples of muscle tissue (muscle biopsy). Such study may reveal characteristic findings such as a lack of mitochondria, the parts of the cells that release energy, or absence of the sarcoplasmic retiuculum, an internal membrane of muscle fibers.

    Organizations related to Central Core Disease
    • 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/
    • Madisons Foundation
      PO Box 241956
      Los Angeles CA 90024
      Phone #: 310-264-0826
      800 #: N/A
      e-mail: getinfo@madisonsfoundation.org
      Home page: http://www.madisonsfoundation.org
    • Malignant Hyperthermia Association of the United States (MHAUS)
      11 East State Street
      Sherburne NY 13460-1069
      Phone #: 607-674-7901
      800 #: --
      e-mail: info@mhaus.org
      Home page: http://www.mhaus.org
    • 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
    • Medic Alert Foundation International
      2323 Colorado Avenue
      Turlock CA 95382
      Phone #: 209-669-2401
      800 #: 800-432-5378
      e-mail: Inquiries@medicalert.org
      Home page: http://www.medicalert.org
    • 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
    • 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/
    • North American Malignant Hyperthermia Registry of MHAUS
      Children's Hospital of Pittsburgh
      Pittsburgh PA 15213-2583
      Phone #: 412-692-6390
      800 #: 888-274-7899
      e-mail: bwb+@pitt.edu
      Home page: http://www.mhreg.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