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Copyright 1986, 1990, 1992, 1994, 2001, 2003, 2007
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
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- 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
PO Box 1069
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 #: 914-997-4488
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com
- MedicAlert Foundation International
2323 Colorado Avenue
Turlock CA 95382
Phone #: 209-669-2401
800 #: 888-633-4298
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)
P.O. Box 5801
Bethesda MD 20824
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: me20t@nih.gov
Home page: http://www.ninds.nih.gov/
- North American Malignant Hyperthermia Registry of MHAUS
Children's Hospital of Pittsburgh
Room #7446
3705 Fifth Ave at DeSoto St
Pittsburgh PA 15213-2583
Phone #: 412-692-6390
800 #: 888-274-7899
e-mail: bwb+@pitt.edu
Home page: http://www.mhreg.org
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