Central Core Disease

Important
It is possible that the main title of the report Central Core Diseaseis not the name you expected.

Synonyms

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

Disorder Subdivisions

None

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.

Resources

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains
NY
10605
Tel: (914)428-7100
Fax: (914)997-4763
800: (888)663-4637
Askus@marchofdimes.com
http://www.marchofdimes.com

Malignant Hyperthermia Association of the United States (MHAUS)
11 East State Street
PO Box 1069
Sherburne
NY
13460-1069
USA
Tel: (607)674-7901
Fax: (607)674-7910
info@mhaus.org
http://www.mhaus.org

North American Malignant Hyperthermia Registry of MHAUS
Children's Hospital of Pittsburgh
Room #7446
3705 Fifth Ave at DeSoto St
Pittsburgh
PA
15213-2583
USA
Tel: (412)692-6390
Fax: (412)692-8658
800: (888)274-7899
bwb+@pitt.edu
http://www.mhreg.org

Muscular Dystrophy Association
3300 E. Sunrise Dr
Tucson
AZ
85718
USA
Tel: (520)529-2000
Fax: (520)529-5300
800: (800)344-4863
mda@mdausa.org
http://www.mdausa.org

National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda
MD
20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
800: (800)352-9424
braininfo@ninds.nih.gov
http://www.ninds.nih.gov/

Medic Alert Foundation International
2323 Colorado Avenue
Turlock
CA
95382
USA
Tel: (209)669-2401
Fax: (209)669-2456
800: (800)432-5378
Inquiries@medicalert.org
http://www.medicalert.org

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay
WI
54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/

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

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: 10/12/2007
Copyright 1986, 1990, 1992, 1994, 2001, 2003, 2007 National Organization for Rare Disorders, Inc.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: October 12, 2007

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