Central Core Disease

National Organization for Rare Disorders, Inc.

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

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.

Supporting Organizations

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

Malignant Hyperthermia Association of the United States

1 North Main St
PO Box 1069
Sherburne, NY 13460
Tel: (607)674-7901
Fax: (607)674-7910
Email: info@mhaus.org
Website: http://www.mhaus.org

March of Dimes

1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Email: AskUs@marchofdimes.org or preguntas@nacersano.org
Website: http://www.marchofdimes.org and nacersano.org

MedicAlert Foundation International

2323 Colorado Avenue
Turlock, CA 95382
Tel: (209)669-2401
Fax: (209)669-2456
Tel: (888)633-4298
Email: Inquiries@medicalert.org
Website: http://www.medicalert.org

Muscular Dystrophy Association

3300 East Sunrise Drive
Tucson, AZ 85718-3208
Tel: (520)529-2000
Fax: (520)529-5300
Tel: (800)572-1717
Email: mda@mdausa.org
Website: http://www.mda.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
Website: http://www.ninds.nih.gov/

North American Malignant Hyperthermia Registry

Penn State University
Dept. of Anesthesiology
Hershey, PA 17033-0850
Tel: (412)692-6390
Fax: (412)692-8658
Tel: (888)274-7899
Email: bwb@pitt.edu
Website: http://www.mhreg.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, 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.

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.

Last Updated:  10/12/2007
Copyright  2007 National Organization for Rare Disorders, Inc.