Central core disease

Title

Other Names:

CCD; CCO; Central core disease of muscle; CCD; CCO; Central core disease of muscle; Muscle core disease; Muscular central core disease; Myopathy, central fibrillar; Myopathy, central core; Shy-Magee syndrome See More

Categories:

Congenital and Genetic Diseases; Nervous System Diseases

Summary Summary

Central core disease (CCD) is an inherited condition that involves muscle weakness, skeletal abnormalities, and an increased chance of having a severe reaction to some anesthesia medications. Muscle weakness ranges from mild to severe and typically affects muscles in the trunk and upper legs, though muscles in the neck and face can also be affected.^[1]^[2] Skeletal abnormalities may include curving of the spine (scoliosis), dislocation of the hip, or restricted motion in certain joints (contractures). Some individuals with CCD have an increased chance of having a severe reaction to anesthesia, called malignant hyperthermia, which may cause muscle rigidity or break-down (rhabdomyolysis), a high fever, or a rapid heart beat.^[1]^[2] RYR1 is the only gene associated with CCD and clinical testing is available to look for disease-causing alterations in this gene known as pathogenic variants (mutations). Treatment depends on the severity of symptoms and is mainly supportive. Muscle weakness and skeletal abnormalities may benefit from physical therapy or surgery. Avoidance of inhaled anesthetics and succinylcholine can help prevent complications from malignant hyperthermia.^[2]

Last updated: 8/16/2017

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
30%-79% of people have these symptoms
Central core regions in muscle fibers		0030230
Congenital hip dislocation	Dislocated hip since birth	0001374
Easy fatigability		0003388
Joint laxity	Joint instability Lax joints Loose-jointedness Loosejointedness [ more ]	0001388
Kyphoscoliosis		0002751
Malignant hyperthermia		0002047
Mitral valve prolapse		0001634
Motor delay		0001270
Multiple joint contractures		0002828
Muscle stiffness		0003552
Muscular hypotonia	Low or weak muscle tone	0001252
Myopathy	Muscle tissue disease	0003198
Pelvic girdle muscle weakness		0003749
Pes planus	Flat feet Flat foot [ more ]	0001763
Talipes equinovarus	Club feet Club foot Clubfeet Clubfoot [ more ]	0001762
Type 1 muscle fiber predominance		0003803
5%-29% of people have these symptoms
Bulbar signs		0002483
Nemaline bodies		0003798
Ophthalmoplegia	Eye muscle paralysis	0000602
1%-4% of people have these symptoms
Elevated serum creatine kinase	Elevated blood creatine phosphokinase Elevated circulating creatine phosphokinase Elevated creatine kinase Elevated serum CPK Elevated serum creatine phosphokinase High serum creatine kinase Increased CPK Increased creatine kinase Increased creatine phosphokinase Increased serum CK Increased serum creatine kinase Increased serum creatine phosphokinase [ more ]	0003236
Fetal akinesia sequence		0001989
Neonatal respiratory distress	Infantile respiratory distress Newborn respiratory distress Respiratory distress, neonatal [ more ]	0002643
Respiratory insufficiency due to muscle weakness	Decreased lung function due to weak breathing muscles	0002747
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance		0000006
Autosomal recessive inheritance		0000007
Fever		0001945
Flexion contracture	Flexed joint that cannot be straightened	0001371
Generalized muscle weakness		0003324
Infantile onset	Onset in first year of life Onset in infancy [ more ]	0003593
Neonatal hypotonia	Low muscle tone, in neonatal onset	0001319
Nonprogressive		0003680
Skeletal muscle atrophy	Muscle degeneration Muscle wasting [ more ]	0003202
Slow progression	Signs and symptoms worsen slowly with time	0003677

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 8/1/2019

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

Because the symptoms of central core disease can be quite variable, a physical examination alone is often not enough to establish a diagnosis. A combination of the following examinations and testings can diagnosis this condition: a physical examination that confirms muscle weakness, a muscle biopsy that reveals a characteristic appearance of the muscle cells, and/or genetic testing that identifies a mutation in the RYR1.^[2]

Last updated: 9/8/2011

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Orphanet lists international laboratories offering diagnostic testing for this condition.

Treatment Treatment

Treatments for central core disease (CCD) depend on the symptoms experienced by each affected individual. When someone is first diagnosed with this condition, a physical examination is done to assess the extent and severity of muscle weakness, and physical therapy and occupational therapy assessments to determine which therapies might be most beneficial. Physical therapy, such as stretching or low-impact exercises, may help improve weakness. Some skeletal abnormalities can be addressed with physical therapy, though others may require surgery. As the muscle weakness and scoliosis associated with CCD can affect breathing, individuals diagnosed with this condition may benefit from pulmonary function tests. If breathing is significantly affected, breathing exercises or other breathing support treatments may be recommended.^[2] Another treatment option may be a medication called salbutamol, which was found to significantly increased muscle strength and stamina in six of eight children with CCD.^[3]

Last updated: 9/8/2011

Management Guidelines

Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.
Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

Prognosis Prognosis

People with central core disease (CCD) can have very different symptoms, ranging from no symptoms to being unable to walk without assistance. People with CCD tend not to experience any notable worsening of muscle weakness throughout most of their life, however there can be a slow but definite progression over the course of many years.^[4]

Last updated: 2/12/2015

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Central core disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition.

Patient Registry

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Central core disease. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

Registries for Central core disease:
Congenital Muscle Disease International Registry
The RYR-1 Foundation Registry

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Malignant Hyperthermia Association of the United States (MHAUS)
1 North Main ST
PO Box 1069
Sherburne, NY 13460
Toll-free: 1-800-644-9737 (for emergencies, 24 hour)
Telephone: +1-607-674-7901 (none emergency)
E-mail: info@mhaus.org
Website: https://www.mhaus.org/
For emergencies outside of North America, call 001-209-417-3722
Muscular Dystrophy Association (MDA)
222 S Riverside Plaza
Suite 1500
Chicago, IL 60606
Toll-free: 1-833-275-6321 (Helpline)
E-mail: resourcecenter@mdausa.org
Website: https://www.mda.org
Muscular Dystrophy UK
61A Great Suffolk Street
London, SE1 0BU United Kingdom
Toll-free: 0800 652 6352 (Helpline)
Telephone: (+44) 0 020 7803 4800
E-mail: info@musculardystrophyuk.org
Website: https://www.musculardystrophyuk.org/
RYR-1 Foundation
P.O. Box 13312
Pittsburgh, PA 15243
Telephone: 412-529-1482
E-mail: lindsay@ryr1.org
Website: https://www.ryr1.org/

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Central core disease. This website is maintained by the National Library of Medicine.
The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Central core disease. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References

Central core disease. Genetics Home Reference. October, 2007; http://ghr.nlm.nih.gov/condition/central-core-disease.
Malicdan MCV, Nishino I. Central Core Disease. GeneReviews. December 4, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1391/.
Messina S, Hartley L, Main M, Kinali M, Jungbluth H, Muntoni F, Mercuri E. Pilot trial of salbutamol in central core and multi-minicore diseases. Neuropediatrics. 2004; 35:262-266. http://www.ncbi.nlm.nih.gov/pubmed/15534757. Accessed 9/8/2011.
Lamont PJ et al.,. Fifty year follow-up of a patient with central core disease shows slow but definite progression. Neuromuscul Disord. 1998; 8(6):385. Accessed 2/12/2015.