Central core disease
Other Names for this Disease
- Central core disease of muscle
- Muscle core disease
- Muscular central core disease
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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. 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.
Last updated: 9/8/2011
- Malicdan MCV, Nishino I. Central Core Disease. GeneReviews. May 11, 2010; http://www.ncbi.nlm.nih.gov/books/NBK1391/. Accessed 9/6/2011.
- 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.
- Finding Treatment Information - A video developed by GARD Information Specialists that explains how you can find information about treatment for a rare disease.
- 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.
- 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.