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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Central core disease


Other Names for this Disease
  • CCD
  • CCO
  • Central core disease of muscle
  • Muscle core disease
  • Muscular central core disease
More Names
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Your Question

After 34 years of living with central core disease, I just found out the name of this condition one month ago.  My lower back doesn't seem to work, and I wonder if I will ever be able to walk up stairs or run.  What type of treatment do I need?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is central core disease?

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]  Muscle weakness in CCD usually does not worsen over time.  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 mutations.[2]
Last updated: 9/8/2011

How is central core disease diagnosed?

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

What treatments might be available for central core disease?

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

References