In Focus: Central Core Disease (CCD)


Article Highlights:

In addition to "Fast Facts" about central core disease, this series contains six additional sections, links to which can be found at the bottom of this page. These include:

  • "CCD: A Disease with Many Faces," which looks at disease symptoms, progression and management
  • "Getting to the Core of CCD," an examination of the biology underlying the disease
  • "Malignant Hyperthermia: A Preventable Disaster," information about this dangerous condition that affects some with CCD
  • "Genetic Testing for CCD and MHS," contact information for labs that test for CCD or malignant hyperthermia susceptibility (MHS)
  • "Surprised by Progression," a description of the experiences of a woman with CCD
  • "Normal is Overrated," a description of the experiences of a teen with CCD
by Margaret Wahl on April 1, 2010 - 4:07pm

QUEST Vol. 17, No. 2

This special report focuses on central core disease (CCD), a genetic muscle disease characterized by the appearance of corelike structures running through the centers of muscle fibers. The cores are areas of metabolic inactivity.

 

Fast Facts about CCD

Symptoms vary widely in severity and can begin anywhere from infancy to adulthood. They include weakness, muscle cramps, orthopedic abnormalities (spinal curvature, foot deformities, hip dislocations) caused by the weakness, and a dangerous susceptibility to malignant hyperthermia, an adverse reaction to anesthesia.

The disease is usually dominantly inherited, meaning only one gene mutation, inherited from one parent, is necessary to cause symptoms.

The underlying molecular cause of the disease is an abnormality of calcium release from deep inside the muscle fibers. Normally, a signal from a nerve fiber tells a muscle fiber to contract and, after a cascade of events, calcium is released in a burst from internal storage areas. Calcium is then pumped back into the storage areas until the next contraction.

Some of the approximately 50 disease-causing defects so far identified in the internal calcium release channel (the ryanodine receptor) cause abnormal leakage of calcium into the fiber and depletion of internal calcium stores. Others cause a blockage of calcium release.

MDA’s current commitment to research in CCD, as of Jan. 25, 2010, is $1,156,989, spread over seven grants.

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