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Central Core Disease (CCD)
Definition - one of a group of diseases that
cause problems with the tone and contraction of skeletal muscles
Cause - multiple origins; commonly caused by defects in a gene that
carries instructions for a molecular "gate" that releases calcium from inside
muscle cells
Onset - congenital; at or near birth
Symptoms - poor muscle tone (hypotonia) and persistent muscle weakness in
infants; usually motor milestones reached late; skeletal deformities, including
joint dislocations and scoliosis, often occur; susceptibility to malignant
hyperthermia, a dangerous adverse reaction to anesthesia
Progression - slow or no progression
Inheritance - autosomal dominant, or produced by a defective gene
contributed by one parent; possibly autosomal recessive, or produced by
defective genes contributed by both parents, in rare cases