Central core disease

Central core disease (CCD) is a relatively rare genetic disorder usually detected in infancy or early childhood. Central core disease tends to affect males and females in equal numbers. It is an autosomal dominant trait. Although less common, CCD has occurred spontaneously without a family history. This disease is characterized by abnormalities of skeletal muscles. Associated symptoms include diminished muscle tone, muscle weakness, delays in motor development, and musculoskeletal problems such as a dislocated hip at birth. In addition, CCD is associated with susceptibility to malignant hyperthermia. Malignant hyperthermia is a potentially life-threatening reaction to muscle relax-ants and anesthetics. For this reason, it is essential that this risk be taken into consideration by surgeons, anesthesiologists, dentists, and other health care providers when making decisions regarding medical or dental treatments (Online Mendelian Inheritance in Man, 2000).


A rare, congenital muscle disease characterized by muscular weakness or hypotonia in infancy due to impaired release of calcium by skeletal muscle. Calcium is a crucial cofactor in muscle contraction.


 


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