central core disease


Also found in: Acronyms.

cen·tral core dis·ease

[MIM*117000]
a congenital myopathy characterized by hypotonia, delay of motor development in infancy, and nonprogressive or slowly progressive muscle weakness; on biopsy the central core of muscle fibers stains abnormally, myofibrils are abnormally compact, and there is virtual absence of mitochondria and sarcoplasmic reticulum; histochemically, the cores are devoid of oxidative enzyme, phosphorylase, and ATPase activity; autosomal dominant inheritance, often subclinical, caused by mutation in the ryanodine receptor-1 gene (RYR1) on 19q.

central core disease

an autosomal-dominant muscle disorder characterized by dense, amorphous hyaline changes in the central portion of the myofibrils, which lack organelles. Onset is in infancy and causes delayed motor development, especially in the lower limbs. Also called Shy-Magee syndrome.

central core disease

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.
References in periodicals archive ?
2+] signaling in HEK-293 and skeletal muscle cells expressing recombinant ryanodine receptors harboring malignant hyperthermia and central core disease mutations.
Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia.
6; ARVD2, arrhythmogenic right ventricular cardiomyopathy, type 2; VTSIP, ventricular tachycardia, stress-induced, polymorphic; DHPLC, denaturing HPLC; SNP, single-nucleotide polymorphism; MH, malignant hyperthermia; and CCD, central core disease.
Before having surgery, people who have a personal or family history of central core disease -- or any other myopathy -- should consult their doctors about the risks of anesthesia and about the availability of "nontriggering" anesthetics.
First described in 1956, central core disease is a slowly progressive disease of voluntary muscle, or those necessary for movement.
People who have central core disease are sometimes susceptible to malignant hyperthermia, a condition brought on by anesthesia during surgery.
Investigators now know which region of which chromosome holds the flawed gene responsible for central core disease and malignant hyperthermia.
Symptoms of central core disease often are not very severe.
Studying a small piece of muscle taken from an individual during a muscle biopsy is a useful part of the diagnosis for a number of myopathies, especially central core disease, nemaline myopathy and myotubular myopathy.

Full browser ?