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

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 ?
Viollet et al., "Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia," Brain, vol.
Keating et al., "Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia," Nature Genetics, vol.
McKay, "Malignant hyperthermia and central core disease in a child with congenital dislocating hips," Archives of Neurology, vol.
Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes.
Altered ryanodine receptor function in central core disease: leaky or uncoupled Ca(2+) release channels?
Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.
(5) Nonstandard abbreviations: RyR1, RyR2, and RyR3, ryanodine receptor type 1, 2, and 3; FKBP12.6, FK506-binding protein 12.6; 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.
[4] Nonstandard abbreviations: MH, malignant hyperthermia; IVCT, in vitro contracture test; RyR1, ryanodine receptor; MHS, MH susceptible; CCD, central core disease; DHPLC, denaturing HPLC; and MHE, MH equivocal.
People with central core disease aren't always susceptible to malignant hyperthermia.
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.

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