About Central Core Disease
Central Core Disease is a congenital myopathy caused by mutations in the RYR1 gene encoding the ryanodine receptor 1, which regulates calcium release from the sarcoplasmic reticulum in skeletal muscle. It is characterised by central cores — areas of reduced oxidative enzyme activity — seen on muscle biopsy. A critical associated risk is malignant hyperthermia susceptibility, a potentially fatal hypermetabolic response to volatile anaesthetic agents and succinylcholine.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Central Core Disease trials.
Muscle biopsy with NADH-TR staining showing central cores is essential for diagnosis confirmation required by most trials; electron microscopy may be additionally requested
All RYR1-related trials require documentation of MH risk status and prior anaesthetic history — carry an MH alert card to all pre-trial assessments
RYR1 mutation spectrum is broad (dominant vs recessive, gain-of-function vs loss-of-function); genotype-stratified trials are increasingly common so precise variant characterisation matters
Patient Resources
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