RYR1
Associated conditions:
- Central core disease
RYR1 makes the main channel that releases stored calcium to make skeletal muscle contract. Genetic changes in this gene are associated with an autosomal dominant risk of central core disease with muscle weakness, and critically can make a person prone to malignant hyperthermia, a life-threatening reaction to certain anaesthetics, though not all variants in this gene carry that risk; when both copies are altered, changes are associated with an autosomal recessive form of myopathy, a more serious childhood condition. Knowing your genetic status enables anaesthetists to choose safe drugs for surgery.
Conditions linked to RYR1
Central core disease
Central core disease is an inherited muscle condition causing muscle weakness, and it carries a risk of malignant hyperthermia, a severe reaction to certain general anaesthetics. Knowing your status lets anaesthetic teams avoid the trigger drugs.
