About RYR-1

Learn about the rare disease that is recessive RYR-1

RYR-1 myopathy is an inherited disease that can present a range of symptoms, from the almost undetectable to the potentially lethal. It is known as an “orphan disease” because it is rare and impacts a relatively small number of people, roughly one in 10,000.


RYR-1-related diseases are inherited forms of muscle disease resulting in a wide range of symptoms, including muscle weakness, a potentially fatal reaction to general anesthesia (malignant hyperthermia), and rhabdomyolysis. Individuals are born with RYR-1-related diseases, inheriting a defective mutation from one or both parents, or a spontaneous mutation (de novo). Mutations or changes in the RYR1 gene are the most common cause of congenital muscle disease.

To learn even more about RYR-1, please visit the RYR-1 Foundation website. You can learn about symptoms, current research, and about their impact across the globe.