What are RYR-1-Related Diseases?
RYR-1-related diseases are an inherited form of muscle weakness ranging in severity from mild weakness to severe disability. This is due to an inability by muscles to process calcium, a critical component of muscle contraction. Patients are also at risk for a life-threatening complication of general anesthesia (drugs given by a doctor for medical/surgical procedures).
Who gets it?
Patients are born with RYR-1-related diseases, inheriting a defective gene from one or both parents. Click here for more information on genetic testing.
How is it treated?
Currently, there is no treatment for RYR-1-related diseases. This foundation was started to support research, educate patients & families, and raise awareness amongst healthcare providers.