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. 

Contact: 

P.O. Box 13312, Pittsburgh, PA 15243

© 2014 by The RYR-1 Foundation. 

Phone:

412-529-1482

The information provided by The RYR-1 Foundation on this site or by any links to this site is for educational purposes only. It should not be interpreted as a recommendation for a specific treatment plan, product, medical, or healthcare provider. Use of this web site does not replace medical consultations with a qualified professional to meet the individual’s needs. In addition, medical information can change rapidly; therefore, some information may be out of date, and/or contain inaccuracies or typographical errors. Ultimately, if you have concerns about your health, particularly RYR-1 related diseases, you should consult your health care provider.