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

ANNOUNCEMENTS:

March 24, 2020: The 2020 RYR-1 International Family Conference has been cancelled

March 16, 2020: Coronavirus (COVID-19) & RYR-1-Related Diseases: Webinar with Dr. Oscar "Hank" Mayer

January 7, 2020: 2019: A Year In Review

November 8, 2019: 2020 RYR-1 International Family Conference

August 30, 2019: RYR-1 Foundation Raises $6,150 at Benefit Dinner & Screening of "Hodgson" Documentary

July 19, 2019: Exciting Developments for the RYR-1 Foundation

July 17, 2019: RYR-1 Foundation Benefit Dinner &
Screening of “Hodgson” Documentary

November 19, 2018: Screening of "Hodgson" Documentary: A First Look

June 5, 2018: The RYR-1 Foundation Announces Live-Streaming of the 2018 RYR-1 International Family Conference

May 1, 2018: RYR-1 Foundation Adds New Members to Its Scientific Advisory Board

 

February 7, 2018: RYR-1 Foundation Announces Collaboration with German Muscle Disease Organization

 

January 19, 2018: Hike for Team Nolan

 

January 16, 2018: Israman Race Participants Support the RYR-1 Foundation

 

October 23, 2017: The 2018 RYR-1 International Family Conference

September 25, 2017: Dinner & Screening of RYR-1 Foundation Documentary

 

August 10, 2017: "RYR-1-Related Diseases" is now an Entry on the NORD Website

 

June 13, 2017: Premiere of the RYR-1 Foundation Documentary

 

April 4, 2017: RYR-1 Foundation Announces Over $500,000 in Research Grant Funding

 

March 27, 2017: Team Klara Wild Half Run to Support the RYR-1 Foundation

 

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.