A US-based sister charity, The RYR-1 Foundation, recently announced their publication of the Clinical Care Guidelines: ​What Patients & Families Need to Know About RYR-1-Related Diseases.​ This handbook is written in non-technical, easily understood language to empower patients and families with RYR-1-related diseases to improve their care and quality of life, including those who have centronuclear myopathy (CNM) arising from recessive RYR1 mutations.

How the RYR1 gene affects people with Centronuclear Myopathy

This mutation is very rare and affects only a few UK patients. Centronuclear myopathy (CNM) arising from recessive RYR1 mutations may progress slowly. Muscle weakness with CNM (RYR1) can begin at any time from birth to early childhood.  Children with CNM (RYR1) take longer to crawl or walk.  People with CNM also show weakness in the facial muscles. The eye muscles do not work as well and the upper eyelids can droop.  Some people with CNM (RYR1) may need wheelchairs and may require support for breathing.

Accessing the RYR1 Clinical Care Guidelines

The RYR-1 Foundation say they are ‘making every effort to ensure the ​Clinical Care Guidelines​ is widely accessible to the entire RYR-1 community, regardless of geographic location, spoken language, socio-economic status, or education level. As the only organization dedicated solely to RYR-1-related diseases and with a large worldwide following, the RYR-1 Foundation is confident that it is the ideal organization to not only create the ​Clinical Care Guidelines,​ but also to ensure its availability to the maximum number of people. In the coming months, there will be versions of the document translated into numerous different languages’.

To access the handbook and read more, please click here.

About the RYR-1 Foundation

The Pittsburgh, Pennsylvania-based public charity was launched in October 2014 by members of the Goldberg family, who have been affected by an RYR-1-related disease. It is currently the only organization that exists solely to advocate for and serve the needs of patients with RYR-1 myopathy, the most common cause of congenital myopathy. The mission of the RYR-1 Foundation is to support research leading to effective treatment or a cure for RYR-1-related diseases, to educate physicians about these diseases, and to provide patient/family support and advocacy. To learn more about the RYR-1 Foundation, please go to www.ryr1.org​