![Individuals and Families Affected by RYR1-Related Diseases – The Patient/Caregiver Perspective Individuals and Families Affected by RYR1-Related Diseases – The Patient/Caregiver Perspective](https://ryr1.org/wp-content/uploads/2024/08/Screenshot-2024-08-20-at-10.23.16 PM.jpg)
Individuals and Families Affected by RYR1-Related Diseases – The Patient/Caregiver Perspective
Sanne A.J.H. van de Camp, Lizan Stinissen, Andrew Huseth, Brentney Simon, Jennifer Ryan, Anna Sarkozy , Filip Van Petegem, Michael F. Goldberg, Heinz Jungbluth, Johann Bohm, Wija Oortwijn, Robert T. Dirksen and Nicol C. Voermans
Abstract
Pathogenic variants of RYR1, the gene encoding the principal sarcoplasmic reticulum calcium release channel (RyR1) with a crucial role in excitation-contraction coupling, are among the most common genetic causes of non-dystrophic neuromuscular disorders. We recently conducted a questionnaire study focusing on functional impairments, fatigue, and quality of life (QoL) in patients with RYR1-related diseases (RYR1-RD) throughout the recognized disease spectrum. In this previous questionnaire study the medical perspective was taken, reflective of a study protocol designed by neurologists and psychologists. With this present study we wanted to specifically address the patient perspective.