Individuals and Families Affected by RYR1-Related Diseases: The Patient/Caregiver Perspective.

ABSTRACT:

Background and objective

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.

Methods

Together with affected individuals, family members, and adv

SUBMITTER: van de Camp SAJH 

PROVIDER: S-EPMC11380281 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature