Functional limitation, fatigue and quality of life in people with RYR1-related myopathies

Takeaway

  • People with RYR1-related disorders suffer from severe fatigue, functional limitation and impaired physical and social function, resulting in a substantially reduced quality of life.

Why this matters

  • Despite often being considered mild conditions, people with RYR1-mutated myopathies may have a greater need for care than originally anticipated.