Exercise capacity in RYR1-related myopathies.

ABSTRACT:

Background

Pathogenic variations affecting the ryanodine receptor 1 (RYR1) gene may result in a variety of neuromuscular disorders, collectively known as RYR1-related myopathies. Considered the most common form of congenital myopathy, individuals with RYR1-related myopathies may experience skeletal muscle weakness and fatigue, as well as reduced functional capacity. This study examined the exercise capacity in individuals with RYR1-related myopathies during a cardiopulmonary exercise test.

Methods

Ambulatory individuals (32 adults, 16 children) with genetically confirmed RYR1-related myopathies performed exercise testing on a cycle ergometer and a six-minute walk test at baseline and month six (pre-intervention phase) of a randomized controlled trial (NCT02362425). Outcomes

SUBMITTER: Chin LMK 

PROVIDER: S-EPMC12461967 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature