Exercício físico para pessoas com mutação no gene RYR1

Abstract

RYR1-related myopathies are hereditary neuromuscular disorders characterized by alterations in intracellular calcium release, impairing the excitation–contraction coupling process in skeletal muscle. These alterations may cause muscle weakness, early fatigue, exercise intolerance, reduced functional capacity, recurrent rhabdomyolysis, and susceptibility to malignant hyperthermia. In this context, physical exercise emerges as a complementary therapeutic strategy for maintaining functionality and improving physical capacity. Objective: to analyze the effects of physical exercise in individuals with RYR1-related myopathy. Method: This study used an indirect bibliographic review strategy. The search was conducted using the PICo strategy, including articles published in Portuguese and English between 2000 and 2025, retrieved from the databases Scientific Electronic Library Online (SciELO), PubMed, Cochrane Library, Google Scholar, and international open-access journals, encompassing the Research Line in Sports and Health Sciences of the Center for Studies and Research in Physical Education. Results: The analyzed literature showed that individuals with RYR1-related myopathies present reduced functional capacity, early fatigue, and lower exercise tolerance. The studies also indicate that supervised, individualized, low- to moderate-intensity physical exercise may contribute to the maintenance of muscle strength, functional endurance, and quality of life, provided that the risks associated with intense physical effort are respected. Final Considerations: physical exercise proved to be a promising complementary therapeutic strategy for individuals with RYR1-related myopathy, provided that it is performed safely, individually, and under professional supervision, respecting the physiological and clinical limitations of this population.