A case of exertional rhabdomyolysis with RYR1 gene variation

Abstract

The etiology of rhabdomyolysis in adults is multifaceted, with one cause being physical exertion, termed exertional rhabdomyolysis (ERM). Characterized primarily by the destruction of muscle cells, ERM results in the release of intracellular contents into the bloodstream, leading to a spectrum of symptoms, including myalgia, dark urine, weakness, and marked elevations in serum creatine kinase (CK) and myoglobin levels. Some patients experience recurrent symptoms, persistently high serum CK levels (exceeding 50 times the normal upper limit), or unexplained severe manifestations. Despite this, the underlying pathogenesis remains elusive in numerous cases. Recent studies have implicated mutations in the RYR1 gene as a potential cause of exercise-induced ERM. This report describes a patient presenting with ERM and a heterozygous RYR1 gene missense mutation. Following treatment with fluid resuscitation, metabolic optimization, and antioxidant therapy, the patient exhibited clinical and biochemical improvement.

Keywords

• ryanodine receptor 1 (ryr1)
• mutation
• exertional rhabdomyolysis
• creatine kinase