Recurrent rhabdomyolysis and an autosomal dominant family history of scoliosis: clinical features leading to a diagnosis of metabolic myopathy

Exertional rhabdomyolysis is typically associated with metabolic or mitochondrial myopathies; however, there are important causes such as muscular dystrophies. Herein we describe a case of recurrent exertional rhabdomyolysis in which the diagnosis of RYR1 associated disease was made on clinical presentation avoiding the need for extensive or invasive investigation.