Rare Brody myopathy: A case report

Brody myopathy is a rare autosomal recessive disorder caused by mutations in the ATP2A1 gene, which encodes for sarcoplasmic reticulum Ca++-ATPase (SERCA1) pump in the fast twitch skeletal muscle fibers.

Patient is a 19-year-old woman presenting with exercise-induced rhabdomyolysis. Genetic testing confirmed a pathologic ATP2A1 mutation affecting SERCA1 function in type 2 muscle fibers. The patient experienced significant functional limitations due to impaired calcium reuptake and prolonged muscle contraction.

Treatment with dantrolene sodium resulted in marked clinical improvement. The patient demonstrated enhanced muscle relaxation, reduced exercise-induced stiffness, and improved functional capacity following dantrolene therapy.

This case demonstrates the therapeutic efficacy of dantrolene (off-label) in managing Brody myopathy symptoms. Given the rarity of this condition, further documentation of successful treatment strategies is crucial for establishing evidence-based management protocols for patients with ATP2A1-related myopathy.