Dysferlinopathy presenting as rhabdomyolysis and acute renal failure

Abstract

Dysferlinopathies are a heterogeneous group of autosomal recessive muscle disorders resulting from defects or deficiencies in dysferlin. Reported phenotypes range from isolated hyperCKemia to muscular dystrophy. We present a 15-year-old male adolescent who was diagnosed with a dysferlinopathy after presenting with acute renal failure secondary to rhabdomyolysis.