Dysferlinopathy as cause of long-term hyperCKemia with preserved strength

Dysferlinopathy should be considered in the differential diagnosis of metabolic myopathies and asymptomatic hyperCKemia. Patient 1's long history of hyperCKemia without weakness over two decades suggests that CK elevation in dysferlinopathy does not necessarily predict development of weakness. Additionally, the lack of dystrophic changes on muscle biopsy of patients with asymptomatic or minimally symptomatic hyperCKemia should not discourage the search for dysferlin deficiency in muscle, particularly in the setting of DYSF variants.