hyperCKemia (elevated serum creatine phosphokinase)

Pathology

• no evidence of neuromuscular disease
• muscle biopsy and exercise lactic acid production are normal

Genetics

• associated with defects in caveoalin-3 (CAV3)

Clinical manifestations

• patients may describe muscle cramps with exertion
• no muscle weakness

Laboratory

• persistent elevated levels of serum creatine kinase

Complications

• familial trait that can plague a physician & geneticist counseling a family with muscular dystrophy

More general terms

• muscular disease; myopathy

Database

• OMIM: https://mirror.omim.org/entry/123320