Conditions / Genetic
isolated elevated serum creatine phosphokinase levels
info · Genetic
An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has_material_basis_in in some cases in heterozygous mutation in the CAV3 gene on chromosome 3p25.3.
Signs and symptoms
- Abnormal muscle fiber morphology
- Elevated circulating creatine kinase activity
- Increased muscle fatiguability
- Myopathy
- Muscle spasm
- Muscular dystrophy
- Fatigue
- Inflammatory myopathy
- Mitochondrial myopathy
- Exercise-induced muscle cramps
Also known as: elevated serum CPK; idiopathic hyperCKemia; isolated hyperCKemia