Persistent elevation of serum creatine kinase (hyperCKemia) in individuals with normal neurological and laboratory examinations has been called idiopathic hyperCKemia. HyperCKemia usually accompanies muscle weakness in patients with myopathies, but it may also be found in subjects with a normal neurological examination. This condition is labeled asymptomatic or isolated hyperCKemia and may be due to subclinical or preclinical neuromuscular disorders, dystrophinopathy carrier state, hypothyroidism, hypoparathyroidism, alcoholism, or intake of statins and other drugs. When the cause is not found, even after extensive investigations, the condition is defined as idiopathic hyperCKemia. Mutations in the human CAV3 gene, leading to reduced expression of caveolin-3, which is the major muscle-specific caveolar protein, may result in hyperCKemia.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C53 Inborn errors of energy metabolism
H02181 Idiopathic hyperCKemia
