Isolated hyperCKemia | |
Synonyms: | Asymptomatic hyperCKemia |
Symptoms: | None other than high levels of creatine kinase in the blood |
Complications: | None |
Onset: | Birth |
Duration: | Life-long |
Prevention: | none |
Management: | --> |
Medication: | None required |
Prognosis: | Good |
Frequency: | Unknown, since almost all cases are asymptomatic |
Isolated hyperCKemia is a benign[1] genetic disorder which is characterized by high levels of creatine kinase (an enzyme) in the blood, usually, levels of CK in the blood of people with this disorder are 3 to 10 times higher than average. Unlike what most people experience when their CK blood levels are high,[2] people with this disorder don't experience any symptoms, less commonly, people with isolated hyperCKemia have microscopic muscle cell abnormalities. This condition is a type of caveolinopathy since it is associated with the CAV3 gene, in chromosome 3.[3] [4] Although it is asymptomatic, people with this variant of hyperCKemia have an elevated risk of suffering from malignant hyperthermia.[5]