Isolated hyperCKemia | |
---|---|
Other names | Asymptomatic hyperCKemia |
Specialty | Medical genetics |
Symptoms | None other than high levels of creatine kinase in the blood |
Complications | None |
Usual onset | Birth |
Duration | Life-long |
Causes | Genetic mutation |
Diagnostic method | Genetic testing |
Prevention | none |
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]
Original source: https://en.wikipedia.org/wiki/Isolated hyperCKemia.
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