The European Academy of Neurology (EAN), the leading European professional body in neurology, has brought together experts to discuss the diagnostic approach to be adopted in cases of chronic elevation of CPK-type muscle enzymes:
- this condition is thought to affect 1.3% of the general population, whether individuals are asymptomatic or have few symptoms,
- various scenarios were reviewed, with varying degrees of consensus among the experts,
- according to them, hyperCKemia exceeding 1.5 times the normal threshold requires further investigation,
- testing for acid maltase deficiency (using filter paper) should be routine,
- whole-exome sequencing is recommended over neuromuscular gene panels,
- muscle imaging is becoming increasingly important.
After reviewing situations where CPK levels may be physiologically elevated (particularly depending on gender and ethnicity), the authors also detail the cases in which a muscle biopsy may prove useful.
