What is the role of lab testing in the workup of congenital myopathies?

Updated: Mar 11, 2019
  • Author: Matthew Harmelink, MD; Chief Editor: Amy Kao, MD  more...
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Answer

Creatine kinase (CK) level is typically either normal or mildly elevated (2–5 times the normal range) in all of the congenital myopathies. There is some suggestion that more moderately elevated levels can be seen in central core disease as well as asymptomatic carriers of the ryanodine receptor mutation in CCD.

If the CK level is very high (>5 times the upper limit of normal), this is suggestive of a muscular dystrophy.


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