What is the role of lab tests in the workup of congenital muscular dystrophy (CMD)?

Updated: Jul 03, 2019
  • Author: Emad R Noor, MBChB; Chief Editor: Amy Kao, MD  more...
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Answer

Persons with Ullrich congenital muscular dystrophy, rigid spine with muscular dystrophy (deficiency of selenoprotein N), and integrin-α7 deficiency have creatine kinase (CK) levels that are normal to mildly elevated (≤5 times normal).

CK levels are usually more than 1000 in patients with congenital muscular dystrophy with familial junctional epidermolysis bullosa.

CK levels are mildly to markedly elevated (2-150 times normal) in most patients with congenital muscular dystrophy due to abnormal glycosylation or with laminin-α2 mutations.


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