Duchenne muscular dystrophy laboratory findings

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Fahimeh Shojaei, M.D.

Overview

Laboratory findings consistent with the diagnosis of Duchenne muscular dystrophy include increased level of CPK, transaminases, and aldolase.

Laboratory findings consistent with the diagnosis of Duchenne muscular dystrophy include:^[1]^[2]^[3]^[4]

Increased CK
- If a physician suspects DMD after examining the boy they will use a CPK (creatine phosphokinase) test to determine if the muscles are damaged.
- In DMD patients CPK leaks out of the muscle cell into the blood, and the high level of CPK in these patients is an evidence of muscle damage.
- These patients may have CPK as high as 15,000 to 35,000iu/l (normal = 60iu/l).
Increased aldolase levels
Aspartate transaminase (AST)
Alanine transaminase (ALT)

NOTE: After few years, as the disease progress and muscle cells are replaced by fat, these enzymes will be back to their normal levels.

↑ Mendell JR, Shilling C, Leslie ND, Flanigan KM, al-Dahhak R, Gastier-Foster J, Kneile K, Dunn DM, Duval B, Aoyagi A, Hamil C, Mahmoud M, Roush K, Bird L, Rankin C, Lilly H, Street N, Chandrasekar R, Weiss RB (March 2012). “Evidence-based path to newborn screening for Duchenne muscular dystrophy”. Ann. Neurol. 71 (3): 304–13. doi:10.1002/ana.23528. PMID 22451200.
↑ McMillan HJ, Gregas M, Darras BT, Kang PB (January 2011). “Serum transaminase levels in boys with Duchenne and Becker muscular dystrophy”. Pediatrics. 127 (1): e132–6. doi:10.1542/peds.2010-0929. PMID 21149430.
↑ Okinaka, S. (1961). “Serum Creatine Phosphokinase”. Archives of Neurology. 4 (5): 520. doi:10.1001/archneur.1961.00450110050006. ISSN 0003-9942.
↑ Soltan, Hubert C.; Blanchaer, Marcel C. (1959). “Activity of serum aldolase and lactic dehydrogenase in patients affected with duchenne muscular dystrophy and in their immediate relatives”. The Journal of Pediatrics. 54 (1): 27–33. doi:10.1016/S0022-3476(59)80033-0. ISSN 0022-3476.