Duchenne muscular dystrophy laboratory findings

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

Overview

An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].

OR

Laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].

OR

[Test] is usually normal for patients with [disease name].

OR

Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].

OR

There are no diagnostic laboratory findings associated with [disease name].

Laboratory Findings

Laboratory findings consistent with the diagnosis of Duchenne muscular dystrophy include:

• 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 transaminase level
• 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 enzyme will be back to their normal levels.