According to CDC guidelines, how is a diagnosis of Duchenne muscular dystrophy (DMD) confirmed?

Updated: Aug 17, 2020
  • Author: Twee T Do, MD; Chief Editor: Jeffrey D Thomson, MD  more...
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Answer

In patients with increased CK levels, the following steps should be taken to confirm the diagnosis of DMD [72] :

  • If muscle biopsy shows presence of dystrophin protein, DMD is excluded
  • If muscle biopsy show absence of dystrophin protein, dystrophin deletion/duplication testing is performed, and deletion or duplication mutation confirms diagnosis of DMD
  • If deletion/duplication testing is negative, then dystrophin genetic sequencing is performed to look for point mutations or small deletions/insertions
  • A muscle biopsy is not necessary if genetic testing is done, but may be useful to distinguish milder phenotypes

Electromyography and nerve conduction studies are no longer considered necessary for the assessment of DMD. Neuromuscular assessments (ie, strength, range of motion, posture, gait, timed testing, activities of daily living, motor function) are made after diagnosis to inform intervention decisions and are subsequently repeated to monitor response to therapy.


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