What are the AAN/AANEM diagnostic guidelines for limb-girdle or distal muscular dystrophy?

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

Clinicians should use a clinical approach to guide genetic diagnosis based on the clinical phenotype, including the following (level B):

  • Pattern of muscle involvement
  • Inheritance pattern
  • Age at onset
  • Associated manifestations (eg, early contractures, cardiac or respiratory involvement)

In patients with suspected MD in whom initial clinically directed genetic testing does not provide a diagnosis, clinicians may obtain genetic consultation or perform any of the following to identify the genetic abnormality (level C):

  • Parallel sequencing of targeted exomes
  • Whole-exome sequencing
  • Whole-genome screening
  • Next-generation sequencing

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