What are the AAN/AANEM recommendations for the diagnosis of congenital muscular dystrophy?

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

Diagnosis

AAN/AANEM recommendations regarding diagnosis include the following:

  • Immunohistochemical staining for relevant proteins in CMD cases may be included in muscle biopsies when the subtype-specific diagnosis is not apparent after initial diagnostic studies, if the risk associated with general anesthesia is determined to be acceptable (level C)
  • When muscle biopsies are indicated, they should be performed and interpreted at centers experienced in this test modality; in some cases, optimal diagnostic information may be derived when the biopsy is performed at one center and interpreted at another (level B)
  • Magnetic resonance imaging (MRI) may assist with the diagnosis of patients with clinically suspected CMD subtypes such as merosinopathies and dystroglycanopathies, if the potential risk associated with any sedation is determined to be acceptable and if a radiologist or other physician with the appropriate expertise is available to interpret the findings (level B)
  • Consider muscle imaging studies of the lower extremities for individuals with suspected CMD subtypes such as collagenopathies (ultrasonography or MRI) and  SEPN1-related myopathy (MRI), if the risk associated with any sedation needed is determined to be acceptable and if a radiologist or other physician with the appropriate expertise is available to interpret the findings (level C)
  • Consider targeted genetic testing for specific CMD subtypes that have well-characterized molecular causes when available and feasible (level C)
  • In individuals who do not have a mutation identified in one of the commonly associated genes or who have a phenotype whose genetic origins have not been well characterized, whole-exome or whole-genome sequencing may be used if those technologies become more accessible and affordable for routine clinical use (level C)

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