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

Updated: Aug 17, 2020
  • Author: Twee T Do, MD; Chief Editor: Jeffrey D Thomson, MD  more...
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Like the 2015 FSHD guidelines, the AAN/AANEM contain no level A recommendations. The key recommendations include the following [77] :

  • Physicians caring for children with CMD should consult a pediatric neuromuscular specialist for diagnosis and management (level B)
  • Pediatric neuromuscular specialists should coordinate the multidisciplinary care of patients with CMD when such resources are accessible to interested families (level B)
  • When genetic counselors are available to help families understand genetic test results and make family-planning decisions, help should be given to families to access such resources (level B)
  • Physicians should use relevant clinical features such as ethnicity and geographic location, patterns of weakness and contractures, the presence or absence of central nervous system involvement, the timing and severity of other organ involvement, and serum creatine phosphokinase (CK) levels to guide diagnosis in collagenopathies and in dystroglycanopathies (level B)

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