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AANEM Practice Topic: Guidelines for genetic testing of muscle and neuromuscular junction disorders
Monograph: Guidelines for genetic testing of muscle and neuromuscular junction disorders
CME Available -
Despite recent advances in the understanding of inherited muscle and neuromuscular junction diseases, as well as the advent of a wide range of genetic tests, patients con-tinue to face delays in diagnosis of sometimes treatable disorders. These guidelines outline an approach to genetic testing in such disorders. Initially, a patient's pheno-type is evaluated to identify myopathies requiring directed testing, including myo-tonic dystrophies, facioscapulohumeral muscular dystrophy, oculopharyngeal muscular dystrophy, mitochondrial myopathies, dystrophinopathies, and ocu-lopharyngodistal myopathy. Initial investigation in the remaining patients is generally a comprehensive gene panel by next-generation sequencing. Broad panels have a higher diagnostic yield and can be cost-effective. Due to extensive phenotypic over-lap and treatment implications, genes responsible for congenital myasthenic syn-dromes should be included when evaluating myopathy patients. For patients whose initial genetic testing is negative or inconclusive, phenotypic re-evaluation is warranted, along with consideration of genes and variants not included initially, as well as their acquired mimickers.

The AANEM is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

All conflicts of interest have been resolved according to ACCME standards. All authors/planners of this activity had nothing to disclose. 

The AANEM designates this enduring material for a maximum of 2.0 AMA PRA Category 1 Credits TM. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Credit expires 9/6/2024.
Stefan Nicolau, MD; Margherita Malone, MD, PhD; Teerin Liewluck, MD.
Availability: On-Demand
Expires on Sep 06, 2024
Cost: Member: $0.00
Non-Member: $15.00
Credit Offered:
2 CME Credits
2 CEU Credits
2621 Superior Drive NW Rochester, MN 55901
Phone: 507.288.0100
Fax: 507.288.1225
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