Monograph: Guidelines for genetic testing of muscle and neuromuscular junction disorders-Article

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The document provides guidelines for genetic testing in muscle and neuromuscular junction disorders. It suggests an approach based on the patient's phenotype, recommending directed testing or comprehensive gene panel using next-generation sequencing (NGS) depending on the specific myopathy. It highlights the importance of including genes responsible for congenital myasthenic syndromes and considering acquired mimickers. Specific disorders and their diagnostic approaches are discussed, along with the role of muscle biopsy and alternative testing methods. The document concludes by emphasizing the benefits of genetic testing in treatment, prognostication, counseling, and clinical trial enrollment. The limitations of genetic testing are also mentioned, with suggestions for alternative testing options and considerations for acquired myopathies.

Keywords

genetic testing

muscle disorders

neuromuscular junction disorders

phenotype

directed testing

comprehensive gene panel

next-generation sequencing

myopathy

congenital myasthenic syndromes