Guidelines for genetic testing of muscle and neuromuscular junction disorders.
congenital myasthenic syndrome
genetic testing
guideline
inherited myopathy
muscular dystrophy
myotonic dystrophy
next-generation sequencing
Journal
Muscle & nerve
ISSN: 1097-4598
Titre abrégé: Muscle Nerve
Pays: United States
ID NLM: 7803146
Informations de publication
Date de publication:
09 2021
09 2021
Historique:
received:
28
05
2021
accepted:
28
05
2021
pubmed:
17
6
2021
medline:
22
9
2021
entrez:
16
6
2021
Statut:
ppublish
Résumé
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 continue to face delays in diagnosis of sometimes treatable disorders. These guidelines outline an approach to genetic testing in such disorders. Initially, a patient's phenotype is evaluated to identify myopathies requiring directed testing, including myotonic dystrophies, facioscapulohumeral muscular dystrophy, oculopharyngeal muscular dystrophy, mitochondrial myopathies, dystrophinopathies, and oculopharyngodistal 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 overlap and treatment implications, genes responsible for congenital myasthenic syndromes 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.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
255-269Informations de copyright
Copyright © 2020 by the American Association of Neuromuscular & Electrodiagnostic Medicine, Inc. All rights reserved.
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