Title: | Congenital Myasthenic Syndromes Overview : Synonym: Congenital Myasthenia |
Journal : | GeneReviews® [Internet] |
Authors: | Abicht A ; Müller J ; Lochmuller H |
Material Type: | Article |
Publication Date: | 23/12/2021 |
Languages: | English |
Keywords : | congenital myasthenic syndrome ; diagnosis ; differential diagnosis ; diseases classifications ; diseases descriptions ; epidemiology ; etiology ; genetic counseling ; genetic diagnosis ; genotype-phenotype correlation ; medical monitoring ; medical treatment ; neuromuscular junction disease ; pharmacotherapy ; pregnancy ; prevention of complications ; prise en charge pluridisciplinaire ; review article |
Abstract: |
Initial Posting: May 9, 2003; Last Update: December 23, 2021.
The purpose of this overview is to increase the awareness of clinicians regarding congenital myasthenic syndromes (CMS) and their genetic causes and management. The following are the goals of this overview: Goal 1. Briefly describe the clinical characteristics of CMS. Goal 2. Review the subtypes and genetic causes of CMS. Goal 3. Review the differential diagnosis of CMS. Goal 4. Provide an evaluation strategy to identify the genetic cause of CMS in a proband. Goal 5. Inform genetic counseling of family members of a proband with CMS Goal 6. Review management of CMS following diagnosis: evaluations, treatment (based on genetic cause when possible) and surveillance. |
Lien associé : | Texte complet disponible en accès libre sur Bookshelf GeneReviews® |
Pubmed / DOI : | Pubmed : 20301347 |