Titre : | Congenital Myasthenic Syndromes Overview : Synonym: Congenital Myasthenia |
Revue : | GeneReviews® [Internet] |
Auteurs : | Abicht A ; Müller J ; Lochmuller H |
Type de document : | Article |
Année de publication : | 23/12/2021 |
Langues: | Anglais |
Mots-clés : | article de type review ; classification des maladies ; conseil génétique ; corrélation génotype-phénotype ; description de la maladie ; diagnostic ; diagnostic différentiel ; diagnostic génétique ; épidémiologie ; étiologie ; grossesse ; maladie de la jonction neuromusculaire ; pharmacothérapie ; prévention des complications ; prise en charge pluridisciplinaire ; prise en charge thérapeutique ; suivi médical ; syndrome myasthénique congénital |
Résumé : |
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 |