Congenital Myasthenic Syndromes Overview

Angela Abicht; Juliane S Müller; Hanns Lochmüller

Congenital Myasthenic Syndromes Overview

Review

In: GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.

2003 May 9 [updated 2021 Dec 23].

Authors

Angela Abicht¹, Juliane S Müller², Hanns Lochmüller³

Book Editors

Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya

Affiliations

¹ Medical Genetics Center (MGZ);, Department of Neurology, Friedrich-Baur Institute, Munich, Germany
² Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom
³ Children's Hospital of Eastern Ontario Research Institute;, Division of Neurology, Department of Medicine, The Ottawa Hospital;, Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada

PMID: 20301347
Bookshelf ID: NBK1168

Excerpt

The purpose of this overview is to increase the awareness of clinicians regarding congenital myasthenic syndromes (CMS) and their genetic causes and management.

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: Review management of CMS following diagnosis: evaluations, treatment (based on genetic cause when possible) and surveillance.

Goal 6: Inform genetic counseling of family members of a proband with CMS

Sections

Publication types

Review