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, Lora JH Bean, Karen W Gripp, 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.

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.

Sections

Publication types

Review