Congenital Myasthenic Syndromes Overview

Excerpt

The purpose of this overview is to:

1. 1

   Briefly describe the clinical characteristics of CMS;

2. 2

   Review the subtypes and genetic causes of CMS;

3. 3

   Review the differential diagnosis of CMS;

4. 4

   Provide an evaluation strategy to identify the genetic cause of CMS in a proband;

5. 5

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

6. 6

   Inform genetic counseling of family members of a proband with CMS.