[SMC] Congenital Myasthenic Syndromes Overview

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2003 May 9 [updated 2021 Dec 23]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022.

ABSTRACT

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.

PMID:20301347 | Bookshelf:NBK1168


Source: https://pubmed.ncbi.nlm.nih.gov/2030134 ... 0&v=2.17.5