Congenital Myasthenic Syndromes

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Congenital myasthenic syndromes (CMSs) stem from defects in endplate-associated proteins that compromise the safety margin of neuromuscular transmission by one or more distinct mechanisms. The identified syndromes stem from defects of choline acetyltransferase, acetylcholinesterase, β2-laminin, acetylcholine receptor subunits, rapsyn, MuSK, agrin, Dok-7, Nav1.4, and plectin. Distinct clinical clues can point to the disease protein but sometimes electrophysiological, structural, and genetic studies are required for diagnosis. Different types of CMSs mandate different types of therapy.

Original languageEnglish (US)
Title of host publicationNeuromuscular Disorders
PublisherWiley-Blackwell
Pages142-149
Number of pages8
ISBN (Print)0470654562, 9780470654569
DOIs
StatePublished - Sep 6 2011

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Keywords

  • Choline acetyltransferase deficiency
  • Congenital myasthenic syndromes (CMSs)
  • Dok-7 myasthenia
  • Edrophonium test
  • Endplate AChE deficiency
  • Endplate AChR deficiency from receptor mutations
  • MuSK role in maturation and synapse
  • Prenatal CMS with fetal akinesia
  • Slow-channel CMSs and sodium-channel myasthenia
  • Slow-channel syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Clinical Neurology
  • Genetics(clinical)

Cite this

Engel, A. G. (2011). Congenital Myasthenic Syndromes. In Neuromuscular Disorders (pp. 142-149). Wiley-Blackwell. https://doi.org/10.1002/9781119973331.ch19