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Neuropediatrics 2017; 48(04): 294-308
DOI: 10.1055/s-0037-1602832
Review Article
Georg Thieme Verlag KG Stuttgart · New York

The Increasing Genetic and Phenotypical Diversity of Congenital Myasthenic Syndromes

Grace McMacken
1   The John Walton Muscular Dystrophy Centre, Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne, United Kingdom
,
Angela Abicht
2   Medizinisch-Genetisches Zentrum, Munich, Germany
,
Teresinha Evangelista
1   The John Walton Muscular Dystrophy Centre, Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne, United Kingdom
,
Sally Spendiff
1   The John Walton Muscular Dystrophy Centre, Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne, United Kingdom
,
Hanns Lochmüller
1   The John Walton Muscular Dystrophy Centre, Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne, United Kingdom
› Author Affiliations
Further Information

Publication History

21 February 2017

23 March 2017

Publication Date:
15 May 2017 (online)

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Abstract

The congenital myasthenic syndromes (CMS) are a diverse group of diseases, which result in an increasing range of phenotypes, but which are all due to inherited defects at the neuromuscular junction (NMJ). Although some patients remain genetically undiagnosed, our ability to identify the causative genes has shed new light on the role of previous uncharacterized proteins at the NMJ. Securing the genetic diagnosis can be challenging, but it is of critical importance to allow rational therapeutic intervention. In this review, we summarize the key clinical and pathologic features of the CMS subtypes, outline diagnostic clues, and challenges, and describe the recent advances that have highlighted the overlap between CMS and the muscular dystrophies and peripheral neuropathies.

Keywords

congenital myasthenic syndromes - neuromuscular junction - genetic diagnosis - neurophysiology
 

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