Universität zu Köln

Wunderlich, G., Abicht, A., Brunn, A., Daimagueler, H. -S., Schroeter, M., Fink, G. R., Lehmann, H. C. and Cirak, S. (2019). Congenitalmyasthenic syndromes in adulthood. Challenging, rare but treatable. Nervenarzt, 90 (2). S. 148 - 160. NEW YORK: SPRINGER. ISSN 1433-0407

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Abstract

The congenital myasthenic syndromes (CMS) represent aheterogeneous group of diseases with abroad spectrum of phenotypes. The common characteristic is an inherited genetic defect of the neuromuscular junction. Although in some patients the specific gene defect remains to be detected, the increasing identification of causative genes in recent years has already provided unique insights into the functionality of structural proteins at the neuromuscular junction. Neonatal and early childhood onset is observed in most CMS subtypes; however, late onset in adolescence or adulthood also occurs and establishing the diagnosis at these stages imposes particular challenges. To enable appropriate therapeutic interventions for an at least in principle treatable condition, determining the genetic cause is warranted. In this overview, the critical clinical and diagnostic features of the different CMS subtypes are presented and illustrated using typical cases. Furthermore, specific diagnostic clues are outlined. Finally, the overlap between CMS and muscular dystrophies is discussed. Illustrating characteristic patient examples, the essential clinical and additional diagnostic findings of various CMS subtypes and special diagnostic indications are presented.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Wunderlich, G. UNSPECIFIED UNSPECIFIED UNSPECIFIED Abicht, A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Brunn, A. UNSPECIFIED UNSPECIFIED UNSPECIFIED Daimagueler, H. -S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Schroeter, M. UNSPECIFIED UNSPECIFIED UNSPECIFIED Fink, G. R. UNSPECIFIED UNSPECIFIED UNSPECIFIED Lehmann, H. C. UNSPECIFIED UNSPECIFIED UNSPECIFIED Cirak, S. UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-157899
DOI:	10.1007/s00115-018-0562-9
Journal or Publication Title:	Nervenarzt
Volume:	90
Number:	2
Page Range:	S. 148 - 160
Date:	2019
Publisher:	SPRINGER
Place of Publication:	NEW YORK
ISSN:	1433-0407
Language:	German
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language MYASTHENIC SYNDROME; MUTATIONS; TRANSPORTER; MECHANISMS; FEATURES; THERAPY Multiple languages Clinical Neurology; Psychiatry Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/15789