Lu sur :https://www.ncbi.nlm.nih.gov/pubmed/29974128
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Congenital myasthenic syndromes in adulthood : Challenging, rare but treatable.
Nervenarzt. 2018 Jul 4. doi: 10.1007/s00115-018-0562-9.
Wunderlich G1,2, Abicht A3,4, Brunn A5,6, Daimagüler HS7,8, Schroeter M9, Fink GR9,10, Lehmann HC9,8,6, Cirak S7,8,6.
[Article in German]
Abstract
The congenital myasthenic syndromes (CMS) represent a heterogeneous group of diseases with a broad 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.
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L’article étant en Allemand, pour les membres donateurs germanophones intéressés, l'association peut faire l'acquisition d'un tiré-à-part... Merci d'en faire la demande dans le forum viewforum.php?f=9
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