[Congenital myasthenic syndromes in adulthood : Challenging, rare but treatable]. / Kongenitale myasthene Syndrome im Erwachsenenalter : Diagnostisch herausfordernd, selten, aber behandelbar.
Nervenarzt
; 90(2): 148-159, 2019 Feb.
Article
in De
| MEDLINE
| ID: mdl-29974128
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Neurotransmitter Agents
/
Myasthenic Syndromes, Congenital
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Adult
/
Humans
Language:
De
Journal:
Nervenarzt
Year:
2019
Document type:
Article