title: [Neuromuscular signal transmission in adulthood. Current facets of acquired and hereditary disorders].
abstract: The availability of early diagnosis and modern effective therapies has reduced mortality and disability linked to late-onset acquired or hereditary neuromuscular transmission disorders. Nevertheless, identification of the pathogenesis of these diseases remains a challenge. In addition to non-specific and fluctuating presenting symptoms current diagnostic work-up strategies include electrophysiology, antibody measurements and less frequently molecular genetics. For differential diagnostic purposes there is an increasing demand for improving awareness concerning late-onset congenital myasthenic syndromes (CMS) which are rare but nevertheless symptomatically treatable diseases. Especially in seronegative myasthenic syndromes, molecular genetic analyses of CMS genes should be integrated into the differential diagnostic work-up. Therefore, some facets of neuromuscular synaptogenesis in the context of seronegative acquired myasthenic syndromes and recently uncovered congenital myasthenic syndromes are reviewed.
authors.affiliation: Medizinisch Genetisches Zentrum München, München.
authors.forename: A
authors.initials: A
authors.lastname: Abicht
authors.forename: S
authors.initials: S
authors.lastname: Kröger
authors.forename: B
authors.initials: B
authors.lastname: Schoser
mesh_terms: D000328:Adult; D001921:Brain / Q000503:physiopathology*; D006801:Humans; D008959:Models, Neurological; D009157:Myasthenia Gravis / Q000175:diagnosis* / Q000628:therapy*; D009469:Neuromuscular Junction / Q000503:physiopathology*; D013116:Spinal Cord / Q000503:physiopathology*; D009435:Synaptic Transmission