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Lookup NU author(s): Dr Paulo Lorenzoni, Professor Rita HorvathORCiD, Professor Hanns Lochmuller
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© 2018, Springer Science+Business Media, LLC, part of Springer Nature. Congenital myasthenic syndromes (CMS) are heterogeneous genetic diseases in which neuromuscular transmission is compromised. CMS resembling the Lambert–Eaton myasthenic syndrome (CMS–LEMS) are emerging as a rare group of distinct presynaptic CMS that share the same electrophysiological features. They have low compound muscular action potential amplitude that increment after brief exercise (facilitation) or high-frequency repetitive nerve stimulation. Although clinical signs similar to LEMS can be present, the main hallmark is the electrophysiological findings, which are identical to autoimmune LEMS. CMS–LEMS occurs due to deficits in acetylcholine vesicle release caused by dysfunction of different components in its pathway. To date, the genes that have been associated with CMS–LEMS are AGRN, SYT2, MUNC13-1, VAMP1, and LAMA5. Clinicians should keep in mind these newest subtypes of CMS–LEMS to achieve the correct diagnosis and therapy. We believe that CMS–LEMS must be included as an important diagnostic clue to genetic investigation in the diagnostic algorithms to CMS. We briefly review the main features of CMS–LEMS.
Author(s): Lorenzoni PJ, Scola RH, Kay CSK, Werneck LC, Horvath R, Lochmuller H
Publication type: Review
Publication status: Published
Journal: NeuroMolecular Medicine
Year: 2018
Volume: 20
Issue: 2
Pages: 205-214
Print publication date: 01/06/2018
Online publication date: 25/04/2018
Acceptance date: 16/04/2018
ISSN (print): 1535-1084
ISSN (electronic): 1559-1174
Publisher: Humana Press Inc.
URL: https://doi.org/10.1007/s12017-018-8490-1
DOI: 10.1007/s12017-018-8490-1
