作者
Amina Chaouch, Juliane S Müller, Velina Guergueltcheva, Marina Dusl, Ulrike Schara, Vidosava Rakocević-Stojanović, Christopher Lindberg, Rosana H Scola, Lineu C Werneck, Jaume Colomer, Andres Nascimento, Juan J Vilchez, Nuria Muelas, Zohar Argov, Angela Abicht, Hanns Lochmüller
发表日期
2012/3
期刊
Journal of neurology
卷号
259
页码范围
474-481
出版商
Springer-Verlag
简介
Slow-channel congenital myasthenic syndrome (CMS) is a rare subtype of CMS caused by dominant “gain of function” mutations in the acetylcholine receptor. Clinically, the cervical and forearm extensor muscles seem to be preferentially weaker; and conventional treatment with anticholinesterases fails to improve symptoms. In contrast, open channel blockers such as fluoxetine and quinidine have been shown to be of benefit. The objectives of our study were to provide further insight into the clinical features of slow-channel CMS and evaluate response to recommended therapy. We carried out a retrospective clinical follow up study of 15 slow-channel CMS patients referred to the Munich CMS Centre. Detailed clinical data were collected by clinicians involved in the care of each patient, with a particular focus on response and tolerability to recommended therapy. Patients varied widely as regard onset of …
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