EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, vol.14, no.4, pp.326-333, 2010 (SCI-Expanded)
Article / Article
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
Science Citation Index Expanded (SCI-EXPANDED), Scopus
Congenital myasthenic syndromes, Choline acetyltransferase, CHAT, Repetitive stimulation test, Acetylcholinesterase, Inhibitors, CHOLINE-ACETYLTRANSFERASE, EPISODIC APNEA, STRATEGIES
Hacettepe University Affiliated:
Background: Congenital myasthenic syndromes (CMSs) are a group of clinically and genetically heterogeneous inherited disorders of the neuromuscular junction. Mutations in the acetylcholine transferase (CHAT) gene cause a pre-synaptic CMS, typically associated with episodic apnoea and worsening of myasthenic symptoms during crises caused by infections, fever or stress. Between crises symptoms may be mild and variable. Acetylcholinesterase inhibitor therapy is reported to improve clinical symptoms and reduce crises.