Long-term follow-up in patients with congenital myasthenic syndrome due to CHAT mutations

Schara U., Christen H., Durmus H., Hietala M., Krabetz K., Rodolico C., ...More

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, vol.14, no.4, pp.326-333, 2010 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 14 Issue: 4
  • Publication Date: 2010
  • Doi Number: 10.1016/j.ejpn.2009.09.009
  • Journal Name: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.326-333
  • Keywords: Congenital myasthenic syndromes, Choline acetyltransferase, CHAT, Repetitive stimulation test, Acetylcholinesterase, Inhibitors, CHOLINE-ACETYLTRANSFERASE, EPISODIC APNEA, STRATEGIES
  • Hacettepe University Affiliated: Yes

Abstract

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.