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., ...Daha Fazla

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, cilt.14, ss.326-333, 2010 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 14 Konu: 4
  • Basım Tarihi: 2010
  • Doi Numarası: 10.1016/j.ejpn.2009.09.009
  • Dergi Adı: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
  • Sayfa Sayıları: ss.326-333

Özet

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.