title: Congenital myasthenic syndromes: Clinical and molecular report on 7 Sicilian patients.
abstract: BACKGROUND
  Congenital myasthenic syndromes (CMS) are a heterogeneous group of diseases involving neuromuscular transmission. The classification of these syndromes is based on the localization of the defect (pre-synaptic, post-synaptic, and neuromuscular junction) and on the molecular analysis.
  
  
  OBJECTIVE
  To report on a series of 7 patients affected by post-synaptic CMS.
  
  
  METHODS
  We examined sex, familiarity, age of onset, clinical symptoms, and response to tensilon test, patellar and pupillary reflexes, presence of cranial nerve involvement, Gowers' sign, presence of ptosis, grade of muscular weakness, and response to the treatment and gene deletions.
  
  
  RESULTS
  Ptosis, muscular hypotonia, and light variability in muscular weakness were the main clinical signs. Cholinergic receptor, nicotinic, epsilon (CHRNE) gene mutations were mainly reported.
  
  
  CONCLUSIONS
  The study points out that the clinical and molecular pattern reported in our patients do not differentiate from the data reported in the literature. Treatment with pyridostigmine and modulation of the therapy allows a good quality of life.
authors.affiliation: Department of Pediatric and Pediatric Neurology, Azienda Ospedaliera Universitaria OVE-Policlinico, University of Catania, Catania, Italy.
authors.forename: Piero
authors.initials: P
authors.lastname: Pavone
authors.forename: Agata
authors.initials: A
authors.lastname: Polizzi
authors.forename: Maria Roberta
authors.initials: MR
authors.lastname: Longo
authors.forename: Katia
authors.initials: K
authors.lastname: Romano
authors.forename: Michele
authors.initials: M
authors.lastname: Vecchio
authors.forename: Andrea D
authors.initials: AD
authors.lastname: Praticò
authors.forename: Raffaele
authors.initials: R
authors.lastname: Falsaperla
keywords: Cholinergic receptor; epsilon gene; hypotonic syndromes; myasthenic syndromes; neuromuscular diseases; nicotinic; receptor-associated protein of the synapse gene