Congenital myasthenic syndromes: Clinical and molecular report on 7 Sicilian patients

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. AIM: To report on a series of 7 patients affected by post-synaptic CMS. PATIENTS AND 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.