Clinical, Electro diagnostic and Genetic assay of 39 patients with Congenital Myasthenic Syndrome

Congenital Myasthenic Syndromes (CMS) are a heterogeneous group of genetic neuromuscular disorders characterized by impaired neuromuscular transmission. This heterogeneity has made definitive diagnosis very difficult. In spite of great advances in classification and diagnosis of CMS in the world, there are many difficulties in ascertaining diagnosis and classification. These disorders are often misdiagnosed as myasthenia gravis, congenital muscular dystrophy and congenital myopathy and this may result in mismanagement and iatrogenic complications. We gathered information of 39 patients who were clinically and electrodiagnostically compatible with CMS. For 23 of these patients, DNA samples were sent for genetic analysis. So far we have received 9 genetic results from which 8 had positive results. 5 of them were postsynaptic due to Mutation of CHRNE, and 3 of them were synaptic due to mutation of COLQ.