Congenital myasthenic syndromes and myasthenia

Neuromuscular disorders (NMDs) contain a broad group of disorders with overlapping symptoms and is therefore difficult to differentiate clinically. A subgroup is a plethora of rare and different congenital myasthenic syndromes (CMS) with different inheritance patterns, severity and possible treatments. Since May 2017, we have offered an expanded gene panel based on Next-generation Sequencing (NGS) to patients with NMDs, including CMS. We performed a NGS-analysis with a gene list of 328 genes on almost 150 patients where standard ``gene by gene testing'' had not yielded a diagnosis.

Source: Neuromuscular Disorders - September 6, 2018 Category: Neurology Authors: C. Jonsrud, P. Aden, G. Hansen, M. Mork, B. Nyg ård, T. Popperud, M. Rasmussen, N. Songstad, K. Ørstavik, T. Fagerheim Source Type: research