Congenital myasthenic syndromes and myasthenia

Congenital myasthenic syndromes (CMS) are caused by mutations in genes coding for proteins involved in the maintenance of the neuromuscular junction (NMJ). The patients can be effectively treated and prognosis can be improved when the precise genetic cause is known. In addition, the frequency of the different CMS-causing genes varies with ethnic and geographic origin. There are only few reports from India describing the occurrence of DOK7, RAPSN and COLQ mutations based on selective or limited genetic testing, but the prevalence of various gene mutations in the Indian CMS population is unknown, hence, limiting the effective gene screening and thus, prognosis and access to treatments.

Source: Neuromuscular Disorders - September 6, 2018 Category: Neurology Authors: S. Balaraju, A. T öpf, P. Veeramani, S. Vengalil, K. Polavarapu, S. Nashi, J. Kirschner, R. Horvath, N. Atchayaram, H. Lochmüller Source Type: research