CONGENITAL MYASTHENIC SYNDROMES: AN OVERVIEW OF THE CLINICAL PRESENTATION, DIAGNOSIS AND TREATMENT

Abstract

Congenital myasthenic syndromes (CMS) are a diverse group of rare inherited diseases caused by mutations
in various genes that encode proteins related to the function or structure of the neuromuscular
junction. This is a brief review of current knowledge concerning the pathophysiology, responsive genetic
defect, clinical and neurophysiological features, as well as symptomatic treatment strategies of CMS.