Disorders Affecting the Neuromuscular Junction —Review—

Abstract

Disorders affecting the neuromuscular junction (NMJ) consist of AChR­, MuSK­, double negative­ myasthenia gravis (MG), Lambert­Eaton syndrome (LEMS), Isaacs’ syndrome and Schwartz­Jampel syndrome and congenital myasthenic syndromes (CMS). Discussed were both clinical, therapeutic, pathological aspects and autoantibodies against nAChR, Musk and clustering AChR in myasthenia gravis of the most popular NMJ disease, autoantibodies aginst VGCC and Sox1 in LEMS associated with the small cell cancer (SCLEMS), antibodies against VGKC and the other new antigen in Isaacs’ syndrome, perlecan in Schwartz Jampel syndrome, and clinical and genetic features of CMS.