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Neuromuscular Junction Defects

Neuromuscular Junction Working Group – Myasthenia Gravis (MG) and Congenital Myasthenic Syndromes (CMS)

Existing guidelines have been collected for MG (Europe, US, UK, Germany, Italy, France) and a gap analysis was carried out. There are few if any guidelines for paediatric MG and for CMS. In addition, the need to provide guidelines and standardization for antibody testing in MG was highlighted and will be addressed separately. An ENMC workshop for guidelines in paediatric CMS will be convened in early 2019. Further topics of interest to the group are standardization of serological diagnosis in MG, gene discovery and diagnosis in CMS, data sharing, electrophysiology and imaging. Patients with CMS/MG should get access to clinical research including registries, biobanks, natural history studies and clinical trials.