Congenital Myasthenic Syndromes

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Congenital Myasthenic Syndromes

The ENMC hosted a group of experts on Congenital Myasthenic Syndromes (CMS). CMS are inherited disorders in which the safety margin of the neuromuscular transmission is compromised by one or more specific mechanisms. CMS are caused by various genetic defects of neuromuscular junction proteins. Since the last ENMC workshop on CMS in 2004 (126th workshop), additional CMS genes have been identified, of which AGRNDOK7 and GFPT1 were the focus of discussion at the 186rd workshop. As a consequence, the total number of patients with CMS and the diversity of clinical phenotypes have further increased. The workshop discussed the underlying pathophysiology, animal models, current and future approaches to diagnosis, management and therapies of CMS. Furthermore, the group identified gaps in current knowledge and made plans for future collaborative efforts. The workshop was attended by 22 participants from 7 countries (Bulgaria, France, Germany, Spain, Switzerland, United Kingdom, U.S.A.). Participants included scientists, clinicians and a patient representative. CMS patients are often responsive to treatment with different medication, but early and correct diagnosis remains challenging. The awareness and understanding for CMS among health care professionals and the lay public requires further attention.

A full report is published in Neuromuscular Disorders (pdf)

Prof. David Beeson (UK)
Prof. Daniel Hantaï (France)
Prof. Hanns Lochmüller (UK)