Centro Nuclear Myopathy

18 participants from different countries convened for the 164^th ENMC International workshop on myotubular/centronuclear Myopathies, a group of inherited muscle disorders with a wide spectrum of severity and associated features. Although to date changes in a number of different genes have been identified to cause myotubular/centronuclear myopathy, there is a substantial proportion of patients with the condition where the underlying cause remains currently unknown. The first aim of this workshop was to delineate and further clarify the features associated with forms of the disorder where the underlying gene defect is already known, and to outline common features in forms of myotubular/centronuclear myopathy without known genetic defect in order to identify patients for further study. The clinical part of the workshop was complemented by sessions on the biochemical effects of specific genetic changes and on animals suffering from similar conditions; those may present suitable models to further understanding of myotubular/centronuclear myopathy and to study potential treatments. Another session focused on the design and establishment of databases collecting information from patients suffering from myotubular/centronuclear myopathy, a prerequisite for collecting patient populations for future therapy trials and a beneficial tool for distributing information about these rare conditions to those affected by them and their treating clinicians. During the final session of the workshop potential therapeutic approaches to myotubular/centronuclear myopathy based on findings in an animal model of the condition were presented and discussed. Recommendations for a structured approach to the genetic diagnosis of the condition and on the establishment of a patient registry for myotubular/centronuclear myopathy were made and strategies to implement those were discussed. Lastly, plans for further collaborations and meetings were drafted.

A full report is published in Neuromuscular Diseases (pdf)