First International 'Institute of Myology Workshop' on Facioscapulohumeral Muscular Dystrophy, Paris, May 22, 2007.

摘要

This one-day workshop was organized by Thomas Voit and assembled 13 researchers from five countries (Belgium, The Netherlands, France, Italy, USA) in order to create a collaborative interface between several international groups who are actively investigating the molecular background of facioscapulohumeral muscular dystrophy (FSHD) as well as to give an update on therapeutic projects on FSHD at the preclinical and clinical level.Such a collective effort seemed particularly timely because there is still no unifying and generally accepted patho-physiological concept that could explain the muscle degeneration in FSHD or the less frequently associated symptoms of cochlear hearing loss, Coats's syndrome or, in rare infantile cases, mental retardation. Furthermore, opinions diverge as to which genes are possibly directly or indirectly implicated, and no animal model exists that resumes all the particular aspects of FSHD.