171st ENMC international workshop: Standards of care and management of facioscapulohumeral muscular dystrophy.

An ENMC workshop on standards of care and management of facioscapulohumeral muscular dystrophy (FSHD) patients was held on January 15–17, 2010 in Naarden, The Netherlands. Twenty-four participants from eight countries participated. The primary objective was to develop standards of care in the diagnosis and management of patients with FSHD. Recommendations were formulated based on evidence, when available, or on the consensus of expert opinion. The workshop also identified areas where further studies are needed. Additionally, given the recent progress in understanding the underlying pathophysiology of FSHD, the workshop also examined issues of trial readiness in FSHD including the availability of appropriate outcome measures and access to patients through registries.