Best practice guidelines on genetic diagnostics of Facioscapulohumeral muscular dystrophy: Workshop 9th June 2010, LUMC, Leiden, The Netherlands

During the 171st European Neuromuscular Centre international workshop Standards of care and management of facioscapulohumeral muscular dystrophy (FSHD) in January 2010 [1], it was concluded that there was a need for further discussion to better define the “gold standard” for diagnostic procedures for FSHD. With the increasing complexity of the genetics of FSHD, it is important to reach an international consensus on the molecular testing methods. To this end, a meeting was held with 39 scientists from around the world at the Leiden University Medical Center on June 9, 2010 to establish consensus Best Practice Guidelines on Genetic Diagnosis of FSHD.