195th ENMC International Workshop: Newborn screening for Duchenne muscular dystrophy 14–16th December, 2012, Naarden, The Netherlands

Abstract

The 195th ENMC International Workshop on newborn screening for Duchenne muscular dystrophy (DMD) was held in Naarden, The Netherlands, on 14–16th December 2012. Twenty-one participants from seven countries (UK, The Netherlands, Germany, Italy, Canada, USA, and Australia), with expertise in neuropediatrics, neurology, genetics, biochemistry, pathology, psychology, ethics, sociology and parent representatives were present. DMD NBS was last discussed at an ENMC workshop in 1992 [1], where it was concluded that the justification to screen for DMD ‘is to provide optimal and specific information to the parents in time, so they can make the decisions which are the most appropriate for their family’. This point was reviewed in the current workshop. DMD is a progressive muscle wasting disorder, leading to wheelchair confinement in the mid-teens, and development of an associated cardiomyopathy. Death is mainly from respiratory failure [2] although with the implementation of optimal respiratory care, mean age at survival is now well into the late 20s [3–7]. A milder form of the condition, Becker uscular dystrophy (BMD) is also recognised. DMD is an X-linked condition, arising from out-of-frame or frame shift mutations in the DMD gene, encoding for the cytoskeletal protein dystrophin. Two unusual features of this disease are: (i) the large size of the DMD gene and thus susceptibility to de novo mutations; (ii) the absence of specific clinical symptoms sufficient to alert medical professionals to the presence of the disease in neonates. The most commonly recognised