123rd ENMC International Workshop: Management and Therapy in Myotonic Dystrophy, 6–8 February 2004, Naarden, The Netherlands

Abstract

This was the second Workshop on the management of myotonic dystrophy (DM1). The first (99th ENMC International Workshop) led to the publication of the book: Myotonic dystrophy, present management, future therapy [1]. The main aim of the present Workshop was to discuss outcome measures, and symptomatic treatment in myotonic dystrophy to enable international collaboration on management and treatment. The Workshop was attended by 22 participants form 11 countries (Belgium, Canada, Finland, France, Italy, Japan, the Netherlands, Russia, Sweden, UK and USA). Participants included geneticists, neurologists, occupational therapists, a clinical trial coordinator, and a patient representative. Agreement was reached on a core set of outcome measures to be gathered in outpatient clinics, to be developed as a computerised database. Quality of life aspects of myotonic dystrophy were presented. Symptomatic management was discussed for somnolence, gastrointestinal features, cardiac symptoms, and behavioural problems in childhood. Results from various centres demonstrated that most patients were frequently not being seen once a year. A study showed a patient-held care card improved their care. Encouraging results from Japanese and American pharmacological trials were presented. The Workshop decided to create a website (www.myotonic.org) and discussion board to facilitate communication, and to propose a systematic Cochrane review on muscle wasting and weakness in DM1.