Management and therapy of myotonic dystrophy (II)

Number 123
Date 6 February 2004

The ENMC hosted a group of experts on myotonic dystrophy. This was the second Workshop based on the results of the first (99th ENMC International Workshop) which led to the publication of the book: "Myotonic dystrophy, present management, future therapy " (2004). The main aim of the 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, United Kingdom and U.S.A.). Participants included geneticists, neurologists, occupational therapists, a clinical trial coordinator, and a patient representative. Agreement was reached on a core set of outcome measures in the outpatient clinical setting, to be developed as computerized facility. Quality of life aspects of myotonic dystrophy were presented. Symptomatic management was discussed for somnolence, gastrointestinal features, behavioural problems in childhood, and cardiac symptoms. Results from various centres demonstrated that most patients were not 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 and discussion board to facilitate communication, and to propose a systematic Cochrane review on muscle weakness, atrophy and symptomatic treatment in DM1.

An extended report of this meeting has been published in Neuromuscular Disorders. Please click here to access the full report.

Prof. Baziel van Engelen (The Netherlands)
Prof. Bruno Eymard (France)
Dr. Douglas Wilcox (United Kingdom)