288th ENMC International Workshop. Towards better diagnosing, understanding and treating gastrointestinal symptoms in myotonic dystrophy: extended insights and practical recommendations. 16-18 May 2025, Hoofddorp, the Netherlands

The 288th ENMC workshop (16–18 May 2025) brought together a group of 26 healthcare professionals, researchers, and patient representatives to advance understanding and clinical management of gastrointestinal (GI) manifestations in individuals with myotonic dystrophy (DM). GI symptoms are common in DM but are not systematically addressed in clinical care and are frequently left untreated or treated incorrectly. This workshop highlighted the breadth and impact of GI manifestations in DM, addressing symptoms in the oropharynx, oesophagus, liver, gallbladder, stomach, small and large intestines, and pelvic floor muscles. Attention was given to nutritional, cognitive, and behavioural influences on these symptoms and differences across males and females. Developments in genetic and animal studies that contribute to an increased understanding of the pathophysiology and potential treatment of GI manifestations were discussed, and recommendations are provided for their use. Building on these discussions, this report extends and substantiates the workshop content by incorporating additional literature and expert interpretation. Practical clinical recommendations to optimise the care and treatment of GI symptoms in DM were provided and, together with patient representatives, a list of 10 questions has been developed that can be used in the consultation room to identify whether a patient is experiencing GI symptoms. Next steps include the development of a DM-specific assessment instrument for GI symptoms and the selection of outcome measures to monitor changes in symptoms over time, during treatment, or in clinical trials.