• Anders Rönnblom and Anders Ekbom.
• Department of Medical Sciences, Uppsala University, Uppsala, Sweden.
• Ups. J. Med. Sci. 2024 Jan 1; 129.

BackgroundMyotonic dystrophy type 1 (DM1) is a monogenetic disease affecting many organs. Gastrointestinal symptoms are prevalent and of considerable consequences for affected individuals. The life expectancy is shortened and the objective of the study is to evaluate if gastrointestinal symptoms can predict the outcome of the disease.MethodFifty-one patients with DM1 were interviewed regarding symptoms from the gastrointestinal tract in the mid-1990s. Survival of all patients was evaluated in 2023 and the impact of symptoms on survival was assessed.ResultsAt the beginning of the study, the mean age was 35.9 years, (median 37.0, 9-63). At the end of the study 47 out of the 51 patients were deceased at a mean age of 53.7 years (median 55.7, 32.5-79.0). Patients with the congenital form of DM1 (n = 6) died at an age of 46.0 years (median 45.2, 40.0-53.6). There was no correlation between the gastrointestinal symptoms and survival.ConclusionAlbeit prevalent and of considerable clinical consequence, gastrointestinal symptoms are not correlated to survival in myotonic dystrophy type 1.© 2024 The Author(s). Published by Upsala Medical Society.

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