title: Gastrointestinal involvement is frequent in Myotonic Dystrophy type 2.
abstract: The phenotype of DM2 shows similarities as well as differences to that of Myotonic Dystrophy type 1 (DM1). Gastrointestinal dysfunction is common in DM1 and 25% of the patients consider this to be the most disabling consequence of the disease. Little is known about gastrointestinal involvement in Myotonic Dystrophy type 2 (DM2). The aim of the study was to explore the occurrence and characteristics of gastrointestinal symptoms in patients with DM2. This was compared to symptoms in adult-onset DM1 patients, and to age- and sex-matched healthy controls. Twenty-nine genetically proven DM2 patients filled out two standardized questionnaires about gastrointestinal symptoms; most important outcome measures were answers to questions about dysphagia, abdominal pain, and constipation. The results were compared to those of 29 adult-onset DM1 patients, and to 87 age- and sex-matched healthy controls. Radiological measurement of colon transit time was investigated in 18 DM2 patients. Dysphagia for liquids (38%) and solid food (41%), abdominal pain (62%), and constipation (62%) were all significantly more common among DM2 patients than among healthy controls, and comparable to their occurrence in DM1. Colon transit time was increased in 24% of the DM2 patients. Our results show that gastrointestinal symptoms are highly prevalent in DM2 patients. Gastrointestinal dysfunction may be attributed to any part of the gastrointestinal tract. The results provide new insight into the clinical picture of DM2.
authors.affiliation: Neuromuscular Center Nijmegen, Department of Neurology, Radboud University Nijmegen Medical Center, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands. a.tieleman@neuro.umcn.nl
authors.forename: Alide A
authors.initials: AA
authors.lastname: Tieleman
authors.forename: Judith
authors.initials: J
authors.lastname: van Vliet
authors.forename: Jan B M J
authors.initials: JB
authors.lastname: Jansen
authors.forename: Anneke J
authors.initials: AJ
authors.lastname: van der Kooi
authors.forename: George F
authors.initials: GF
authors.lastname: Borm
authors.forename: Baziel G M
authors.initials: BG
authors.lastname: van Engelen
mesh_terms: D015746:Abdominal Pain / Q000453:epidemiology / Q000209:etiology; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D003248:Constipation / Q000453:epidemiology / Q000209:etiology; D003672:Defecation; D003680:Deglutition Disorders / Q000453:epidemiology / Q000209:etiology; D005260:Female; D005767:Gastrointestinal Diseases / Q000453:epidemiology / Q000209:etiology*; D005772:Gastrointestinal Transit / Q000235:genetics / Q000502:physiology; D006306:Health Surveys; D006801:Humans; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000145:classification / Q000150:complications* / Q000453:epidemiology; D009426:Netherlands / Q000453:epidemiology; D012306:Risk; D011795:Surveys and Questionnaires