title: Gastrointestinal manifestations in myotonic muscular dystrophy.
abstract: Myotonic dystrophy (MD) is characterized by myotonic phenomena and progressive muscular weakness. Involvement of the gastrointestinal tract is frequent and may occur at any level. The clinical manifestations have previously been attributed to motility disorders caused by smooth muscle damage, but histologic evidence of alterations has been scarce and conflicting. A neural factor has also been hypothesized. In the upper digestive tract, dysphagia, heartburn, regurgitation and dyspepsia are the most common complaints, while in the lower tract, abdominal pain, bloating and changes in bowel habits are often reported. Digestive symptoms may be the first sign of dystrophic disease and may precede the musculo-skeletal features. The impairment of gastrointestinal function may be sometimes so gradual that the patients adapt to it with little awareness of symptoms. In such cases routine endoscopic and ultrasonographic evaluations are not sufficient and targeted techniques (electrogastrography, manometry, electromyography, functional ultrasonography, scintigraphy, etc.) are needed. There is a low correlation between the degree of skeletal muscle involvement and the presence and severity of gastrointestinal disturbances whereas a positive correlation with the duration of the skeletal muscle disease has been reported. The drugs recommended for treating the gastrointestinal complaints such as prokinetic, anti-dyspeptic drugs and laxatives, are mainly aimed at correcting the motility disorders. Gastrointestinal involvement in MD remains a complex and intriguing condition since many important problems are still unsolved. Further studies concentrating on genetic aspects, early diagnostic techniques and the development of new therapeutic strategies are needed to improve our management of the gastrointestinal manifestations of MD.
authors.affiliation: Gastroenterology Unit, Department of Internal Medicine, University of Pisa, Via Roma 67, 56100 Pisa, Italy. mbellini@med.unipi.it
authors.forename: Massimo
authors.initials: M
authors.lastname: Bellini
authors.forename: Sonia
authors.initials: S
authors.lastname: Biagi
authors.forename: Cristina
authors.initials: C
authors.lastname: Stasi
authors.forename: Francesco
authors.initials: F
authors.lastname: Costa
authors.forename: Maria Gloria
authors.initials: MG
authors.lastname: Mumolo
authors.forename: Angelo
authors.initials: A
authors.lastname: Ricchiuti
authors.forename: Santino
authors.initials: S
authors.lastname: Marchi
mesh_terms: D005767:Gastrointestinal Diseases / Q000209:etiology*; D041981:Gastrointestinal Tract / Q000503:physiopathology*; D006801:Humans; D009223:Myotonic Dystrophy / Q000503:physiopathology*