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.

The Use of Pyridostigmine in a Child With Chronic Intestinal Pseudo-Obstruction

“…Researchers highlight that up to 40% of children and young adults can experience GI symptoms, which include pain, bloating, altered bowel habit, and constipation. 9 Furthermore, Rönnblom et al 10 conducted a study in 2002 to monitor gastric emptying in 10 patients with MD; in this study, they suggested that MD is associated with reduced gastric motility. However, because of a lack of high-quality studies, it is still up for debate whether MD causes CIPO via damage to the enteric nervous system, smooth muscle, or secondary endocrine changes.…”

Rehabilitation in Muscular Dystrophies: Changing Approach

“…The percutaneous gastrostomy is quite regular, although there are also complications described during (re)placement. In myotonic dystrophy impairment of gastrointestinal motility is known and seems to be gradual worsening (Bellini et al 2006), probably related to gastrointestinal symptoms like regurgitation, dyspepsia, abodominal pain, bloating, and changes in bowl habits. Although there is only a low correlation between the degree of skeletal muscle involvement and the presence and severity of gastrointestinal disturbances it is a positive correlation (Bellini et al 2006).…”

“…In myotonic dystrophy impairment of gastrointestinal motility is known and seems to be gradual worsening (Bellini et al 2006), probably related to gastrointestinal symptoms like regurgitation, dyspepsia, abodominal pain, bloating, and changes in bowl habits. Although there is only a low correlation between the degree of skeletal muscle involvement and the presence and severity of gastrointestinal disturbances it is a positive correlation (Bellini et al 2006). Also in boys with Duchenne and Becker muscular dystrophy abnormalities in gastric motility are seen and the possibility of progressive failure in neuromuscular function is put forward (Borelli et al 2005).…”

“…Also in boys with Duchenne and Becker muscular dystrophy abnormalities in gastric motility are seen and the possibility of progressive failure in neuromuscular function is put forward (Borelli et al 2005). Promotility agents are advised as are good diet, stool softeners, and hydration (Bellini et al 2006, Wagner et al 2007. There is little evidence on the benefits of exercise and chronic constipation (Leung et al 2011), but practical experience often reported is that doing exercise or standing in a standing table or frame does seem to help.…”

Myotonic dystrophy type 1 and pseudo-obstruction in a child with smooth muscle α-actin deficiency and eosinophilic myenteric plexitis

“…The gastrointestinal tract is often involved in patients with MD, and digestive symptoms may be the first sign of dystrophic disease and may precede the musculo-skeletal features (2).…”