Visceral Changes in Myotonic Dystrophy

Gastric emptying in myotonic dystrophy

“…Since MD is a systemic disease, not only a disorder affecting skeletal muscles, there could be multiple reasons for the slow gastric emptying. An early report [8] found that the morphology of the gastric smooth muscle was only rarely affected in MD, however, gastric myocyte function has never been studied. It has been proposed that abnormal electrical control of duodenal activity could contribute to the chronic intestinal pseudo‐obstruction occasionally seen in MD [9], and likewise a malfunctioning electrical control of gastric activity may be the cause of slow gastric emptying.…”

Clinical and Molecular Insights into Gastrointestinal Dysfunction in Myotonic Dystrophy Types 1 & 2

“…Changes in esophageal function can be evaluated by barium swallow tests, which, as barium is radio-opaque and can be seen on x-ray, visualizes esophageal movement during swallowing. DM-affected individuals often retain barium-containing liquid or solid meals in the oropharyngeal recesses, upper esophagus, and lower esophagus during barium swallow tests, with a tendency for significant delays in esophageal emptying time regardless of meal type [ 45 , 46 , 47 , 48 ]. In some cases, luminal contents have been observed flowing back into the pharynx after passing through the upper esophageal sphincter, fluid has run from the nose of affected individuals after swallowing, or swallowing required tilting the head backwards [ 45 , 46 , 49 , 50 , 51 ].…”

“…DM-affected individuals often retain barium-containing liquid or solid meals in the oropharyngeal recesses, upper esophagus, and lower esophagus during barium swallow tests, with a tendency for significant delays in esophageal emptying time regardless of meal type [ 45 , 46 , 47 , 48 ]. In some cases, luminal contents have been observed flowing back into the pharynx after passing through the upper esophageal sphincter, fluid has run from the nose of affected individuals after swallowing, or swallowing required tilting the head backwards [ 45 , 46 , 49 , 50 , 51 ]. As barium swallow tests also provide radiographic evidence of reduced muscle contractions, barium was observed to passively “trickle” down the back of the tongue through the pharynx, the nasal passages did not close off and a considerable amount of barium remained in the recesses of the pharynx of a DM affected subject after swallowing [ 51 ].…”

“…In addition to barium swallows, other aspects of esophageal function can be measured by esophageal manometry, in which a probe is inserted into the esophagus to record changes in esophageal pressure at rest or during swallows. Clinical studies have consistently demonstrated that intraluminal pharyngoesophageal pressure of DM-affected individuals is reduced during swallowing compared to controls across studies [ 43 , 46 , 48 , 49 , 58 , 59 ]. Peristaltic contractions were often recorded as weak or absent in the pharynx and both upper and lower esophageal regions of DM-affected subjects; if contractions were present, the normal peristaltic contraction sequence was maintained similarly to controls [ 43 , 45 , 46 , 49 , 58 , 60 , 61 , 62 ].…”

Intestinal Absorption in Myotonic Dystrophy

“…Kuhn 1966, Church 1967 as well as in smooth muscles of the intestines and in the urinary bladder (Pruzanski & Huvos 1967, Schuman et al 1965. Kuhn 1966, Church 1967 as well as in smooth muscles of the intestines and in the urinary bladder (Pruzanski & Huvos 1967, Schuman et al 1965.…”