Related Experiment Video
Updated: Oct 7, 2026

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
Published on: July 29, 2016
[The megacolon in myotonic dystrophy: case report and review of the literature]
A Torretta1, D Mascagni, K P Zeri
1Cattedra di Chirurgia Generale, Università degli Studi di Roma, La Sapienza. altoretta@tiscalinet.it
Abstract:
Myotonic dystrophy (MD) is an autosomal dominant inherit disease, slowly progressive, involving multiple organ systems. Disorders at any level of the gastrointestinal tract are relatively common and manifest as disturbances in motility, such as impaired esophageal transport, delayed gastric emptying, and megacolon. A 51 years-old man was admitted to our surgical department with obstructive symptoms. Diagnostic evaluation showed megacolon and the typical clinical features of the MD, such as weakness, myotonia, frontal baldness and testicular atrophy. Risk of perforation and dehydration led to emergency total colectomy with ileorectal stapled anastomosis. The patient didn't suffer for compliance related to surgical treatment but, after 1 month in intensive care, died of pneumonia and myocardial infarct. The overall frequency of perioperative complications in patients with MD ranges from 8.2 to 42.9%. The risk of perioperative pulmonary complications is particularly high. Thus, we believe that the conservative treatment of motility disorders of the bowel in patients with MD is to be justified and that surgical treatment should be reserved, as last resort, performing a early diagnosis and careful monitoring during perioperative period.
Related Concept Videos
Myasthenia Gravis: Diagnostic Tests
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...
Alterations in Muscle Tone lll
Imaging Studies III: Gastrointestinal Motility Studies and Virtual Colonoscopy
Radionuclide Testing
Radionuclide testing is a sophisticated medical technique for assessing gastrointestinal motility. It focuses on gastric emptying and colonic transit time. Radioactive markers track the movement of food through the digestive system, providing insights into gastrointestinal disorders.
In gastric emptying studies, a meal's liquid and solid...
Gastrointestinal Motility Disorders
Satellite Stem Cells and Muscular Dystrophy
Myasthenia Gravis: Overview and Treatment
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which leads...

