Mackenzie Jarvis, MPAM, PA-C, DMSc1, Jason Baker, PhD2, Elyse R. Thakur, PhD3, Dawn Vickers, RN1, Baharak Moshiree, MD, MSc4; 1CHS Digestive Health, Charlotte, NC; 2University of North Carolina, Charlotte, NC; 3CHS Digestive Health (Atrium Health) and Baylor College of Medicine, Charlotte, NC; 4Atrium Health, University of North Carolina, Charlotte, NC
Introduction: Myotonic Dystrophies (MD) are a complex group of progressive myopathic disorders with multiple gastrointestinal symptoms due to global muscle weakness, including upper esophageal motor dysfunction. Patients with MD often have difficulty initiating swallows leading to oropharyngeal dysphagia and are at risk of nasopharyngeal regurgitation, pulmonary aspiration, pneumonia and malnutrition1, 2. Oropharyngeal dysphagia has been recognized as a medical disability with increased patient morbidity, health care utilization and mortality 3. Bethanechol is a cholinesterase inhibitor, muscarinic agonist used to treat patients with ineffective esophageal motility (IEM) disorder by increasing peristaltic amplitude in the smooth muscle of the esophagus 3. Bethanechol has been shown to significantly improve esophageal bolus transit propulsion in patients with severe IEM 4.
Methods: Three male patients with MD, mean age 42, age range 29-54, presented with symptoms of progressive dysphagia, globus sensation, coughing and choking with decreased oral intake as a result. All patients had testing including a barium swallow, EGD and High Resolution Esophageal Manometry (HREM). (See Figure 1) A hypotensive upper esophageal sphincter (UES) was present in 2/3 MD patients (mean pressure 14 mmHg. In the esophageal body, an IEM pattern was present in 1/3 patients with absent contractility in 2/3 MD patients. Impaired bolus clearance was present in all MD patients. All three MD patients were treated with Bethanechol, 25 mg t.i.d, crushed for 3 months. At their follow-up clinic visits, each patient was asked about their symptoms of dysphagia, coughing, globus sensation and choking. All three MD patients had resolution of each of these symptoms. None of the patients had aspiration subsequent to treatment with bethanechol and their weight remained stable. Discussion: Diagnosing esophageal dysmotility disorders in MD prevents complications such as aspiration pneumonia and malnutrition. UES and esophageal body muscle weakness is the predominant dysmotility seen in MD patients on HREM leading to oropharyngeal dysphagia5. The ineffective peristalsis that results in prolonged bolus transit time and abnormal esophageal clearance in MD patients can improve with pro-cholinergic drugs such as bethanechol4.Our small case series found improvement in the oropharyngeal dysphagia, regurgitation and choking symptoms with use of bethanechol.
Disclosures: Mackenzie Jarvis: Allergan – Consultant, Speaker's Bureau. Salix Pharmaceuticals – Advisory Committee/Board Member, Consultant, Speaker's Bureau. The Gastroenterology & Hepatology Advanced Practice Providers (GHAPP) association – Advisory Committee/Board Member. Jason Baker indicated no relevant financial relationships. Elyse Thakur indicated no relevant financial relationships. Dawn Vickers indicated no relevant financial relationships. Baharak Moshiree indicated no relevant financial relationships.