Mackenzie Jarvis, PA-C, DMSc1, Eric Thompson, MD2, Baha Moshiree, MD, MSc3
1Atrium Health, Charlotte, NC; 2Carolina Digestive Health Associates, Charlotte, NC; 3University of North Carolina, Charlotte, NC
Introduction: Oropharyngeal dysphagia with severe upper esophageal sphincter (UES) dysfunction may be seen due to neuromuscular, neurodegenerative and structural diseases. However, the diagnosis of Myotonic Dystrophy based on interpretation of High Resolution Esophageal Manometry (HRM) is rare.
Case Description/Methods: A 28-year-old Caucasian man presented with a history of dysphagia since childhood with choking and gasping during sleep. During meals he regurgitated frequently and drank large amounts of water to swallow food. He had dysphagia to both solids and liquids. Patient also noted coughs after most meals. He noted a weight loss of 25 pounds with a normal appetite. Patient wanted to eat but was worried about choking. No prior history of food allergies, asthma or food intolerances. No seasonal allergies. Past medical history notable for a normal upper endoscopy. On physical examination the patient was noted to have an elongated face with drooping of his eyelids bilaterally. He had thinning of his temporal area, jaw and anterior neck musculature and thenar wasting bilaterally. Weakness of both extremities was noted with normal reflexes. Review of prior testing was done. A Modified Barium Swallow study showed no evidence of aspiration or penetration and decreased hyolaryngeal excursion with impaired epiglottic inversion with decreased duration of the cricopharyngeal. Given the conflicting findings above, a HRM was performed in our motility lab. (See Figures 1 and 2). Solid swallows were unable to be performed due to the severe extent of the patient’s dysphagia and risk of aspiration. Based on our manometry results, we performed the following testing to rule out neuromuscular diseases prior to his referral to a neurologist. Several serologic testing was performed. (see Table 1) Based on testing, he had an elevated Aldolase and CPK with suspicion of a muscular disorder. For his absent contractility based on his HRM, he was started on Bethanechol, a cholinesterase inhibitor and muscarinic agonist at a dose of 25 mg prior to meals. Patient’s nutrition was supported with protein supplementation and a Gastrostomy-Jejunostomy tube was suggested due to significant oropharyngeal dysphagia. He was referred to the Myotonic Dystrophy Clinic.
Discussion: Patient’s presenting with oropharyngeal dysphagia who are found to have a hypotensive UES on HRM should spark concern for a myopathy or neurological etiology.
Citation: Mackenzie Jarvis, PA-C, DMSc; Eric Thompson, MD; Baha Moshiree, MD, MSc. P0299 - A RARE CASE OF MUSCULAR DYSTROPHY IN AN ADULT DIAGNOSED BY SUSPICION ON HIGH RESOLUTION ESOPHAGEAL MANOMETRY. Program No. P0299. ACG 2019 Annual Scientific Meeting Abstracts. San Antonio, Texas: American College of Gastroenterology.