Oropharyngeal Dysphagia in Myotonic Dystrophy Type 1: A Systematic Review

Abstract

A systematic review was conducted to investigate the pathophysiology of and diagnostic procedures for oropharyngeal dysphagia in myotonic dystrophy (MD). The electronic databases Embase, PubMed, and The Cochrane Library were used. The search was limited to English, Dutch, French, German, Spanish, and Portuguese publications. Sixteen studies met the inclusion criteria. Two independent reviewers assessed the methodological quality of the included articles. Swallowing assessment tools, the corresponding protocols, the studies' outcome measurements, and main findings are summarized and presented. The body of literature on pathophysiology of swallowing in dysphagic patients with MD type 1 remains scant. The included studies are heterogeneous with respect to design and outcome measures and hence are not directly comparable. More importantly, most studies had methodological problems. These are discussed in detail and recommendations for further research on diagnostic examinations for swallowing disorders in patients with MD type 1 are provided.

The relationship between fiberoptic endoscopic evaluation of swallowing outcome and symptoms of anxiety and depression in dysphagic patients

“…For example silent aspiration, a severe swallowing abnormality, can occur without subjectively suffering from it . Moreover, several patient groups (neurodegeneration, stroke, head and neck oncology postradiation and postsurgery) tend to have sensory deficits that may contribute to inaccurate judgment . Inaccuracy of perceptual judgment (underestimation of the problem) may manifest itself in fewer subjective complaints .…”

“…One hundred seven patients with OD complaints were recruited at the outpatient clinic for otorhinolaryngology and divided into three main diagnostic groups (Table I). Fifty-four patients suffered from neurological diseases (e.g., Parkinson's disease, stroke), 35 patients from miscellaneous or other etiologies (e.g., Zenker's diverticulum, cervical spine degeneration), and 18 patients from head and neck oncological diseases. At the time of examination, all head and neck oncological patients had received curative oncological treatment at least 6 months prior to inclusion.…”

Oropharyngeal dysphagia in early stages of myotonic dystrophy type 1

“…Swallowing function was assessed in patients with DM1 and presymptomatic DM1 mutation carriers by using FEES, clinical and molecular analyses, and the Dysphagia Handicap Index (DHI) . To evaluate swallowing physiology, FEES was performed with food and liquids at different standardized consistencies . We chose FEES analysis for this study because it is an inexpensive, easy‐to‐perform, well‐tolerated, and sensitive technique that allows anatomic and functional evaluation of the pharyngolaryngeal phase of swallowing .…”

“…Previous studies have shown that gastrointestinal alterations are common in myotonic dystrophy type 1 (DM1) . Dysphagia, which is defined as difficulty in swallowing food and/or liquids, has a prevalence ranging from 25% to 80% in DM1 .…”

“…Previous studies have shown that gastrointestinal alterations are common in myotonic dystrophy type 1 (DM1) . Dysphagia, which is defined as difficulty in swallowing food and/or liquids, has a prevalence ranging from 25% to 80% in DM1 . Patients with DM1 experiencing dysphagia report coughing while eating, heartburn, a choking sensation, dysphonia, dyspepsia, and chest pain or reflux as symptoms arising from the upper digestive tract, whereas motility disorders, abdominal pain, constipation, bloating, and changes in bowel habits are common disturbances of the lower digestive tract .…”