Dysphagia in Perry Syndrome: Pharyngeal Pressure in Two Cases

Abstract

Background: To investigate the impact of dysphagia in Perry syndrome (PS), an autosomal dominant parkinsonism caused by mutation of DCTN1, which is associated with hypoventilation, depression, and weight loss. Case Presentation: We used tongue pressure measurements and manofluorography to investigate swallowing function in 2 patients with PS. Case 1, a 60-year-old male showing parkinsonism, and case 2, a 49-year-old male admitted with pneumonia, were diagnosed as having PS based on the DCTN1 gene analysis. Case 1 showed a pharyngeal retention of the bolus on videofluorography (VF) and a few swallows were required for its passage into the esophagus. However, tongue pressure and manometry were within the normal range. This patient could eat a normal diet under supervision. Case 2 required artificial ventilation and tube feeding on admission. The VF image showed a slow transfer of the bolus, delayed swallow reflex, and pharyngeal retention of the bolus that required several swallows for its passage into the esophagus. The tongue pressure was within the normal range, but manometry showed a significant decrease in pressure at the hypopharynx and upper esophageal sphincter. The oral intake of the patients was limited to 2 cups of jelly per day. Conclusions: The investigation of swallowing dysfunction of 2 cases of PS showed that maintaining pharyngeal pressure within the normal range was very important for oral feeding success and prognosis.

Clinical, pathological and genetic characteristics of Perry disease—new cases and literature review

“…Dysphagia was common, but probably under‐reported, as in 20 families no data on swallowing functions were provided. One study using manofluorography showed that dysphagia was caused by weakness of specific pharyngeal muscles, as opposed to the disturbed coordination of swallowing movements observed in PD [28]. Interestingly, a similar pattern of dysphagia due to muscle weakness is observed in amyotrophic lateral sclerosis (ALS) [29].…”