Dysphagia in Perry Syndrome: Pharyngeal Pressure in Two Cases.

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.

Characteristics of tongue and pharyngeal pressure in patients with neuromuscular diseases.

BACKGROUND: Tongue and pharyngeal pressure is an essential factor associated with the swallowing function; however, little is known about the difference in tongue and pharyngeal pressure between neuromuscular diseases. This study aimed to characterize tongue and pharyngeal pressure in myotonic dystrophy type 1 (DM1), Duchenne muscular dystrophy (DMD), and amyotrophic lateral sclerosis (ALS) patients. METHODS: This study recruited 17 DMD patients, 32 DM1 patients, and 26 ALS patients. They underwent separate measurements of tongue and pharyngeal pressure under videofluoroscopy, swallowing 5 mL of barium water. We measured the largest change in pharyngeal pressure in the hypopharynx and the upper esophageal sphincter (UES) over several swallows. RESULTS: The mean tongue pressure (TP) was greatest in the DMD group than in the other groups (p<0.01). There was a significant difference in pressure changes in the hypopharynx and UES between the DM1 group and other groups (p<0.01). Significant correlations were observed between pressure change in the UES and the patient's age in the DMD group (R=-0.500, p=0.045) and between pressure change in the hypopharynx and TP in the DM1 group (R=0.421, p=0.016). There was a significant correlation between pressure change in the hypopharynx and disease severity in the ALS group (R=0.435, p=0.030). CONCLUSION: Patients with DMD, DM1, and ALS have weakness in the muscles involved in swallowing; however, the results of this study suggested that each disorder has a distinctive profile of impairment in the swallowing function.