Positive correlation of CTG expansion and pharyngoesophageal alterations in myotonic dystrophy patients

Ital J Neurol Sci. 1998 Apr;19(2):75-80. doi: 10.1007/BF02427560.

Abstract

Alteration of the pharyngoesophageal musculature is a common finding in patients with myotonic dystrophy (MD), regardless of the presence of dysphagia. The aim of the present study was to determine whether a specific pattern of swallowing abnormalities could be identified in MD patients, and the possible correlation with the size of CTG repeats. Fifteen MD patients, 8 of whom were asymptomatic for dysphagia, underwent a videofluoroscopic study of swallowing. Alterations of the pharyngoesophageal phase of swallowing were detected in 12 of 15 patients, 6 without clinical evidence of dysphagia. Incomplete relaxation of the upper esophageal sphincter (UES) and esophageal hypotonia were the most common alterations. We found a significant correlation between the number of radiological alterations and the size of CTG repeats. A typical radiological pattern of swallowing has also been identified. The role of videofluoroscopy in evaluation of MD patients is briefly discussed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Deglutition Disorders / diagnostic imaging
  • Deglutition Disorders / genetics*
  • Deglutition Disorders / physiopathology
  • Esophagus / physiopathology*
  • Female
  • Fluoroscopy
  • Humans
  • Male
  • Middle Aged
  • Myotonic Dystrophy / diagnostic imaging
  • Myotonic Dystrophy / genetics*
  • Myotonic Dystrophy / physiopathology
  • Pedigree
  • Pharynx / physiopathology*
  • Trinucleotide Repeat Expansion*
  • Video Recording