Positive Correlation of CTG Expansion and Pharyngoesophageal Alterations in Myotonic Dystrophy Patients

Overview

Journal Ital J Neurol Sci

Specialty Neurology

Date 2000 Aug 10

PMID 10935840

Citations 8

Authors

M Marcon

C Briani

M Ermani

E Menegazzo

V Iurilli

G P Feltrin

G Novelli

M Gennarelli

C Angelini

Affiliations

Soon will be listed here.

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.

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