Positive correlation of CTG expansion and pharyngoesophageal alterations in myotonic dystrophy patients.
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.
Marcon
M
M
Department of Neurology, University of Padua, Padova, Italy.
Briani
C
C
Ermani
M
M
Menegazzo
E
E
Iurilli
V
V
Feltrin
G P
GP
Novelli
G
G
Gennarelli
M
M
Angelini
C
C
D000328:Adult; D003680:Deglutition Disorders / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D004947:Esophagus / Q000503:physiopathology*; D005260:Female; D005471:Fluoroscopy; D006801:Humans; D008297:Male; D008875:Middle Aged; D009223:Myotonic Dystrophy / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D010614:Pharynx / Q000503:physiopathology*; D019680:Trinucleotide Repeat Expansion; D014741:Video Recording