Format

Send to

Choose Destination
Muscle Nerve. 2019 Jul;60(1):90-95. doi: 10.1002/mus.26485. Epub 2019 May 6.

Oropharyngeal dysphagia in early stages of myotonic dystrophy type 1.

Author information

1
Department of Phoniatrics, Instituto Nacional de Rehabilitación, Mexico City, Mexico.
2
Department of Genetics and Molecular Biology, CINVESTAV-IPN, Mexico City, Mexico.
3
Departamento de Genética, Instituto Nacional de Rehabilitación, Calz. México-Xochimilco No. 289, Col. Arenal Guadalupe, 14389 Ciudad de México (CDMX), México.
4
Biomedical Sciences Program, Faculty of Medicine, National Autonomous University of Mexico, Mexico City, Mexico.
5
Department of Bioengineering, School of Engineering and Sciences, Tecnológico de Monterrey, Mexico City, Mexico.

Abstract

INTRODUCTION:

Myotonic dystrophy type 1 (DM1) is a multisystemic disorder characterized mainly by skeletal muscle alterations. Although oropharyngeal dysphagia is a prominent clinical feature of DM1, it remains poorly studied in its early disease stages.

METHODS:

Dysphagia was investigated in 11 presymptomatic DM1 carriers, 14 patients with DM1 and 12 age-matched healthy controls, by using fiberoptic endoscopic evaluation of swallowing (FEES) and clinical scores.

RESULTS:

Scores for the FEES variables, delayed pharyngeal reflex, posterior pooling, and postswallow residue were significantly greater in patients with DM1 and in presymptomatic DM1 carriers than in healthy controls (P < 0.05); oropharyngeal dysfunction was more severe in patients than in presymptomatic carriers. Penetration/aspiration was found altered exclusively in patients with DM1 (P < 0.05).

DISCUSSION:

Swallowing dysfunction occurs in presymptomatic DM1 carriers. Timely diagnosis of dysphagia in preclinical stages of the disease will aid in the timely management of presymptomatic carriers, potentially preventing medical complications. Muscle Nerve, 2019.

KEYWORDS:

CTG repeats; dysphagia; fibroendoscopic evaluation; myotonic dystrophy type 1; presymptomatic; swallowing

PMID:
30994189
DOI:
10.1002/mus.26485

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center