Dysphagia is present but mild in myotonic dystrophy type 2

Abstract The phenotype of myotonic dystrophy type 2 (DM2) shows similarities as well as differences to that of myotonic dystrophy type 1 (DM1). Dysphagia, a predominant feature in DM1, has not yet been examined in DM2. In a recent nationwide questionnaire survey of gastrointestinal symptoms in DM2,...

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2009-03, Vol.19 (3), p.196-198
Main Authors: Tieleman, A.A, Knuijt, S, van Vliet, J, de Swart, B.J.M, Ensink, R, van Engelen, B.G.M
Format: Article
Language:English
Subjects:
Adult
Age Distribution
Aged
Data Collection
Deglutition - physiology
Deglutition Disorders - diagnosis
Deglutition Disorders - genetics
Deglutition Disorders - physiopathology
Disability Evaluation
Dysphagia
Endoscopy, Gastrointestinal
Esophagus - physiopathology
Female
Fiberoptic endoscopic evaluation of swallowing (FEES)
Genetic Predisposition to Disease - genetics
Humans
Male
Middle Aged
Muscle, Skeletal - physiopathology
Myotonic Dystrophy - classification
Myotonic Dystrophy - complications
Myotonic Dystrophy - physiopathology
Myotonic dystrophy type 2
Neurology
Pharynx - physiopathology
PROMM
Severity of Illness Index
Surveys and Questionnaires
Swallowing difficulty
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Summary:Abstract The phenotype of myotonic dystrophy type 2 (DM2) shows similarities as well as differences to that of myotonic dystrophy type 1 (DM1). Dysphagia, a predominant feature in DM1, has not yet been examined in DM2. In a recent nationwide questionnaire survey of gastrointestinal symptoms in DM2, 12 out of 29 DM2 patients reported to have difficulty in swallowing for solid food. The aim of the study was to investigate the presence of dysphagia in patients with genetically proven DM2 who reported difficulty in swallowing for solid food at the questionnaire survey. Swallowing function and fiberoptic endoscopic evaluation of swallowing (FEES) were examined by a speech therapist and otorhinolaryngologist, respectively. In DM2 patients who reported difficulty in swallowing the presence of dysphagia could be confirmed (clinically in 100%, by FEES in 88%). A correlation exists between Dysphagia Outcome and Severity Score (DOSS) and age ( p = 0.05). None of the patients was underweight, and none of the patients had suffered aspiration pneumonia in the past. Dysphagia is present among DM2 patients and is more severe in older patients. However, dysphagia is generally mild, and do not lead to weight loss, or aspiration pneumonia.
ISSN:0960-8966
1873-2364
DOI:10.1016/j.nmd.2008.12.002