Swallowing dysfunction in myotonic dystrophy: a retrospective study of symptomatology and radiographic findings

Swallowing dysfunction is a common symptom of myotonic dystrophy, but it is poorly documented in large patient series. This retrospective study was designed to investigate the presence of swallowing symptoms in a large study population and to describe a specific pattern of clinical and radiographic abnormalities.

A retrospective analysis was made of 169 files of patients with confirmed MD. Neuromuscular assessment was made by means of a standardised neurological examination; clinical swallowing symptoms were listed, and video-fluoroscopic images were analysed.

More than half the patients reported swallowing complaints. The major symptoms were frequent choking, difficult pharyngeal transport and piecemeal deglutition. The pharyngeal phase of swallowing was most frequently compromised. This was shown radiographicaly in reduced pharyngeal peristalsis, hypopharyngeal stasis and fragmented swallowing. Aspiration was seen in half of the patients, mostly during swallowing. A typical 'hung position' of the hyoid was also seen. Different onset types of MD seem to be accompanied by comparable subjective complaints and radiographic symptoms.

Pharyngeal transport was most affected in this patient population. Muscular weakness seems to be the major contributor to swallowing impairment in MD. Swallowing abnormalities may be present even if patients report only a few symptoms and even if the severity of the disease is not pronounced.