Dysphagia in Wilson’s Disease: A Case Report of One-Year Follow-Up / 대한연하장애학회지

ABSTRACT

Wilson’s disease (WD) is a genetic disease caused by an ATP7B gene mutation. Although dysphagia is known as a neurological manifestation of WD, clinical case reports with post-treatment long-term follow-up are scarce. A 17-year-old male was admitted to hospital complaining of general weakness and swallowing difficulty. He was diagnosed with WD by genetic confirmation. Assessment of the videofluoroscopic swallowing study (VFSS) determined an initial videofluoroscopic dysphagia scale (VDS) score of 48. After 11 months treatment with D-penicillamine and neuromuscular electrical stimulation therapy (NMES) with oromotor exercises, the VDS score improved to 23, especially in the following areas mastication, apraxia, premature bolus loss, triggering of pharyngeal swallow, and laryngeal elevation. Dysphagia is an early neurological symptom of WD, and is reversible when properly treated with early diagnosis. Thus, since WD is treatable, patients presenting with dysphagia should be indicative of high probability of the disease, and evaluated at the earliest. NMES treatment in combination with D-penicillamine helps to improve the deglutition function in both oral and pharyngeal phases. To investigate the characteristics of dysphagia and the specific clinical efficacy of NMES in WD, further studies with larger number of patients are required.