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

 Doyoung Kim  ;  Yoon Ghil Park  ;  Jung Hyun Park  ;  Jinyoung Park 
 Journal of the Korean Dysphagia Society (대한연하장애학회지), Vol.11(1) : 82-86, 2021-01 
Journal Title
 Journal of the Korean Dysphagia Society (대한연하장애학회지) 
Issue Date
Wilson’s disease ; Deglutition disorders ; Electrical stimulation
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.
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1. College of Medicine (의과대학) > Dept. of Rehabilitation Medicine (재활의학교실) > 1. Journal Papers
Yonsei Authors
Park, Yoon Ghil(박윤길) ORCID logo https://orcid.org/0000-0001-9054-5300
Park, Jung Hyun(박중현) ORCID logo https://orcid.org/0000-0003-3262-7476
Park, Jinyoung(박진영) ORCID logo https://orcid.org/0000-0003-4042-9779
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