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Management of dysphagia in Huntington’s disease: a descriptive review

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Abstract

Huntington’s disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by involuntary choreatic movements, cognitive, behavioral, and psychiatric disturbances. Most HD suffer from dysphagia and aspiration pneumonia is the leading cause of death. However, little is known about dysphagia management in HD. A revision of the literature was conducted to depict the state of the art on the assessment and treatment of dysphagia in HD. Literature search of the last 10 years was performed using PubMed and EMBASE. Twenty-four studies were included: 16 cross-sectional studies, 2 case reports, 2 case series, 2 open-label trials, 1 pre-post study, and 1 randomized controlled trial. Based on the studies retrieved, dysphagia should be assessed from the early stage of the disease, especially when specific clinical markers occur. Timing for dysphagia re-assessment should be based on the recommendation of the swallowing experts on the individual case. Instrumental assessment of swallowing by videofluoroscopy or videoendoscopy is feasible and recommended to diagnose dysphagia in patients with HD. Clinical assessment tools and patient-reported outcome measures may be used to complete the swallowing examination, but not to replace instrumental assessment. The impact of pharmacological and rehabilitative treatments on dysphagia in HD has been little studied in literature. While the effect of tetrabenazine on swallowing is still controversial, compensatory strategies seem to be applicable and efficacious. To date, there are no well-proven rehabilitative strategies to improve swallowing function in patients with HD. The topic of dysphagia in HD remains poorly studied compared with its clinical relevance.

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Authors and Affiliations

  1. Phoniatric Unit, Department of Biomedical and Clinical Sciences “L. Sacco”, University of Milan, Via GB Grassi 74, 20157, Milan, Italy

    Nicole Pizzorni, Francesca Pirola & Antonio Schindler

  2. Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Piazzale Brescia 20, 20145, Milan, Italy

    Andrea Ciammola

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  1. Nicole Pizzorni
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  2. Francesca Pirola
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  4. Antonio Schindler
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Contributions

Conceptualization: Antonio Schindler and Andrea Ciammola; literature search and data analysis: Nicole Pizzorni and Francesca Pirola; writing—original draft preparation: Nicole Pizzorni and Francesca Pirola; writing review and editing: Nicole Pizzorni, Francesca Pirola, Andrea Ciammola, and Antonio Schindler; supervision: Antonio Schindler and Andrea Ciammola.

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Correspondence to Nicole Pizzorni.

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Pizzorni, N., Pirola, F., Ciammola, A. et al. Management of dysphagia in Huntington’s disease: a descriptive review. Neurol Sci 41, 1405–1417 (2020). https://doi.org/10.1007/s10072-020-04265-0

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