ArticleCerebellum (London, England)2025
Article Title: Impact of Dysphagia on Quality of Life in Machado-Joseph Disease.
Article in Cerebellum (London, England), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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9 authors.
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Abstract
Dysphagia is a frequent symptom of spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease (MJD), being associated with alterations in nutritional intake and hydration, as well as an increased risk of aspiration pneumonia. This study aims to evaluate the impact of self-perceived dysphagia and its relationship with quality of life in SCA3/MJD mutation carriers. 41 SCA3/MJD mutation carriers from the Azorean cohort were recruited. The Swallowing Quality-of-Life Questionnaire (SWAL-QOL), the Eating Assessment Tool (EAT-10), the Functional Oral Intake Scale (FOIS), the Volume-Viscosity Swallow Test (V-VST), the Scale for the Assessment and Rating of Ataxia (SARA), the Inventory of Non-Ataxia Signs (INAS), and the Activities of Daily Living (ADL) were applied. Dysphagia was confirmed in 40% SCA3/MJD patients, whose SWAL-QOL was significantly decreased when compared to participants without dysphagia (p = 0.001). As expected, SCA3/MJD carriers with worse SWAL-QOL showed a high risk of dysphagia (p < 0.01), a worse functional oral intake of food and liquids (p < 0.01) and more severe ataxia (p < 0.01). Additionally, high severity of dysphagia reported on the INAS scale, (p < 0.01) and high frequency of swallowing disorders, perceived by SCA3/MJD carriers (p < 0.01) were observed in SCA3/MJD carriers with worse SWAL-QOL. Our findings confirm that dysphagia negatively impacts the quality of life of SCA3/MJD carriers, highlighting the need for permanent support by specialized healthcare professionals during disease progression. Additionally, we recommend that SCA3/MJD carriers with a score of 1 or higher on both the INAS dysphagia item and the ADL swallowing item be referred for specialized healthcare support in swallowing disorders.
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