I06 Dysphagia In Huntington`s Disease: A Multicenter Study

Mariscal, Natividad; Cubo, Esther; Rivadeneyra, J; Armesto, Diana; Mateos, Ana; Cámara, Rafael J. A.; Martínez, Asunción

doi:10.1136/jnnp-2014-309032.168

Cited by 2 publications

(4 citation statements)

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“…Even though decreased caloric intake as a result of dysphagia has been proposed as a physiological mechanism leading to weight loss in HD and SCAs, 44‐46 no significant association was found between BMI and dysphagia in our study. Our results are consistent with studies showing no significant associations between BMI and dysphagia in patients with HD 19 or SCAs 21,24,25 .…”

Section: Discussioncontrasting

confidence: 87%

Body Mass Index Is Significantly Associated With Disease Severity in Spinocerebellar Ataxia Type 2 Patients

et al. 2021

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A BS TRACT: Background: Spinocerebellar ataxia type 2 is a progressive neurodegenerative disorder due to an unstable expansion of a CAG repeat in the ATXN2 gene. Although weight loss has been associated with disease progression in several neurodegenerative conditions, it has been barely assessed in patients with spinocerebellar ataxia type 2. Objective: The objective of this study was to test whether body mass index is altered in patients with spinocerebellar ataxia type 2 with varying expansion sizes from early to late disease stages. Methods: A cross-sectional case-control study was performed, which included 222 clinically and molecularly diagnosed patients and 214 sex-and age-matched healthy individuals. ATXN2 genotypes and sex were considered as risk factors. Clinical outcomes included the body mass index, age at onset, disease duration, Scale for the Assessment and Rating of Ataxia score, disease stage, dysphagia, and progression rate. Multiple linear regression models were generated.Results: Body mass index was significantly decreased in male patients, but not in female patients, relative to control subjects. In addition to sex, body mass index was significantly associated with age at onset and progression rate. Conversely, body mass index, along with repeat length in ATXN2 expanded alleles and disease duration, was associated with Scale for the Assessment and Rating of Ataxia score. In addition, body mass index, along with the age at onset and the repeat length in ATXN2 normal and expanded alleles, has a significant influence on progression rate. Conclusions: Body mass index might be a useful biomarker of disease severity, particularly in male patients with spinocerebellar ataxia type 2 in the context of nutritional interventions or clinical trials assessing the efficacy of promising new drugs.

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Section: Discussioncontrasting

confidence: 87%

Body Mass Index Is Significantly Associated With Disease Severity in Spinocerebellar Ataxia Type 2 Patients

et al. 2021

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“…Apart from case-reports, the sample size of the studies assessing dysphagia through instrumental evaluation ranged from a minimum of 13 subjects to a maximum of 86. The greatest samples examined were made of 224 [9] and 509 [11] participants, but only included patient-reported swallowing outcomes.…”

Section: Resultsmentioning

confidence: 99%

“…old age [9,15] high Unified Huntington's Disease Rating Scale (UHDRS) motor score [9,15] poor cognitive status [9,16] dysphonia [6,14] dysarthria [6,[14][15]17] tongue movements alterations [15,17].…”

Section: When To Assess Swallowing In Hdmentioning

confidence: 99%

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

et al. 2020

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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-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 occurs. 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 feasable 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 seems 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 to its clinical relevance.

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I06 Dysphagia In Huntington`s Disease: A Multicenter Study

Cited by 2 publications

References 0 publications

Body Mass Index Is Significantly Associated With Disease Severity in Spinocerebellar Ataxia Type 2 Patients

Body Mass Index Is Significantly Associated With Disease Severity in Spinocerebellar Ataxia Type 2 Patients

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

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