Dysphagia linked to clinical phenotype and disease progression in spinocerebellar ataxia type 3.

IF 3.4 3区 医学 Q2 MEDICINE, RESEARCH & EXPERIMENTAL
Cai-Ping Chen, Mao-Lin Cui, Wei Lin, Zhuo-Ying Huang, Bei-Ning Ye, Bin Cai, Shi-Rui Gan
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引用次数: 0

Abstract

Background: Spinocerebellar Ataxia type 3 (SCA3) is a widely recognized autosomal dominant disorder characterized by cerebellar ataxia, particularly prevalent in China. Dysphagia frequently arises in SCA3 and other neurological disorders, representing a significant threat to patient survival.

Objective: Examining the Prevalence of Dysphagia among SCA3 Patients and Its correlation with Clinical phenotype and Disease Progression.

Methods: We retrospectively analyzed 183 SCA3 patients, divided into dysphagia and non-dysphagia groups. Dysphagia, as an item within INAS, was assessed by ataxia specialists primarily based on patient-reported symptoms, supplemented by caregiver or family input when available. Spearman's rho tested factor associations with dysphagia, logistic regression identified dysphagia risk factors, and multivariable linear regression assessed dysphagia's effect on ataxia severity. Kaplan-Meier curves with first derivative fitting explored dysphagia progression over the disease duration.

Results: The study found 77.0% of SCA3 patients had dysphagia, with disease duration most strongly linked to its onset (r = 0.456, p < 0.001). Sex (p = 0.001; OR = 4.69, 95% CI = 1.85 to 11.88), AAO (p = 0.031; OR = 0.93, 95% CI = 0.87 to 0.99), SARA scores (p = 0.034; OR = 1.12, 95% CI = 1.01 to 1.25), and disease duration (p < 0.001; OR = 1.34, 95% CI = 1.14 to 1.57) were independent dysphagia risk factors. Dysphagia also affected SARA scores (p = 0.048). Dysphagia progression rate peaks within the first decade of disease onset, reaching maximal velocity at 6.5 years, with a median time to dysphagia onset of 9 years.

Conclusion: In China, dysphagia frequently occurs in SCA3 patients and can impact the severity of ataxia. The prevalence of dysphagia varies as the disease advances. These findings highlight the importance of timely intervention for dysphagia in SCA3 patients, particularly during the late stages of the first decade.

吞咽困难与脊髓小脑性共济失调3型的临床表型和疾病进展有关
背景:脊髓小脑性共济失调3型(SCA3)是一种公认的常染色体显性遗传病,以小脑性共济失调为特征,在中国尤为普遍。吞咽困难经常出现在SCA3和其他神经系统疾病中,对患者的生存构成重大威胁。目的:探讨SCA3患者吞咽困难的患病率及其与临床表型和疾病进展的关系。方法:回顾性分析183例SCA3患者,分为吞咽困难组和非吞咽困难组。吞咽困难作为INAS中的一个项目,由共济失调专家主要根据患者报告的症状进行评估,并辅以护理人员或家庭的意见。Spearman’s rho检验了与吞咽困难相关的因素,logistic回归确定了吞咽困难的危险因素,多变量线性回归评估了吞咽困难对共济失调严重程度的影响。Kaplan-Meier曲线与一阶导数拟合探讨了在疾病期间吞咽困难的进展。结果:研究发现77.0%的SCA3患者存在吞咽困难,病程与其发病关系最为密切(r = 0.456, p)。结论:在中国,SCA3患者经常出现吞咽困难,并可影响共济失调的严重程度。吞咽困难的患病率随着疾病的进展而变化。这些发现强调了及时干预SCA3患者吞咽困难的重要性,特别是在第一个十年的晚期。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
European Journal of Medical Research
European Journal of Medical Research 医学-医学:研究与实验
CiteScore
3.20
自引率
0.00%
发文量
247
审稿时长
>12 weeks
期刊介绍: European Journal of Medical Research publishes translational and clinical research of international interest across all medical disciplines, enabling clinicians and other researchers to learn about developments and innovations within these disciplines and across the boundaries between disciplines. The journal publishes high quality research and reviews and aims to ensure that the results of all well-conducted research are published, regardless of their outcome.
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