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. 2025 Sep 29;30(1):901.
doi: 10.1186/s40001-025-03154-6.

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

Cai-Ping Chen #  1 , Mao-Lin Cui #  1   2 , Wei Lin  1 , Zhuo-Ying Huang  1 , Bei-Ning Ye  1 , Bin Cai  3   4   5 , Shi-Rui Gan  6   7   8
Affiliations

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

Cai-Ping Chen et al. Eur J Med Res. .

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.

Keywords: Clinical phenotype; Disease progression; Dysphagia; Spinocerebellar ataxia type 3.

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Conflict of interest statement

Declarations. Ethics approval and consent to participate: We obtained ethical approval for this study from the Ethics Committee of the First Affiliated Hospital of Fujian Medical University, approval number MRCTA, ECFAH FMU [2006] 119. Additionally, we secured written informed consent from all participants. Children under the age of 18 have obtained written informed consent from the participants'parents for the study. We confirm that we have read the Journal’s position on issues involved in ethical publication and affirm that this work is consistent with those guidelines. Competing interests: The authors declare no competing interests.

Figures

Fig. 1
Fig. 1
illustrates the relationship between dysphagia and disease progression: A The Kaplan–Meier survival curve for dysphagia, with the Y-axis representing the proportion of individuals without dysphagia and the X-axis representing disease duration. B The spline-smoothed survival curve (5 knots). C The first derivative of the survival curve, where the sign indicates the correlation with the survival curve (a negative value suggests that as disease duration increases, the proportion of individuals without dysphagia decreases), and the absolute value represents the rate of onset of dysphagia
See this image and copyright information in PMC

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