Objective: To analyze the clinical characteristics, diagnostic pathways, and socioeconomic impact on newly registered SCA patients in China during the year 2025.

Background: Spinocerebellar ataxia (SCA) is a group of autosomal dominant neurodegenerative disorders characterized by progressive motor dysfunction, dysarthria, and oculomotor abnormalities. In China, despite an estimated prevalence of >100,000 cases, real-world data on clinical profiles, diagnostic journeys, and socioeconomic burdens remain insufficient to guide healthcare policy effectively.

Method: A multi-dimensional online quantitative survey was conducted, and data were collected from 692 genetically confirmed SCA patients through China Spinocerebellar Ataxia Association.

Results: Among 692 registered SCA patients, the median age was 40 years, with 47.69% aged 31–45. The cohort included 11.56% preclinical individuals, while clinical patients were predominantly in early (39.60%) and middle (36.99%) stages. SCA3 was the most common subtype (70.23%), followed by SCA1 (10.40%) and SCA2 (8.67%). Over 61% reported three-generational transmission.

Common symptoms included ataxia, bulbar issues (62.34%), oculomotor disturbances (29.87%), dizziness/orthostatic symptoms (44.16%), fatigue (42.86%), insomnia (31.17%), and constipation (22.08%). Only 35.55% were diagnosed on the first visit; 64.45% visited multiple hospitals, with diagnostic delays ranging from 1 to 10 years. Standardized scales (SARAs/ICARS) were used in only 11.27% of patients, and rehabilitation guidance was accessible to just 2.55%. Treatment remains limited to symptom relief.

Socioeconomically, 56% earned less than 10,000 RMB annually, and 51.45% were unemployed due to the disease. Although over 90% had national medical insurance, 48.1% lacked adequate knowledge about genetic inheritance or reproductive options (IVF/PGT).

Conclusion: SCA patients face significant diagnostic delays, high unemployment rates, lack of standardized clinical management, professional rehabilitation, and genetic counselling. There is an urgent need for disease-modifying therapies and a multidisciplinary “Diagnosis-Treatment-Rehabilitation” framework to mitigate the disease progression and reduce the disease burden to the families and the society.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/disease-burden-profile-of-patients-with-spinocerebellar-ataxia-in-china-a-real-world-registry-study-2025/