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Disartría en la ataxia espinocerebelosa Tipo 3: Prevalencia y progresión de la enfermedad
Hai-Ping Ji1, Mao-Lin Cui1,2, Wei Lin1
1Department of Neurology, Fujian Institute of Neurology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China.
Journal of speech, language, and hearing research : JSLHR
|August 22, 2025
Resumen
La disartría afecta a más del 78% de los pacientes con ataxia espinocerebelosa tipo 3 (SCA3), siendo la duración de la enfermedad el predictor primario. Las dificultades del habla aumentan significativamente después de ocho años de enfermedad.
Área de la Ciencia:
- La neurociencia
- La genética
- Neurología Clínica
Sus antecedentes:
- La ataxia espinocerebelosa tipo 3 (SCA3) es un trastorno genético prevalente causado por la expansión repetida de CAG en el gen ATXN3.
- La disartria es un síntoma común que afecta la calidad de vida de los pacientes con SCA3.
- Existen investigaciones limitadas sobre la prevalencia y las correlaciones clínicas de la disartría en SCA3.
Objetivo del estudio:
- Investigar la prevalencia de la disartría en pacientes con SCA3.
- Identificar las características clínicas y los factores de progresión de la enfermedad asociados con la disartria.
- Determinar la relación entre la duración de la enfermedad y el inicio de la disartría en SCA3.
Principales métodos:
- Análisis retrospectivo de 183 pacientes con SCA3.
- Los pacientes se clasificaron en grupos de disartría y no disartría en función de las puntuaciones de la subescala de habla SARA.
- Análisis estadístico que incluye rho de Spearman, regresión logística y curvas de Kaplan-Meier.
Principales resultados:
- La prevalencia de disartria fue del 78,7% en la cohorte SCA3 estudiada.
- Los pacientes con disartría presentaron puntuaciones SARA más altas y una mayor duración de la enfermedad.
- La duración de la enfermedad fue el predictor más fuerte de disartría (r=0,319, p<0,001) y un factor pronóstico independiente.
Conclusiones:
- La disartría es muy frecuente en SCA3, fuertemente relacionada con la duración de la enfermedad.
- La incidencia de disartria aumenta con la progresión de la enfermedad, especialmente en la primera década posterior.
- La intervención temprana para la disartría es crucial para los pacientes con SCA3, especialmente durante las etapas avanzadas de la enfermedad.
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