Clinical Epidemiological Characterization of Patients with Hereditary Ataxia in Villa Clara

Abstract

Introduction: Hereditary ataxias are genetically disorders with great clinical heterogeneity.

Objective: To clinically-epidemiologically characterize patients with hereditary ataxias in Villa Clara province.

Methods: A descriptive, observational, analytical, cross-sectional study was carried out with 23 patients diagnosed with hereditary ataxias in Villa Clara in the period from September 2019 to March 2021. Descriptive statistical analysis was performed for each variable, in a frequency distribution, to analyze the association between two variables, the chi-square test was used, and the probability of occurrence ≤ 0.05 was considered statistically significant.

Results: The highest incidence of patients diagnosed with the disease was between 30 and 60 years of age; female sex, white skin and urban origin. 17.39% of the patients were negative for the genetic variants studied, 13.04% had the ScA3 subtype. Ataxia was the most frequent initial symptom; 32% showed the first manifestations between 21 and 30 years of age. The mean ± standard deviation obtained in the "Scale for the evaluation and classification of ataxia" was 24.09 ± 13.05 points.

Conclusions: Most of the population studied is between the ages of 30 and 60 and has family history of the disease; the wide clinical diversity that characterizes this disease is confirmed. Ataxia is reported as the initial clinical manifestation in all the patients. The inevitably progressive course of hereditary ataxias demonstrates the seriousness of this health problem that affects the country, and especially the province of Villa Clara.