Vestibular findings in autosomal recessive ataxia

Abstract

Objective: This study aims to examine vestibular disorders in patients with recessive spinocerebellar ataxia. Design: A retrospective cross-sectional study was conducted. The patients underwent the following procedures: case history, ENT and vestibular evaluations. Study sample: The tests were performed in 19 patients ranging from 6 to 63 years of age (mean age of 36.7). Results: Clinically, the patients commonly had symptoms of dizziness (57.8%), lack of coordination of movement with imbalance when walking (52.6%), and headaches (42.1%). In vestibular testing, alterations were predominantly evident under caloric testing (73.5%), rotational chair testing, and testing for gaze and optokinetic nystagmus (36.8%). The presence of alterations occurred under examination in 89.5% of these patients, 100% occurred in subjects with Friedreich’s ataxia and 84.6% for subjects with indeterminate recessive spinocerebellar ataxia, with the majority occurring in those with central vestibular dysfunction, 57.9% of the examinations. Conclusion: The most evident neurotological symptoms were dizziness, lack of coordination of movement, and imbalance when walking. Alterations in vestibular examinations occurred in 89.5% of patients, mostly in the caloric test, with a predominance of deficient central vestibular system dysfunction. This underscores the importance of the contribution of topodiagnostic labyrinthine evaluations for neurodegenerative diseases.