O objetivo deste estudo foi verificar as alterações vestibulococleares observadas em um caso de ataxia espinocerebelar tipo 6. O caso foi encaminhado do Hospital de Clínicas para o Laboratório de Otoneurologia de uma Instituição de Ensino e foi submetido aos seguintes procedimentos: anamnese, inspeção otológica, avaliações audiológica e vestibular. O caso retrata uma paciente com diagnóstico genético de ataxia espinocerebelar tipo 6, do sexo feminino, com 57 anos de idade, que referiu desequilíbrio à marcha com tendência a queda para a esquerda, disartria e disfonia. Na avaliação audiológica apresentou configuração audiométrica descendente a partir da frequência de 4kHz e curva timpanométrica do tipo "A" com presença dos reflexos estapedianos bilateralmente. No exame vestibular observou-se na pesquisa da vertigem posicional presença de nistagmo vertical inferior e oblíquo, espontâneo e semiespontâneo múltiplo com características centrais (ausência de latência, paroxismo, fatigabilidade e vertigem), nistagmooptocinético abolido e hiporreflexia à prova calórica. Constataram-se alterações labirínticas que indicaram afecção do sistema vestibular central evidenciando-se a importância dessa avaliação. A existência da possível relação entre os achados com os sintomas vestibulares apresentados pela paciente apontou a relevância do exame labiríntico neste tipo de ataxia uma vez que a presença do nistagmo vertical inferior demonstrou ser frequente neste tipo de patologia.

The aim of this study was to investigate the vestibulocochlear alterations observed in a case of spinocerebellar ataxia type 6. The case was referred from the Hospital das Clinicas to the Otoneurology Laboratory of an educational institution and was subjected to the following procedures: anamnesis, otologic examination, as well as audiological and vestibular assessments. The case shows a 57-year-old female patient with a genetic diagnosis of spinocerebellar ataxia type 6 who presented unsteadiness of gait with tendency to fall to the left, dysarthria, and dysphonia. The audiological assessment presented sloping audiometric configuration from 4.0 kHz and tympanogram type “A” with the presence of acoustic reflexes bilaterally. Observed during the survey of positional vertigo in the vestibular assessment were the presence of oblique and vertical downbeat nystagmus, spontaneous and semispontaneous with multiple core features (absence of latency, paroxysm, fatigue and vertigo), abolished optokineticnystagmus and hyporeflexia in the caloric test. We found labyrinthic alterations that indicate central vestibular system disorders and lend credence to the importance of this evaluation. The existence of a possible relationship between the findings and vestibular symptoms displayed by the patient indicated the relevance of the labyrinthine evaluation for this type of ataxia once the presence of vertical downbeat nystagmus proved to be frequent in this type of pathology.

INTRODUCTION: Spinocerebellar ataxia (SCA) is a degenerative disease that can cause loss of coordination of voluntary muscle movement such as that required for swallowing. AIMS: The purposes of this cross-sectional and comparative case study were: (1) to assess the severity of dysphagia through a videofluoroscopic swallow study, and (2) to compare differences in frequency, intensity, and duration of sound waves produced during swallowing in normal and SCA patients by using sonar Doppler. METHOD: During swallow evaluation using videofluoroscopy, a sonar Doppler transducer was placed on the right side of the neck, at the lateral edge of the trachea, just below the cricoid cartilage to capture the sounds of swallowing in 30 SCA patients and 30 controls. RESULT: The prevalence in the dynamic evaluation of swallowing videofluoroscopy was by changes in the oral phase of swallowing. The analysis of variance of the averages found in each variable - frequency, intensity and duration of swallowing - shows there was a significant correlation when compared to the healthy individual curve. CONCLUSION: The study demonstrates the prevalence of oral dysphagia observed in dynamic videofluoroscopic swallow evaluation. In patients with SCA, the mean initial frequency (IF), initial intensity (II), and final intensity (FI) were higher and the time (T) and peak frequency (PF) were lower, demonstrating a pattern of cricopharyngeal opening very close to that found in normal populations.