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[Spinocerebellar ataxia type 7].

作者信息

Zeigelboim Bianca Simone, Dumke Clari, Klagenberg Karlin Fabianne, Mengelberg Heidi

机构信息

Curso de Fonoaudiologia e Programa de Pós-graduação em Distúrbios da Comunicação, Universidade Tuiuti do Paraná – UTP – Curitiba (PR), Brasil.

出版信息

J Soc Bras Fonoaudiol. 2011;23(2):183-6. doi: 10.1590/s2179-64912011000200017.

Abstract

The aim of this study was to verify the possible alterations observed in a case of spinocerebellar ataxia type 7. The patient was referred to the Laboratory of Neurotology of Universidade Tuiuti do Paraná (Brazil), and was submitted to the following procedures: anamnesis, otoscopy, auditory and vestibular assessments. The case described is a 34-year-old woman with a genetic diagnosis of spinocerebellar ataxia type 7, who referred imbalance when walking, speech difficulties, headache, dizziness, and dysphagia. The audiological evaluation showed normal hearing thresholds and tympanometric curve type "A", with bilateral presence of stapedius reflex. In the vestibular evaluation, it was observed the presence of spontaneous and gaze nystagmus with central characteristics, altered optokinetic nystagmus and pendular tracking, and hyperreflexia during the caloric test. Labyrinth alterations were found, indicating central vestibular system affection and evidencing the importance of this evaluation. The existence of a possible relationship between the findings and the neurotological symptoms presented by the patient leads us to a new issue, that is, the importance of the applicability of rehabilitation exercises that act in central structures of neuroplasticity. These exercises accelerate and stimulate natural compensation mechanisms, which may provide the patient with ataxia a better performance of its functions.

摘要

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