Abstract

Nystagmus has various clinical manifestations, including downbeat, upbeat, and torsional types, each associated with distinct neurologic features. Current rehabilitative interventions focusing on fixation training and optical correction often fail to achieve complete resolution. When nystagmus coexists with fragile X-associated tremor/ataxia syndrome (FXTAS), functional impairments worsen, particularly affecting balance. Recognizing these limitations, the authors propose an innovative approach using audiovisual stimulation to complement visual pursuit training and optical compensation, potentially improving rehabilitation outcomes. This study describes the case of a 60-year-old woman with worsening nystagmus and cerebellar ataxia suggestive of FXTAS who underwent a customized rehabilitation program. The program included 30 sessions involving audiovisual training and physical exercises. Visual performance assessments were conducted using AV-Desk and Nidek MP-1 microperimeters, with functional assessments including the Barthel Modified Index, 10-meter walking test, timed Up and Go, and Berg Balance Scale. After treatment, visual performance improved with reduced response times and higher success rates, especially without drugs. Fixation stability improved consistently using the bivariate contour ellipse area method. Functional assessments showed enhanced mobility and balance, with benefits sustained at the 6-month follow-up. The combined approach of audiovisual training, proprioceptive training, and targeted muscle strengthening has proven effective. Notable improvements in overall physical performance, especially in balance and gait, and a reduction in nystagmus severity were observed. Integrating audiovisual stimulation into rehabilitation protocols shows promising results in managing nystagmus and ataxia, significantly enhancing patients' quality of life. Further studies are needed to validate these findings and expand upon this approach.

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