EFACTS Çalışması'nda Friedreich'in Ataksisi Olan Hastalarda 12 Yıldan Fazla Ataksi Olmayan Envanterin Değiştirilmiş Bir Versiyonunun Analizi.

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BackgroundFriedreich's ataxia is a rare, neurodegenerative, multisystem disorder. While ataxia is a hallmark, non-ataxia signs, including muscle weakness, spasticity, and dysphagia are equally disabling. The Inventory of Non-Ataxia Signs (INAS) is a symptom list transformable to a 16-item count.ObjectiveTo evaluate the responsiveness of a modified INAS in this population.MethodsParticipants were drawn from the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS). The modified INAS count (presence/absence, 0-16 scale) and modified INAS sum (severity-weighted, 0-84 scale) were evaluated using linear mixed-models and standardized response means (SRMs). Items rare (ConclusionsThe modified INAS sum showed good responsiveness over 5 years but not over 1-3 years. It may supplement existing outcome measures, contributing to holistic assessment of this multisystem disease, especially in non-ambulatory patients, in whom ataxia-focused measures may show ceiling effects, and children, who typically progress faster. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

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