Abstract:
Rare neurological diseases as a whole share peculiar features as motor and/or cognitive impairment, an elevated disability burden, a frequently chronic course and, in present times, scarcity of therapeutic options. The rarity of those conditions hampers both the identification of significant prognostic outcome measures, and the development of novel therapeutic approaches and clinical trials. Collection of objective clinical data through digital devices can support diagnosis, care, and therapeutic research. We provide an overview on recent developments in the field of digital tools applied to rare neurological diseases, both in the care setting and as providers of outcome measures in clinical trials in a representative subgroup of conditions, including ataxias, hereditary spastic paraplegias, motoneuron diseases and myopathies.
摘要:
罕见的神经系统疾病作为一个整体具有独特的特征,如运动和/或认知障碍,残疾负担加重,一个经常慢性的过程,在当今时代,治疗选择的稀缺性。这些条件的稀有性阻碍了对重要预后结果指标的识别,以及新的治疗方法和临床试验的发展。通过数字设备收集客观的临床数据可以支持诊断,care,和治疗研究。我们概述了应用于罕见神经系统疾病的数字工具领域的最新进展,无论是在护理环境中,还是在具有代表性的亚组条件的临床试验中作为结果测量的提供者,包括共济失调,遗传性痉挛性截瘫,运动神经元疾病和肌病。