Self-reported postural symptoms predict vestibular dysfunction and falls in patients with multi-sensory impairment.

Self-reported postural symptoms predict vestibular dysfunction and falls in patients with multi-sensory impairment.
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自我报告的姿势症状可预测多感觉障碍患者的前庭功能障碍和跌倒。

DOI:
10.1007/s00415-021-10921-y
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发表时间:
2022
影响因子:
6
通讯作者:
Bennett E
Bennett E
中科院分区:
医学2区
文献类型:
--
作者:
Bennett E

文献摘要

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姿势控制由中枢神经系统的传出和传入通路的高度复杂系统调节。前庭系统、小脑、大脑皮层和网状结构之间的相互作用与来自外感受器、视觉感受器和本体感受器的输入相结合,以维持姿势控制。在许多神经系统疾病状态下,姿势控制可能会受到影响,特别是在感觉障碍的患者中[1]。虽然已经针对姿势功能障碍对感觉障碍进行了彻底的研究[2,3],但多感觉功能障碍及其对姿势控制的影响是一个活跃的研究领域。原发性线粒体疾病(PMD)是由线粒体或核编码DNA突变引起的遗传异质性疾病[4]。共济失调、神经病变、肌病和前庭功能障碍是常见的表现[5-8];因此,PMD代表了多感觉障碍的临床模型。来自高尔基体腱器官和肌梭的位置感觉信息(本体感觉)代表了肌肉内平衡感知的感觉成分,肌病也可能损害平衡反应。虽然不是纯粹意义上的感觉器官,但肌肉对平衡做出了重大贡献。肌病(以及姿势肌的相关异常功能)已被纳入该多感觉障碍模型中。了解这些相对贡献的姿势控制和福尔斯可能有治疗的意义,在这些importations. There的物理治疗方法的差异,我们调查的相对贡献的感觉障碍与PMD患者的姿势控制作为一个人类模型的多感觉功能障碍,并探讨这些障碍如何与福尔斯的风险。这是一项单中心、回顾性、观察性研究,基于2020年9月至2021年2月期间在伦敦国立神经病学和神经外科医院NHS英格兰高度专业化服务罕见线粒体疾病诊所就诊的患者的病历审查。本研究的入选标准为经证实的PMD遗传学和/或临床病理学诊断的成人(16岁以上)。患者是从一个大型临床数据库中确定的,该数据库是正在进行的听前庭功能前瞻性研究的一部分。从病历中系统收集每例患者的人口统计学和临床数据。包括PMD的遗传和/或临床病理学基础的详细信息。我们特别记录了共济失调,周围神经病变和肌病的存在,此外,
Postural control is regulated by a highly complex system of efferent and afferent pathways of the central nervous system. Interactions between the vestibular system, cerebellum, cerebral cortex and reticular formation are integrated with inputs from the exteroceptors, visual receptors and proprioceptors to maintain postural control. In many neurological disease states, postural control may be compromised, particularly in those with sensory impairment [1]. While sensory disturbances have been thoroughly investigated individually against postural dysfunction [2, 3], multi-sensory dysfunction and its effect on postural control is an area of active research. Primary mitochondrial diseases (PMDs) are a genetically heterogenous group of conditions, caused by mutations to either mitochondrial or nuclearencoded DNA [4]. Ataxia, neuropathy, myopathy, and vestibular dysfunction are common manifestations [5–8]; thus, PMDs represent a clinical model of multi-sensory impairment. Positional sense information (proprioception) from Golgi tendon organs and muscle spindles represent a sensory component of balance perception from within muscles, with myopathy also potentially compromising balance reactions. Whilst not a sensory organ in purist terms, muscles make a significant contribution to balance. Myopathy (and associated abnormal functioning of postural muscles) has been included in this model of multi-sensory impairment. Understanding the relative contributions of these to postural control and falls may have therapeutic implications, given the differences in physical therapy approaches across these impairments.Here, we investigate the relative contributions of sensory impairment to postural control in patients with PMDs as a human model of multi-sensory dysfunction and explore how these impairments relate to falls risk. This was a single-centre, retrospective, observational study based on chart review of patients attending the NHS England Highly Specialised Service for Rare Mitochondrial Disorders clinic at The National Hospital for Neurology and Neurosurgery, London, between September 2020 and February 2021. The inclusion criteria of this study were adults (over the age of 16) with a confirmed genetic and/or clinicopathological diagnosis of PMD. Patients were identified from a large clinical database that formed part of an ongoing prospective study of audiovestibular function. Demographic and clinical data were systematically collected for each patient from medical records. Details of the genetic and/or clinicopathological basis for PMD were included. We specifically documented the presence of ataxia, peripheral neuropathy, and myopathy, in addition