马凡氏综合征患者的平衡

S. Monteleone, Lucia Feltroni, E. Arbustini, E. Bernardi, G. Carenzio, E. D. Toffola, M. Schieppati
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引用次数: 2

摘要

背景:马凡氏综合征(MFS)是一种以结缔组织为靶点的遗传性常染色体显性遗传病。与其他类似疾病一样,关节过度活动可导致来自关节受体的本体感觉信息异常、反射模式错误和平衡控制障碍。目的:分析MFS患者的静态和动态平衡及视力的影响。方法:纳入27例经证实遗传诊断为MFS的患者。29名健康受试者为对照组。平衡评估(睁开眼睛和闭上眼睛)通过使用计算机化的力平台进行,该平台记录了在静态和动态条件下由动员支撑基座产生的脚中心压力(CoP)位移的摇摆路径(SP)和摇摆区域(SA)。结果:所有对照受试者在不考虑视觉条件的情况下均进行静态和动态试验。三分之二的马凡氏症患者的结果与正常人睁开眼睛的结果重叠。然而,在闭上眼睛的情况下,摇摆面积明显更大。三分之一的患者没有闭着眼睛完成动态试验(其中一些甚至是睁开眼睛)。结论:由于本体感觉信息异常,视觉对MFS患者至关重要,这可能与关节和肌肉受体的混淆机械反射效应有关。为了防止跌倒的危险,计划一个以本体感觉为中心的康复方法似乎是适当的。
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Balance in patients with Marfan syndrome
BACKGROUND: Marfan syndrome (MFS) is an inherited, autosomal dominant disorder that targets the connective tissue. As in other similar disorders, joint hypermobility can contribute to abnormal proprioceptive information from joint receptors, faulty reflex patterns and impairment in balance control. OBJECTIVE: Aim of this study was to analyse static and dynamic balance and the effect of vision in patients with MFS. METHODS: Twenty-seven patients with a proven genetic diagnosis of MFS were enrolled. Twenty-nine healthy subjects were the control group. Balance evaluations (eyes open and eyes closed) were performed by using a computerized force platform that recorded Sway Path (SP) and Sway Area (SA) of centre of feet pressure (CoP) displacement under static and dynamic conditions produced by mobilizing the support base. RESULTS: All control subjects performed the static and dynamic trials regardless of the visual conditions. Two thirds of the Marfan patients gave results superimposable to those of normal subjects’ eyes open. However, sway area measures were significantly larger under eyes closed conditions. One third of the patients did not complete the dynamic trials eyes closed (some of these even with eyes open). CONCLUSIONS: Vision is critical for patients with MFS because of abnormal proprioceptive information, possibly connected to confounding mechanical reflex effects from joints and muscle receptors. It would seem appropriate to plan a rehabilitative approach centred on proprioception in order to prevent the risk of fall.
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