Balance in patients with Marfan syndrome

Abstract

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.