与转甲状腺素蛋白(ATTRv)相关的遗传性淀粉样变性,是一种罕见的常染色体显性疾病,其特征是长度依赖性对称性多发性神经病,其后果之一是步态受损。V30MATTRv淀粉样变性患者的步态模式已被描述为与糖尿病性神经病变相似,与步骤页相关联,但从未被定量表征。在这项研究中,我们旨在表征V30MATTRv淀粉样变性患者的步态模式,从而为更好地理解和支持诊断和疾病进展评估提供了信息。我们提出了一个案例系列,其中我们进行了两次步态分析,相隔18个月,在使用12台摄像机的五名V30MATTRv淀粉样变性患者中,基于标记,光学系统以及六个力平台。线性运动学,地面反作用力,并对所有患者的角度运动学结果进行分析。所有患者,除了一个,在第二次评估中显示出延迟的脚趾,以及过度的骨盆旋转,髋关节伸展和外部横向旋转和膝关节屈曲(在站立和摆动阶段),随着减少的垂直和中外侧地面反作用力。所描述的步态异常没有临床量化;因此,步态分析可能有助于评估可能的疾病进展以及临床评估。
Hereditary amyloidosis associated with transthyretin (ATTRv), is a rare autosomal dominant disease characterized by length-dependent symmetric polyneuropathy that has gait impairment as one of its consequences. The gait pattern of V30M ATTRv amyloidosis patients has been described as similar to that of diabetic neuropathy, associated with steppage, but has never been quantitatively characterized. In this study we aim to characterize the gait pattern of patients with V30M ATTRv amyloidosis, thus providing information for a better understanding and potential for supporting diagnosis and disease progression evaluation. We present a
case series in which we conducted two gait analyses, 18 months apart, of five V30M ATTRv amyloidosis patients using a 12-camera, marker based, optical system as well as six force platforms. Linear kinematics, ground reaction forces, and angular kinematics results are analyzed for all patients. All patients, except one, showed a delayed toe-off in the second assessment, as well as excessive pelvic rotation, hip extension and external transverse rotation and knee flexion (in stance and swing phases), along with reduced vertical and mediolateral ground reaction forces. The described gait anomalies are not clinically quantified; thus, gait analysis may contribute to the assessment of possible disease progression along with the clinical evaluation.