Gait Characterization and Analysis of Hereditary Amyloidosis Associated with Transthyretin Patients: A Case Series

Abstract

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.

Does Anterior Cruciate Ligament Reconstruction with a Hamstring Tendon Autograft Predispose to a Knee Valgus Alignment on Initial Contact during Landing? A Drop Vertical Jump Movement Analysis

“…Other methods have been used to assess different movements: the use of force platforms has been conducted by authors to collect data from the procedure [16]; in other cases, a kinematic analysis was performed via a two-dimensional (2D) frontal plane projection angle of knee alignment measured during the DVJ [17]. Current motion capture methods, based either on anatomical marker placement or on the new markerless approaches [18][19][20], have been used to capture movements and process videos to identify limbs' position and orientation. These methods provide a three-dimensional representation of the body segments, enabling a more precise extraction of the joint centers and angles [21] and the modeling of a six degrees-of-freedom model of the individual's movement, which could not be achieved with other methods.…”