Clinical 3-D Gait Assessment of Patients With Polyneuropathy Associated With Hereditary Transthyretin Amyloidosis

Abstract

Hereditary amyloidosis associated with transthyretin V30M (ATTRv V30M) is a rare and inherited multisystemic disease, with a variable presentation and a challenging diagnosis, follow-up and treatment. This condition entails a definitive and progressive motor impairment that compromises walking ability from near onset. The detection of the latter is key for the disease's diagnosis. The aim of this work is to perform quantitative 3-D gait analysis in ATTRv V30M patients, at different disease stages, and explore the potential of the obtained gait information for supporting early diagnosis and/or stage distinction during follow-up. Sixty-six subjects (25 healthy controls, 14 asymptomatic ATTRv V30M carriers, and 27 symptomatic patients) were included in this case-control study. All subjects were asked to walk back and forth for 2 min, in front of a Kinect v2 camera prepared for body motion tracking. We then used our own software to extract gait-related parameters from the camera's 3-D body data. For each parameter, the main subject groups and symptomatic patient subgroups were statistically compared. Most of the explored gait parameters can potentially be used to distinguish between the considered group pairs. Despite of statistically significant differences being found, most of them were undetected to the naked eye. Our Kinect camera-based system is easy to use in clinical settings and provides quantitative gait information that can be useful for supporting clinical assessment during ATTRv V30M onset detection and follow-up, as well as developing more objective and fine-grained rating scales to further support the clinical decisions.

Healthcare applications of single camera markerless motion capture: a scoping review

“…The main limitation reported by almost all studies in this group ( n = 4) ( Han, Bie & Nicorici, 2016 ; Vilas-Boas et al, 2019 ; Vilas-Boas et al, 2020 ) was small sample size. This was further associated with the rarity of the diseases, making recruitment of subjects for various disease stages difficult.…”

“…SCMoCap in this group was utilised with the intention of monitoring disease progression and planning rehabilitative treatment. All studies used cameras that include depth sensors, three studies used a Kinect v2 ( Carmo Vilas-Boas et al, 2019 ; Vilas-Boas et al, 2019 ; Vilas-Boas et al, 2020 ) and two studies used a Kinect v1 ( Han et al, 2015 ; Han, Bie & Nicorici, 2016 ). Depth sensors were utilised to be comparable to 3D marker-based systems and for studies involving understanding functional workspace ( Han et al, 2015 ; Han, Bie & Nicorici, 2016 ).…”

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

“…The objective of this study is to quantitatively characterize the gait pattern of patients with V30M ATTRv amyloidosis, thus providing information for a better understanding of the loss of function and with potential for supporting diagnosis and progression evaluation. To the best of our knowledge this analysis has not yet been reported with patients suffering of V30M ATTRv amyloidosis, with only one study reporting a selection of spatiotemporal and angular parameters obtained with a RGB-D camera [ 20 ] and another using a machine learning model to distinguish between healthy and V30M ATTRv amyloidosis mutation carriers (with or without symptoms), also using gait information recorded with a RGB-D system [ 21 ].…”

“…Due to the lack of information in the scientific literature [ 20 ], this study’s objective is to present an ATTRv V30M amyloidosis patients’ gait quantitative characterization over a period of 18 months. Since this is a rare disease, this study is structured as a case series reporting the gait pattern of five V30M ATTRv amyloidosis patients.…”

Supporting the Assessment of Hereditary Transthyretin Amyloidosis Patients Based On 3-D Gait Analysis and Machine Learning

“…The achieved results show that a single Kinect can be used to obtain several gait-related spatiotemporal parameters or measures, which can be useful for supporting clinical evaluations. We also explored if there was a statistically significant difference between healthy subjects and/or different groups of vATTR-V30M patients, for each one of the 24 computed parameters [44].…”