Biology subjects

Muccini, J.

Publications and source records attributed to Muccini, J..

5 recordsLinked to original sources

bioRxiv2026

Deep learning models detect neuromuscular disease and quantify functional impairment from video-derived biomechanics data

Measurements of human movement are critical for evaluating patients with neuromuscular diseases. However, current clinical tools are limited in sensitivity and can fail to detect the full spectrum of movement changes patients may exhibit. These limitations can obscure early signs of decline, delaying interventions that could preserve function and independence. OpenCap, a smartphone application that performs video-based markerless motion capture, can help address this gap by enabling scalable, out-of-lab measurements of human movement. Here, we present a method for both detecting disease and quantifying the severity of impaired movement from smartphone videos of patient motion. We used OpenCap to measure kinematics from 337 individuals with diagnoses spanning 12 rare, genetically-defined neuromuscular diseases and 78 age-matched healthy controls. Our dataset is the largest existing publicly available resource of body segment kinematics for this class of diseases. These data were collected in neuromuscular clinics during regular clinic visits as well as at conferences and community events across the United States. We trained deep learning models on these kinematic time series to differentiate between participants with neuromuscular disease and controls (AUROC = 0.97 [0.93-1.00]). We also developed a movement impairment severity score that correlates with both participant ratings of their own functional abilities ({rho} = -0.81, p < 0.001) and existing clinical tests of movement capabilities such as run speed ({rho} = -0.83, p < 0.001). Our methods for detecting disease and deriving quantitative biomarkers of movement impairment from smartphone videos have the potential to complement clinical assessments, inform screening protocols, and improve clinical trial endpoints.

bioengineering↗

bioRxiv2026

StaBLE: digital metrics capture balance performance across a wide spectrum of balance tasks and abilities

Balance is fundamental to mobility and independence, yet it remains difficult to measure in a way that is both clinically meaningful and feasible for widespread adoption. There is a need for more quantitative, objective, and accessible balance assessments. To this end, we created the Stanford Balance Level Evaluation (StaBLE), a battery of 18 balance-challenging tasks and accompanying digital performance metrics computed from video that aimed to capture widely ranging balance abilities across 180 participants. We validated the StaBLE score against existing clinical scales and found that it correlated with age ({rho} = -0.76, p<0.001), the Activities-Specific Balance Confidence Scale ({rho} = 0.60, p<0.001), a Mini-Balance Evaluation Systems Test task ({tau}=0.55, p<0.001), 4-Stage Balance Test ({tau} = 0.55, p<0.001), and Short Physical Performance Battery ({tau} =0.57, p<0.001). StaBLE overcame ceiling effects in these existing scales and had a different underlying distribution for those identified at risk of falling and not (KS: 0.67, p<0.001). To reduce the time it takes to perform the test, we identified subsets of balance tasks that best predicted the StaBLE score across different populations. Together, our dataset, balance assessment protocol, and performance-based score demonstrate the validity of digital measures of balance.

bioengineering↗

bioRxiv2024

Video-based biomechanical analysis captures disease-specific movement signatures of different neuromuscular diseases

BackgroundAssessing human movement is essential for diagnosing and monitoring movement-related conditions like neuromuscular disorders. Timed function tests (TFTs) are among the most widespread assessments due to their speed and simplicity, but they cannot capture disease-specific movement patterns. Conversely, biomechanical analysis can produce sensitive disease-specific biomarkers but is traditionally confined to laboratory settings. Recent advances in smartphone video-based biomechanical analysis enable quantification of 3D movement with the ease and speed required for clinical settings. However, the potential of this technology to offer more sensitive assessments of human function than TFTs remains untested. MethodsTo compare video-based analysis against TFTs, we collected an observational dataset from 129 individuals: 28 with facioscapulohumeral muscular dystrophy, 58 with myotonic dystrophy, and 43 controls with no diagnosed neuromuscular condition. We used OpenCap, a free open-source software tool, to capture smartphone video-based biomechanics of nine different movements in a median time of 16 minutes per participant. From these recordings we extracted 34 interpretable movement features. Using these features, we evaluated the ability of video-based biomechanics to reproduce four TFTs (10-meter walk, 10-meter run, timed up-and-go, and 5-time sit-to-stand) while capturing additional disease-specific signatures of movement. ResultsVideo-based biomechanical analysis reproduced all four TFTs (r > 0.98) with similar test-retest reliability. In addition, video metrics outperformed TFTs at disease classification (p = 0.021). Unlike TFTs, video-based biomechanical analysis identified disease-specific signatures of movement such as differences in gait kinematics that are not evident in TFTs. ConclusionVideo-based biomechanical analysis can complement existing functional movement assessments by capturing more sensitive, disease-specific outcomes from human movement. This technology enables digital health solutions for assessing and monitoring motor function, complementing traditional clinical outcome measures to enhance care, management, and clinical trial design for movement-related conditions. DescriptionThis study demonstrates that smartphone video-based biomechanical analysis can accurately replicate traditional timed function tests (TFTs) -- commonly used to diagnose and assess movement-related conditions like neuromuscular disorders -- while also capturing disease-specific movement patterns that TFTs fail to detect. By enabling sensitive and interpretable assessments in clinical settings, this approach offers a scalable and objective tool to enhance diagnosis, monitoring, and clinical trial design for neuromuscular disorders.

bioengineering↗

bioRxiv2024

Personalizing a computational upper body model improves kinematic tracking in high range-of-motion arm movements

Musculoskeletal models of the shoulder are needed to understand the mechanics of overhead motions. Existing models can be scaled to represent the size of an individual person, but the kinematics are generic. We introduce a method to personalize the shoulder kinematics of a computational model of the upper body that defines the orientations of the clavicle and scapula based on glenohumeral joint angles. During five static calibration poses, we palpate and measure the orientation of the scapula. We explore the importance of representing shoulder elevation by introducing clavicle elevation as a degree of freedom that is independent of the glenohumeral angles. For ten subjects, we record the five calibration poses, ten additional static poses, and dynamic arm raises using optical motion capture. We examine the data using a dynamically-constrained inverse kinematics analysis. Personalization, independent clavicle elevation, and both in combination reduce the average upper body marker tracking error compared to the generic model in the static poses (26 mm to 17-20 mm) and in the dynamic trials (22 mm to 14-17 mm). Only personalization reduces the average scapula marker error (51 mm to 36-38 mm) and scapula axis-angle error (15{degrees} to 10{degrees}) in the static poses, and in the dynamic trials at instances that best match the static poses (53 mm to 37-40 mm, 15{degrees} to 9{degrees}). Our results show that personalizing upper body models improves kinematic tracking. We provide our experimental data, model, and methods to allow researchers to reproduce and build upon our results.

bioengineering↗

bioRxiv2022

OpenCap: 3D human movement dynamics from smartphone videos

Measures of human movement dynamics can predict outcomes like injury risk or musculoskeletal disease progression. However, these measures are rarely quantified in clinical practice due to the prohibitive cost, time, and expertise required. Here we present and validate OpenCap, an open-source platform for computing movement dynamics using videos captured from smartphones. OpenCaps web application enables users to collect synchronous videos and visualize movement data that is automatically processed in the cloud, thereby eliminating the need for specialized hardware, software, and expertise. We show that OpenCap accurately predicts dynamic measures, like muscle activations, joint loads, and joint moments, which can be used to screen for disease risk, evaluate intervention efficacy, assess between-group movement differences, and inform rehabilitation decisions. Additionally, we demonstrate OpenCaps practical utility through a 100-subject field study, where a clinician using OpenCap estimated movement dynamics 25 times faster than a laboratory-based approach at less than 1% of the cost. By democratizing access to human movement analysis, OpenCap can accelerate the incorporation of biomechanical metrics into large-scale research studies, clinical trials, and clinical practice.

bioengineering↗