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

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 a patient's 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 participants' ratings of their own functional abilities (ρ= -0.81, p<0.001) and existing clinical tests of movement capabilities such as run speed (ρ= -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.