MRI-based Deep Radiomic Phenotyping of Neuromuscular Disorders: A Topology-driven Characterization

Martyna Żur; Łukasz Piórecki; Marek Socha; Jose Verdu Diaz; Ana Topf; Michael Obach; Marco Savarese; Jocelyn Laporte; Benedikt Schoeser; Filippo Santorelli; Jordi Diaz-Manera; Volker Straub; Rossella Tupler; Joanna Polańska

arXiv · 2608.24415

MRI-based Deep Radiomic Phenotyping of Neuromuscular Disorders: A Topology-driven Characterization

Martyna Żur·Łukasz Piórecki·Marek Socha·Jose Verdu Diaz·Ana Topf·Michael Obach·Marco Savarese·Jocelyn Laporte·Benedikt Schoeser·Filippo Santorelli·Jordi Diaz-Manera·Volker Straub·Rossella Tupler·Joanna Polańska

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Abstract

Quantitative assessment of muscle MRI is crucial for monitoring neuromuscular disorders (NMD). This study introduces an automated radiomic phenotyping framework based on original features engineered across five main architectural domains: quantitative morphometry, spatial distribution, geometric shape, interactions between progressive fat replacement stages, and graph-based topology. Utilizing 1184 MRI scans from the CoMPaSS-NMD project, we map the complex 3D architecture of heterogeneous intramuscular lipodegeneration into objective, morphologically interpretable biomarkers. We introduce a graph-based skeletonization of fat infiltrates to quantify muscle architectural changes, establishing a multi-dimensional extension of traditional, spatially-agnostic volume metrics by mapping topological networks across the entire 3D muscle volume. Statistical screening via non-parametric Kruskal-Wallis analysis confirmed the discriminative power of these novel descriptors across the genetic hierarchy. Notably, topological network metrics (e.g., SF1_Skel_Nodes, $ε^2$ = 0.2656) and interface dynamics metrics (e.g., SF2_To_SF1_Dist_Min, $ε^2$ = 0.2092) demonstrated substantial effect sizes, providing deeper structural insights than classical volumetric assessments. Post-hoc pairwise evaluations and UMAP projections further indicated the capability of these topological and 3D geometric invariants to capture disease-specific macroscopic infiltration patterns. These results demonstrate that global architectural features represent a highly promising class of biomarkers for differential diagnosis, offering new avenues for tracking longitudinal disease dynamics in neuromuscular diagnostics. The developed automated feature extraction pipeline is integrated and available within the MUSCAT (MUSCle fAt Topology) library.

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Martyna Żur, Łukasz Piórecki, Marek Socha, Jose Verdu Diaz, Ana Topf, Michael Obach, Marco Savarese, Jocelyn Laporte, Benedikt Schoeser, Filippo Santorelli, Jordi Diaz-Manera, Volker Straub, Rossella Tupler, Joanna Polańska. 2026-09-13. MRI-based Deep Radiomic Phenotyping of Neuromuscular Disorders: A Topology-driven Characterization. https://arxiv.org/abs/2608.24415

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