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September 8, 2026Journal of Neurology Neurosurgery & Psychiatry

Whole-body quantitative muscle MRI in myotonic dystrophy type 2: a sensitive tool for pattern recognition, disease stratification and objective assessment of clinical severity

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Authors

AMAlexander MenschMHMaurits Gerhardt Abraham HeuschenLBLorenzo Barba

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Overview

Prospective study demonstrates that quantitative muscle MRI reflects clinical severity in myotonic dystrophy type 2, highlighting its utility as an objective biomarker.

Key Points

  • To characterize whole-body muscle involvement using semiquantitative and quantitative MRI in myotonic dystrophy type 2 and determine its relationship with clinical disease severity.
  • Enrolled 27 genetically confirmed patients with myotonic dystrophy type 2 and 26 age- and sex-matched healthy controls in a prospective study.
  • Performed whole-body MRI to evaluate semiquantitative muscle involvement via Fischer grading alongside quantitative MRI parameters, including fat fraction, T2 mapping, and diffusion tensor imaging.
  • Correlated imaging measures with functional endpoints, including the 6-minute walk test, Medical Research Council sum score, hip flexion strength, pulmonary function, and CCTG repeat length.
  • Patients with myotonic dystrophy type 2 showed significantly greater muscle degeneration than controls, primarily localized to proximal muscle groups.
  • Semiquantitative whole-body MRI scores strongly correlated with Medical Research Council sum scores, 6-minute walk test performance, and CCTG repeat length.
  • Quantitative MRI demonstrated elevated fat fraction and T2 values that aligned with functional impairment, with a targeted subset of severely affected muscles reliably reflecting total disease burden.

Cite This Study

Mensch et al. (2026) studied this question.

synapsesocial.com/papers/6a9fd7b758e84d0ff5b46aa8https://doi.org/10.1136/jnnp-2026-338732
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