What does this research mean for the field?

Quantitative multi-parametric MRI reveals significantly increased fat fractions, elevated tissue sodium, and reduced tissue potassium in the muscles of myofibrillar myopathy patients compared to healthy controls. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

This pilot study aims to assess muscle pathology in myofibrillar myopathies via advanced MRI techniques.

March 21, 2026Journal of Cachexia Sarcopenia and MuscleOpen Access

Multi‐Parametric MRI Approach at 3 T and 7 T for Assessing Skeletal Muscle Pathology in Myofibrillar Myopathies: A Pilot Study

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Key result

Quantitative MRI links myofibrillar myopathy to increased fat, lower potassium, and ~140% higher tissue sodium.

Why the study?

Myofibrillar myopathies are clinically and genetically heterogeneous protein aggregate diseases, and it was unknown whether a novel quantitative MRI protocol could reveal new structural and biochemical muscle pathology in classic subtypes.

Does multi-parametric MRI at 3 T and 7 T reveal structural and biochemical muscle pathology in patients with myofibrillar myopathies compared to healthy controls?

Population

9 MFM patients, 1 patient with non-MFM distal myopathy, and 10 age-matched healthy controls

Comparison

Myopathy patients vs age-matched healthy controls

Design

Pilot case-control study

Authors

CMClaudius MathyUniversity of Bonn LGLena V. GastFriedrich-Alexander-Universität Erlangen-Nürnberg CHChristian HoltzhausenFriedrich-Alexander-Universität Erlangen-Nürnberg

Discussion

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Implication

Supports multi-parametric MRI to quantify muscle pathology in MFM; extends biomarkers for trials but should not yet change practice.

Key Points

This pilot study aims to assess muscle pathology in myofibrillar myopathies via advanced MRI techniques.
Conducted MRI of the lower legs in nine patients with genetic mutations related to myofibrillar myopathy.
Employed 1H MRI at 3T to measure fatty replacement and edema in muscle tissues.
Utilized 39K/23Na MRI at 7T to analyze tissue potassium and sodium concentrations.
Significant fatty replacement found in soleus and gastrocnemius medialis muscles of all patients.
Muscular proton density fat fraction (PDFF) values were significantly increased in all MFM patients.
Fat-corrected sodium concentrations were significantly higher in MFM patients compared to healthy controls.

Structured PICO

Does multi-parametric MRI at 3 T and 7 T reveal structural and biochemical muscle pathology in patients with myofibrillar myopathies compared to healthy controls?

Population

10 myopathy patients (9 with myofibrillar myopathies, 1 with non-MFM filamin-C related distal myopathy; 4 males, 6 females, mean age 51.0 ± 7.7 years) and 10 age-matched healthy controls

Intervention

Multi-parametric MRI at 3 T (1H MRI) and 7 T (39K/23Na MRI)

Comparator

Healthy control subjects

Outcome

Quantitative measurements of proton density fat fraction (PDFF), water T2 relaxation times, apparent tissue potassium (aTPC), and tissue sodium concentrations (aTSC)surrogate

Multi-parametric MRI at 3T and 7T can objectively quantify fat, edema-like changes, and potassium/sodium ion imbalances in the skeletal muscles of patients with myofibrillar myopathies.

Cite This Study

Mathy et al. (2026) studied this question. Quantitative MRI in myofibrillar myopathy patients revealed significantly increased fat fractions, elevated tissue sodium (55.6 vs 23.2 mM), and reduced potassium (75.4 vs 108.9 mM) versus controls.

synapsesocial.com/papers/69be38596e48c4981c678b62 https://doi.org/10.1002/jcsm.70245

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Multi‐Parametric MRI Approach at 3 T and 7 T for Assessing Skeletal Muscle Pathology in Myofibrillar Myopathies: A Pilot Study

Discussion

Member takes

Implication

Key Points

Structured PICO

Cite This Study

Multi‐Parametric MRI Approach at 3 T and 7 T for Assessing Skeletal Muscle Pathology in Myofibrillar Myopathies: A Pilot Study

Discussion

Member takes

Implication

Key Points

Structured PICO

Cite This Study

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