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Modeling of Dysferlinopathy (LGMDR2) Progression: A Longitudinal Fat Fraction Analysis
Carla Florencia Bolano-Diaz1, Harmen Reyngoudt2, Ian J Wilson3
1The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle Upon Tyne, United Kingdom.
Neurology. Genetics
|July 31, 2025
Summary
Limb-girdle muscular dystrophy R2 (LGMDR2) progression varies, influenced by age at onset and sex, not genetics. Models show overall trends but not individual patient changes, needing further research.
Area of Science:
- Neurology
- Musculoskeletal Diseases
- Medical Imaging
Background:
- Limb-girdle muscular dystrophy R2 (LGMDR2) causes progressive muscle weakness with variable severity.
- Understanding factors influencing LGMDR2 progression is crucial for clinical trial design.
Purpose of the Study:
- To develop statistical models for fat fraction (FF) progression in LGMDR2 lower limbs.
- To identify clinical and radiologic factors influencing LGMDR2 disease progression.
Main Methods:
- Linear-mixed modeling analyzed FF changes over time in LGMDR2 patients.
- Multivariate models incorporated clinical factors to assess FF progression predictors.
- Skeletal muscle MRI assessed fat fraction (FF) in lower limbs.
Main Results:
- Age at symptom onset and sex significantly influenced FF progression; women showed higher FF.
- Muscles involved in similar joint movements exhibited parallel FF progression.
- Genetic variants and residual dysferlin expression did not affect FF trajectory.
Conclusions:
- Age at onset, sex, and baseline motor function are key factors in LGMDR2 progression.
- Current models improve overall data fit but not individual patient variability prediction.
- Further research is needed to identify additional factors influencing LGMDR2 progression.
