Multi-parametric quantitative MRI of the lower limb muscles in a longitudinal study of limb-girdle muscular dystrophy R9.

ABSTRACT:

Background and objectives

Limb-girdle muscular dystrophy R9 (LGMD-R9) is a rare neuromuscular disease with no curative treatment. Sensitive non-invasive biomarkers are necessary to monitor disease progression and evaluate the efficacy of novel therapies. Here, we investigated several quantitative MRI parameters as suitable biomarkers for evaluating disease progression in LGMD-R9.

Methods

Bilateral quantitative MRI of the lower limbs was performed in individuals with LGMD-R9 and healthy controls. Quantitative thigh and leg muscle MRI, functional tests (including time-up-and-go (TUG) and time-to-climb-4-stairs (4S climb)), and muscle strength tests were performed in individuals with LGMD-R9 at baseline, 1-year, and 2-years. qMRI included assessment of muscle fat fraction (FF),

SUBMITTER: Rauh SS 

PROVIDER: S-EPMC12036925 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature