Natural history of facioscapulohumeral muscular dystrophy evaluated by multiparametric quantitative MRI: a prospective cohort study.

ABSTRACT:

Background

Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder characterized by progressive skeletal muscle wasting. Longitudinal muscle magnetic resonance imaging (MRI) studies demonstrated that the risk of developing irreversible fatty replacement is higher in muscles showing edematous lesions. The quantification of this phenomenon is an understudied topic in FSHD and intramuscular water content can also represent a potential biomarker sensitive to the effect of investigational drugs. We applied a multiparametric quantitative muscle MRI protocol to assess disease progression quantifying fatty replacement and muscle edema over 2 years, using fat fraction (FF) and water-T2 (wT2) metrics.

Methods

Thirty FSHD patients with at least one muscle showing signs of e

SUBMITTER: Paoletti M 

PROVIDER: S-EPMC11965262 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature