Skeletal muscle symptoms and quantitative MRI in females with dystrophinopathy.

ABSTRACT:

Introduction/aims

The dystrophinopathies primarily affect males; however, female carriers of pathogenic dystrophin variants can develop skeletal muscle symptoms. This study aimed to evaluate muscle involvement and symptoms in females with dystrophinopathy using quantitative magnetic resonance imaging (MRI), functional assessments, and patient-reported outcomes.

Methods

Controls and females with dystrophinopathy with muscle symptoms of pain, weakness, fatigue, or excessive tightness were enrolled in this cross-sectional study. Participants underwent lower extremity MRI to quantify muscle inflammation, replacement by fat, and disease asymmetry. Cardiac MRI, functional ability, muscle symptoms, and serum creatine kinase levels were also evaluated.

Results

Six pediatric f

SUBMITTER: Jenkins BM 

PROVIDER: S-EPMC11493146 | biostudies-literature | 2024 Nov

REPOSITORIES: biostudies-literature