Abstract

IntroductionDuchenne muscular dystrophy (DMD) is an X-linked recessive disorder that results in functional deficits. However, these functional declines are often not able to be quantified in clinical trials for DMD until after age 7. In this study, we hypothesized that 1H2O T2 derived using 1H-MRS and MRI-T2 will be sensitive to muscle involvement at a young age (5–7 years) consistent with increased inflammation and muscle damage in a large cohort of DMD subjects compared to controls.MethodsMR data were acquired from 123 boys with DMD (ages 5–14 years; mean 8.6 SD 2.2 years) and 31 healthy controls (age 9.7 SD 2.3 years) using 3-Tesla MRI instruments at three institutions (University of Florida, Oregon Health & Science University, and Children’s Hospital of Philadelphia). T2-weighted multi-slice spin echo (SE) axial images and single voxel 1H-MRS were acquired from the lower leg and thigh to measure lipid fraction and 1H2O T2.ResultsMRI-T2, 1H2O T2, and lipid fraction were greater (p<0.05) in DMD compared to controls. In the youngest age group, DMD values were different (p<0.05) than controls for the soleus MRI-T2, 1H2O T2 and lipid fraction and vastus lateralis MRI-T2 and 1H2O T2. In the boys with DMD, MRI-T2 and lipid fraction were greater (p<0.05) in the oldest age group (11–14 years) than the youngest age group (5–6.9 years), while 1H2O T2 was lower in the oldest age group compared to the young age group.DiscussionOverall, MR measures of T2 and lipid fraction revealed differences between DMD and Controls. Furthermore, MRI-T2 was greater in the older age group compared to the young age group, which was associated with higher lipid fractions. Overall, MR measures of T2 and lipid fraction show excellent sensitivity to DMD disease pathologies and potential therapeutic interventions in DMD, even in the younger boys.

Highlights

  • Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder that results in functional deficits

  • In the Sol, Magnetic resonance imaging (MRI)-T2, 1H2O T2, and lipid fraction were greater (p,0.05) in DMD compared to controls in each age group (5–6.9, 7–8.9, 9– 10.9, 11–14 years; Fig. 2; Table 2)

  • In the vastus lateralis (VL), MRI-T2, and 1H2O T2 were greater (p,0.05) in DMD compared to controls in every age group and lipid fraction was greater in DMD than controls in the 7–8.9, 9–10.9, and 11–14 year age groups (Fig. 2)

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Summary

Introduction

Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder that results in functional deficits. These functional declines are often not able to be quantified in clinical trials for DMD until after age 7. Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by mutations in the dystrophin gene [1]. There is no cure for DMD, there are a number of therapeutic interventions that have shown promise in preclinical and early clinical trials, including viral delivery of microdystrophin genes [5], exon skipping [6], and small molecule therapies, such as ataluren [7].

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