Abstract
Magnetic resonance imaging (MRI) and spectroscopy (MRS) show promise as unbiased non-invasive measures of disease progression in neuromuscular diseases. The ImagingDMD study is a longitudinal study that aims to validate the use of MRI and MRS at multiple sites in a large cohort of boys with Duchenne muscular dystrophy (DMD). To date, 121 boys with DMD, aged 5–14 years, and 24 unaffected boys have completed baseline measures for this study. All boys could walk and climb stairs at the time of enrollment. The boys completed an MR exam that included MRI measures of muscle transverse relaxation time (MRI T2) and MRS measures of muscle composition (lipid: (lipid + water)) and the T2 of the water component of muscle (MRS T2). MRS T2 and MRI T2 are elevated by muscle damage, edema, and inflammation, and MRI T2 is also affected by intramuscular fat. Boys with DMD had greater MRI T2 (soleus (Sol): DMD 42.9 ± 5.4 ms, Con 33.6 ± 1.6 ms, vastus lateralis (VL): DMD 49.0 ± 9.8 ms, Con 34.2 ± 2.2 ms), MRS T2 (Sol: DMD 31.7 ± 2.3 ms, Con 28.2 ± 0.6 ms, VL: DMD 31.6 ± 2.4 ms, 29.0 ± 0.8 ms), and lipid: (lipid + water) (Sol: DMD 0.37 ± 0.16, Con 0.22 ± 0.08, VL: DMD 0.48 ± 0.25, Con 0.20 ± 0.07) than unaffected boys (p
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