Quantitative MRI of muscles allows to measure disease progression or to assess therapeutic effects in neuromuscular diseases. We executed two studies on patients with spinal muscular atrophy, treated and untreated, with a protocol consisting of DIXON, T2 mapping and DTI on a 3T MR scanner. In treatment-naïve adult patients we demonstrated that qMRI was able to measure subclinical disease progression. In young children with SMA, quantitative MR parameters of the DIXON and DTI sequence showed ongoing fatty infiltration and normalization of thigh muscle microstructure during the first year of nusinersen treatment.
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