Utilization of Multi‐Parametric Quantitative Magnetic Resonance Imaging in the Early Diagnosis of Duchenne Muscular Dystrophy

Background It is challenging to diagnose suspected Duchenne muscular dystrophy (DMD) patients in the very early stage of the disease. More evidence is needed to demonstrate the potential of quantitative MRI (qMRI) in precisely identifying patients before substantial physical decline occurs. Purpose To assess the early diagnostic performance of multi‐parametric qMRI for DMD patients, and the ability to identify DMD patients with mild functional decline. Study Type Prospective. Subjects One hundred and forty DMD subjects (9.0 ± 2.2 years old), 24 male healthy controls (HCs) (9.2 ± 2.5 years old). Field Strength/Sequence 3.0 T/3‐point Dixon, T1‐mapping, and T2‐mapping. Assessment qMRI measurements (fat fraction [FF], T1, and T2) of 11 thigh muscles (rectus femoris [RF], vastus lateralis [VL], vastus intermedius, vastus medialis, gracilis, sartorius, adductor longus, adductor magnus [AM], semitendinosus, semimembranosus, biceps femoris long head [BFLH]) on the right side were conducted. NorthStar ambulatory assessment (NSAA) score used to evaluate the function of DMD patients and divided them into three subgroups: mild (76–100 score), moderate (51–75 score), and severe (0–50 score) functional decline. Statistical Tests Independent t ‐test, ANOVA analysis, and receiver operating characteristic (ROC) curves. A P ‐value <0.05 was considered statistically significant. Results Compared with HCs, FF and T2 were significantly higher in the group of all DMD patients, while T1 was significantly lower. The combination of T1 and T2 in RF, VL, AM, and BFLH achieved excellent area under curve (AUCs) (0.967–0.992) in differentiating five DMD patients without abnormal fat infiltration from HCs. Overall, T2 reached higher AUCs than FF and T1 in distinguishing DMD with mild functional decline from HCs, whereas FF achieved higher AUCs than T1 and T2 in distinguishing three DMD subgroups with functional decline. Data Conclusion Multi‐parametric qMRI demonstrate effective diagnostic capabilities for DMD patients in the early stage of the disease, and can identify patients with mild physical decline. Level of Evidence 2 Technical Efficacy Stage 3