Abstract：Objective To summarize the skeletal muscle magnetic resonance imaging (MRI) features of the lower limbs in common subtypes of muscular dystrophy (MD) and the experience in the application of MRI in the diagnosis of MD. Methods A total of 48 children with MD who were diagnosed by genetic testing were enrolled as subjects. The muscle MRI features of the lower limbs were analyzed. Cumulative fatty infiltration score was calculated for each subtype, and the correlation of cumulative fatty infiltration score with clinical indices was analyzed for Duchenne muscular dystrophy (DMD). Results DMD was characterized by the involvement of the gluteus maximus and the adductor magnus. Becker muscular dystrophy was characterized by the involvement of the vastus lateralis muscle. Limb-girdle muscular dystrophy was characterized by the involvement of the adductor magnus, the vastus intermedius, the vastus medialis, and the vastus lateralis muscle. For DMD, the cumulative fatty infiltration score of the lower limb muscles was significantly correlated with age, course of the disease, muscle strength, and motor function (P<0.05), while it was not significantly correlated with the serum creatine kinase level (P>0.05). Conclusions Different subtypes of MD have different MRI manifestations, and MRI may help with the diagnosis and assessment of MD.
Day JA, Bajic N, Gentili S, et al. Radiographic patterns of muscle involvement in the idiopathic inflammatory myopathies[J]. Muscle Nerve, 2019, 60(5): 549-557. PMID: 31397909. DOI: 10.1002/mus.26660.
Yin L, Xie ZY, Xu HY, et al. T2 mapping and fat quantification of thigh muscles in children with Duchenne muscular dystrophy[J]. Curr Med Sci, 2019, 39(1): 138-145. PMID: 30868504. DOI: 10.1007/s11596-019-2012-8.
Brooke MH, Griggs RC, Mendell JR, et al. Clinical trial in Duchenne dystrophy. I. The design of the protocol[J]. Muscle Nerve, 1981, 4(3): 186-197. PMID: 7017401. DOI: 10.1002/mus.880040304.
Florence JM, Pandya S, King WM, et al. Intrarater reliability of manual muscle test (Medical Research Council Scale) grades in Duchenne's muscular dystrophy[J]. Phys Ther, 1992, 72(2): 115-122. PMID: 1549632. DOI: 10.1093/ptj/72.2.115.
Bushby K, Finkel R, Birnkrant DJ, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management[J]. Lancet Neurol, 2010, 9(1): 77-93. PMID: 19945913. DOI: 10.1016/S1474-4422(09)70271-6.
Monaco AP, Bertelson CJ, Liechti-Gallati S, et al. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus[J]. Genomics, 1988, 2(1): 90-95. PMID: 3384440. DOI: 10.1016/0888-7543(88)90113-9.
Kim HK, Laor T, Horn PS, et al. T2 mapping in Duchenne muscular dystrophy: distribution of disease activity and correlation with clinical assessments[J]. Radiology, 2010, 255(3): 899-908. PMID: 20501727. DOI: 10.1148/radiol.10091547.
Schmidt S, Hafner P, Klein A, et al. Timed function tests, motor function measure, and quantitative thigh muscle MRI in ambulant children with Duchenne muscular dystrophy: a cross-sectional analysis[J]. Neuromuscul Disord, 2018, 28(1): 16-23. PMID: 29174526. DOI: 10.1016/j.nmd.2017.10.003.
Peng F, Xu H, Song Y, et al. Utilization of T1-mapping for the pelvic and thigh muscles in Duchenne muscular dystrophy: a quantitative biomarker for disease involvement and correlation with clinical assessments[J]. BMC Musculoskelet Disord, 2022, 23(1): 681. PMID: 35842609. PMCID: PMC9288085. DOI: 10.1186/s12891-022-05640-y.
