Whole body muscle MRI protocol: pattern recognition in early onset NM disorders

Abstract

A paediatric and adult whole-body MRI (WB-MRI) protocol using a 1.5-T MRI system was used to examine 117 individuals (106 patients, 11 asymptomatic relatives). Genetic diagnosis was obtained in 38 subjects (RYR1, LMNA, COL6, DNM2, GAA, TPM2, SGCA, MYH7, NEB, SMN, FKBP14). T1-TSE WB-MRI sequences were abnormal in 67% of patients and 27% of asymptomatic relatives. Multiple striped signal abnormalities ('tiger-like') were very specific for COLVI-related myopathy. Distinct involvement of muscles in the head, neck, trunk, girdles and limbs was observed in patients with RYR1, SEPN1, GAA, LMNA or TPM2 mutations. Abnormalities and pattern recognition were more frequent in patients studied due to rigid spine syndrome (80% abnormal, recognisable in 75% of cases), hyperlaxity syndrome (75%; 50%) or with confirmed myopathy but absence of these markers (71%; 40%). Pattern was consistent with the molecular diagnosis in 97%. Mild clinical involvement was revealed by muscle testing in three parents with abnormal WB-MRI. The Garches WB-MRI protocol is suitable for a large spectrum of adults and children with early-onset neuromuscular disorders and can be used as an effective screening test in relatives. Recognition of characteristic patterns of abnormalities is improved by whole-body scanning compared with sequential MRI and, therefore, diagnostic impact is greater.