MRI change metrics of facioscapulohumeral muscular dystrophy: Stir and T1

Introduction: MRI evaluation in facioscapulohumeral muscular dystrophy (FSHD) demonstrates fatty replacement and inflammation/edema in muscle. Our previous work demonstrated short T1 inversion recovery (STIR)-hyperintense (STIR+) signal in muscle 2 years before fatty replacement. We evaluated leg muscle STIR changes and fatty replacement within 14 months. Methods: FSHD subjects received 2 MRI scans of thigh and calf over a 6.9- to 13.8-month interval. Quality of life measures were collected. One Radiologist rated muscle changes on a semi-quantitative scale. Results: Fifteen subjects completed longitudinal imaging. Four STIR + muscles and 3 STIR-normal (STIR−) muscles were rated as progressing to fatty tissue over the study period. Discussion: STIR + muscles with confluent regions of fat at baseline increased more in fat, while STIR− muscles had increases in septal-fat over the study period. These changes may reflect two phases of FSHD, demonstrating MRI sensitivity is weighted toward gross pathological phases of the disease. Muscle Nerve 57: 905–912, 2018.