Whole‐Body MRI in Limb Girdle Muscular Dystrophy Type R1/2A: Correlation With Clinical Scores

Introduction/Aim The most common limb girdle muscular dystrophy (LGMD) worldwide is LGMD type R1 (LGMDR1). The aim of this study was to correlate the MRI findings with functional scores and to describe the whole‐body MRI (WBMRI) pattern in a LGMDR1 Brazilian cohort. Methods LGMDR1 patients under follow‐up in three centers were referred for the study. Clinical data were collected and a functional evaluation was performed, consisting of Gardner‐Medwin and Walton (GMW) and Brooke scales. All patients underwent a WBMRI study (1.5T) with axial T1 and STIR images. Fifty‐one muscles were semiquantitatively assessed regarding fatty infiltration and muscle edema. Results The study group consisted of 18 patients. The highest fatty infiltration scores involved the serratus anterior, biceps femoris long head, adductor magnus, and lumbar erector spinae. There was a latero‐medial and caudo‐cranial descending gradient of involvement of the paravertebral muscles, with erector spinae being significantly more affected than the transversospinalis muscles (p