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 fol...

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Published in:	Muscle & nerve Vol. 66; no. 4; pp. 471 - 478
Main Authors:	Aivazoglou, Laís U., Guimarães, Julio B., Costa, Maria Alice F., Aihara, André Yui, Cardoso, Fabiano N., Pinto, Wladimir B. V. De R., Souza, Paulo Victor S., Silva, André M. S., Zanoteli, Edmar, Oliveira, Acary S. B., Carvalho, Alzira A. S., Fernandes, Artur Da R. C.
Format:	Journal Article
Language:	English
Published:	Hoboken, USA John Wiley & Sons, Inc 01-10-2022 Wiley Subscription Services, Inc
Subjects:	CAPN3 Clinical trials Dystrophy Edema Evaluation Functional magnetic resonance imaging Infiltration LGMD limb‐girdle muscular dystrophy Magnetic resonance imaging MRI muscle dystrophy Muscles Muscular dystrophy Patients
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Summary:	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 < 0.05). A striped appearance that has been dubbed the “pseudocollagen sign” was present in 72% of the patients. There was a positive correlation between the MRI score and GMW (Rho:0.83) and Brooke (Rho:0.53) scores. Discussion WBMRI in LGMDR1 allows a global patient evaluation including involvement of the paraspinal muscles, usually an underestimated feature in the clinical and imaging study of myopathies. Knowledge of the WBMRI pattern of LGMDR1 involvement can be useful in the diagnostic approach and in future studies to identify the best target muscles to serve as outcome measures in clinical trials.
Bibliography:	Funding information Coordenação de Aperfeiçoamento de Pessoal de Nível Superior ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0148-639X 1097-4598
DOI:	10.1002/mus.27686