Muscle biopsy and MRI findings in ANO5‐related myopathy

Introduction/Aims Mutations in the anoctamin 5 (ANO5) gene are a common cause of muscular dystrophy. We aimed to investigate whether inflammatory changes in muscle are present in patients with ANO5 myopathy when assessed by muscle biopsy and muscle magnetic resonance imaging (MRI). Methods Adults wi...

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Bibliographic Details
Published in:Muscle & nerve 2021-12, Vol.64 (6), p.743-748
Main Authors: Holm‐Yildiz, Sonja, Witting, Nanna, Stricker Borch, Josefine, Kass, Konni, Khawajazada, Tahmina, Krag, Thomas, Vissing, John
Format: Article
Language:English
Subjects:
Adult
ANO5
anoctaminopathy
Anoctamins - genetics
Biopsy
Dystrophy
Edema
Humans
Inflammation
inflammatory myopathy
LGMD2L
LGMDR12
Magnetic Resonance Imaging
Medical imaging
Muscle, Skeletal - diagnostic imaging
Muscle, Skeletal - pathology
Muscles
Muscular Diseases - diagnostic imaging
Muscular Diseases - genetics
Muscular Diseases - pathology
Muscular dystrophy
Mutation
Mutation - genetics
Myopathy
Retrospective Studies
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Summary:Introduction/Aims Mutations in the anoctamin 5 (ANO5) gene are a common cause of muscular dystrophy. We aimed to investigate whether inflammatory changes in muscle are present in patients with ANO5 myopathy when assessed by muscle biopsy and muscle magnetic resonance imaging (MRI). Methods Adults with pathogenic variations in ANO5 known to cause muscular dystrophy were included in our study. Muscle biopsies of pelvic and lower extremity muscles were reviewed retrospectively. Muscle MR short‐tau inversion recovery (STIR) images of a subset of these patients were obtained prospectively. Results Muscle biopsies from 24 patients were reviewed. MR STIR images were performed in 17 of these patients. We found inflammatory changes in muscle biopsies of three patients and MRI revealed hyperintense signals on STIR images in 14 of 17 patients. Discussion In this study, we found that muscle edema is very common in patients with ANO5 myopathy and that some patients have inflammatory changes in muscle biopsies. Further studies are needed to determine whether the STIR+ lesions reflect inflammation.
ISSN:0148-639X
1097-4598
DOI:10.1002/mus.27419