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Muscle biopsy and MRI findings in ANO5-related myopathy

Sonja Holm-Yildiz1, Nanna Witting1, Josefine de Stricker Borch1

  • 1Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

Muscle & Nerve
|September 22, 2021
PubMed
Abstract

Insights

Muscle edema is common in anoctamin 5 (ANO5) myopathy patients. While some biopsies show inflammation, further research is needed to confirm if MRI findings indicate inflammation.

Area of Science:

  • Neurology
  • Genetics
  • Medical Imaging

Background:

  • Mutations in the anoctamin 5 (ANO5) gene are a known cause of muscular dystrophy.
  • ANO5 myopathy presents with varying clinical manifestations, necessitating better understanding of underlying pathology.

Purpose of the Study:

  • To investigate the presence and extent of inflammatory changes in muscles of patients with ANO5 myopathy.
  • To evaluate the utility of muscle biopsy and magnetic resonance imaging (MRI) in detecting these changes.

Main Methods:

  • Retrospective review of muscle biopsies from 24 adult patients with pathogenic ANO5 variations.
  • Prospective acquisition of muscle MR short-tau inversion recovery (STIR) images in 17 of these patients.

Main Results:

  • Muscle biopsies revealed inflammatory changes in 3 out of 24 patients.
  • MRI STIR images showed hyperintense signals (indicating edema or inflammation) in 14 out of 17 patients.

Conclusions:

  • Muscle edema is a frequent finding in ANO5 myopathy.
  • While inflammatory changes can be present in muscle biopsies, further studies are required to definitively link MRI STIR hyperintensities to inflammation in this condition.
Keywords:
ANO5LGMD2LLGMDR12anoctaminopathyinflammatory myopathy

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