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Characteristic muscle signatures assessed by quantitative MRI in patients with Bethlem myopathy

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Abstract

Using MRI, the main aim was to (1) map the pattern of muscle involvement by assessing fat fraction and (2) investigate frequency of target and sandwich signs in 42 muscles of patients with Bethlem myopathy (BM). Fifteen BM patients were included. Results were compared to findings in 8 healthy controls and 50 patients with four other types of muscular dystrophies. All muscles, except one, showed higher fat fraction in BM patients vs healthy controls (p < 0.05) with an overall proximal muscle affection, resembling a limb girdle-like pattern. In moderate patients, the specificity was 90% for the sandwich sign and 98% for the target sign. Sensitivity for both signs was 100%. Twelve BM patients had sandwich sign in other muscles than the vastus lateralis. Muscle strength correlated with fat fraction. Mean fat fraction in the psoas major was 39% in BM patients, which was considerably higher than in 3 of the 4 muscular dystrophy control diseases. The presence of signs in conjunction with severe affection of the psoas major muscle can serve as a diagnostic tool in BM. The high level of STIR lesions in muscles of BM patients warrants further investigations.

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Availability of data and material

The data that support the findings of this study are available from the corresponding author, R Salim, upon reasonable request.

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Acknowledgements

The authors thank Christian Hammer Nielsen, radiologist, Department of Diagnostic Radiology, Rigshospitalet, for his helpful advice and supervision during the first MRI sessions.

Funding

This work was supported by A.P. Møller Fonden, Copenhagen, Denmark.

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Authors and Affiliations

  1. Copenhagen Neuromuscular Center, Section 3342, Department of Neurology, University of Copenhagen, Rigshospitalet, Blegdamsvej 9, 2100, Copenhagen, Denmark

    Ruth Salim, Julia Rebecka Dahlqvist, Tahmina Khawajazada, Konni Kass, Karoline Lolk Revsbech, Josefine de Stricker Borch, Aisha Munawar Sheikh & John Vissing

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  1. Ruth Salim
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  2. Julia Rebecka Dahlqvist
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  3. Tahmina Khawajazada
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  6. Josefine de Stricker Borch
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  7. Aisha Munawar Sheikh
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Correspondence to Ruth Salim.

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On behalf of all authors, the corresponding author states that there is no conflict of interest.

Ethics approval

The study was approved by the Danish National Committee on Health Research. Ethics (approval number H-18023049) and the Danish Data Protection agency and registered at https://www.clinicaltrials.gov (NCT03693898).

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All participants gave their informed consent prior to their inclusion in the study.

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Salim, R., Dahlqvist, J.R., Khawajazada, T. et al. Characteristic muscle signatures assessed by quantitative MRI in patients with Bethlem myopathy. J Neurol 267, 2432–2442 (2020). https://doi.org/10.1007/s00415-020-09860-x

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  • DOI: https://doi.org/10.1007/s00415-020-09860-x

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