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01-08-2020 | Diseases of the neuromuscular synapses and muscles | Original Communication

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

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

Published in: Journal of Neurology | Issue 8/2020

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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Title: Characteristic muscle signatures assessed by quantitative MRI in patients with Bethlem myopathy
Authors: Ruth Salim
Julia Rebecka Dahlqvist
Tahmina Khawajazada
Konni Kass
Karoline Lolk Revsbech
Josefine de Stricker Borch
Aisha Munawar Sheikh
John Vissing
Publication date: 01-08-2020
Publisher: Springer Berlin Heidelberg
Keywords: Diseases of the neuromuscular synapses and muscles
Muscular Dystrophy
Muscular Dystrophy
Myopathy
Becker Muscular Dystrophy
Published in: Journal of Neurology / Issue 8/2020
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-020-09860-x

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

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