Muscle MRI patterns for limb girdle muscle dystrophies: systematic review.

Autor: Alawneh I; Department of Neurology, The Hospital for Sick Children, Toronto, Canada., Stosic A; Genetics and Genome Biology Program, The Hospital for Sick Children Research Institute, Toronto, Canada., Gonorazky H; Department of Neurology, The Hospital for Sick Children, Toronto, Canada. hernan.gonorazky@sickkids.ca.
Jazyk: angličtina
Zdroj: Journal of neurology [J Neurol] 2023 Aug; Vol. 270 (8), pp. 3946-3957. Date of Electronic Publication: 2023 May 02.
DOI: 10.1007/s00415-023-11722-1
Abstrakt: Limb girdle muscle dystrophies (LGMDs) are a group of inherited neuromuscular disorders comprising more than 20 genes. There have been increasing efforts to characterize this group with Muscle MRI. However, due to the complexity and similarities, the interpretation of the MRI patterns is usually done by experts in the field. Here, we proposed a step-by-step image interpretation of Muscle MRI in LGDM by evaluating the variability of muscle pattern involvement reported in the literature. A systematic review with an open start date to November 2022 was conducted to describe all LGMDs' muscle MRI patterns. Eighty-eight studies were included in the final review. Data were found to describe muscle MRI patterns for 15 out of 17 LGMDs types. Although the diagnosis of LGMDs is challenging despite the advanced genetic testing and other diagnostic modalities, muscle MRI is shown to help in the diagnosis of LGMDs. To further increase the yield for muscle MRI in the neuromuscular field, larger cohorts of patients need to be conducted.
(© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany.)
Databáze: MEDLINE
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