Why the study?
Inherited and acquired immuno-mediated myopathies can present with non-specific clinical pictures due to phenotypic overlap, complicating accurate etiological orientation.
Does whole-body muscle MRI aid in the diagnosis and etiological orientation of inherited and acquired myopathies?
Does whole-body muscle MRI aid in the diagnosis and etiological orientation of inherited and acquired myopathies?
Whole-body muscle MRI is an increasingly important tool for the diagnostic workup of inherited and acquired myopathies.
Whole-body muscle MRI may aid etiological orientation in myopathies; leaves open prospective validation before clinical adoption.
Inherited myopathies are a group of disease, which, although distinct from a genetic and prognostic point of view, can lead to non-specific clinical pictures due to phenotypic overlap. Acquired immuno-mediated myopathies may also pose the problem of clinically accurate etiological orientation. The assessment of fatty infiltration and pathological increase in water volume of the muscle contingent on whole-body muscle MRI is becoming increasingly important in aiding the initial diagnosis of inherited and acquired myopathies. MRI helps orientating the clinical diagnostic hypotheses thanks to the patterns of muscle involved (more or less specific according to the entities), which led to the development of decision-making algorithms proposed in the literature. The aim of this article is to specify the proper MRI protocol for the evaluation of myopathies and the basis of the interpretation and to provide a summary of the most frequently inherited and acquired myopathies described in the literature.
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Venturelli et al. (2022) studied this question.
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