Please use this identifier to cite or link to this item:
http://dx.doi.org/10.25673/38246
Title: | Whole-body muscle MRI of patients with MATR3-associated distal myopathy reveals a distinct pattern of muscular involvement and highlights the value of whole-body examination |
Author(s): | Mensch, Alexander Kraya, Torsten Koester, Felicitas Müller, Tobias Stoevesandt, Dietrich Zierz, Stephan |
Issue Date: | 2020 |
Type: | Article |
Language: | English |
Abstract: | Objective: MATR3-associated distal myopathy is a rare distal myopathy predominantly affecting lower legs as well as wrist- and finger extensors. Whilst most distal myopathies are clinically and genetically well characterized, diagnosis often remains challenging. Pattern-based magnetic resonance imaging (MRI) approaches offer valuable additional information. However, a consistent pattern of muscular affection is missing for most distal myopathies. Thus, the aim of the present study was to establish a disease-specific pattern of muscular involvement in MATR3-associated distal myopathy using whole-body MRI. Methods: 15 patients (25–79 years of age, 7 female) with MATR3-associated distal myopathy were subjected to whole-body MRI. The grade of fatty involution for individual muscles was determined using Fischer-Grading. Results were compared to established MRI-patterns of other distal myopathies. Results: There was a predominant affection of the distal lower extremities. Lower legs showed a severe fatty infiltration, prominently affecting gastrocnemius and soleus muscle. In thighs, a preferential involvement of semimembranous and biceps femoris muscle was observed. Severe affection of gluteus minimus muscle as well as axial musculature, mainly affecting the thoracic segments, was seen. A sufficient discrimination to other forms of distal myopathy based solely on MRI-findings of the lower extremities was not possible. However, the inclusion of additional body parts seemed to yield specificity. Interpretation: Muscle MRI of patients with MATR3-associated distal myopathy revealed a distinct pattern of muscular involvement. The usage of whole-body muscle MRI provided valuable additional findings as compared to regular MRI of the lower extremities to improve distinction from other disease entities. |
URI: | https://opendata.uni-halle.de//handle/1981185920/38489 http://dx.doi.org/10.25673/38246 |
Open Access: | Open access publication |
License: | (CC BY 4.0) Creative Commons Attribution 4.0 |
Sponsor/Funder: | Publikationsfond MLU |
Journal Title: | Journal of neurology |
Publisher: | Steinkopff |
Publisher Place: | [Darmstadt] |
Volume: | 267 |
Original Publication: | 10.1007/s00415-020-09862-9 |
Page Start: | 2408 |
Page End: | 2420 |
Appears in Collections: | Open Access Publikationen der MLU |
Files in This Item:
File | Description | Size | Format | |
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Mensch2020_Article_Whole-bodyMuscleMRIOfPatientsW.pdf | 4.93 MB | Adobe PDF | View/Open |