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Lookup NU author(s): Professor Giorgio TascaORCiD, Professor Chiara Marini Bettolo, Dr Ana TopfORCiD, Professor Michela GuglieriORCiD, Professor Volker StraubORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2023. Distal motor neuropathies (dHMN) are an heterogenous group of diseases characterized by progressive muscle weakness affecting predominantly the distal muscles of the lower and upper limbs. Our aim was to study the imaging features and pattern of muscle involvement in muscle magnetic resonance imaging (MRI) in dHMN patients of suspected genetic origin (dHMN). We conducted a retrospective study collecting clinical, genetic and muscle imaging data. Muscle MRI included T1-weighted and T2 weighted Short Tau Inversion Recovery images (STIR-T2w) sequences. Muscle replacement by fat was quantified using the Mercuri score. Identification of selective patterns of involvement was performed using hierarchical clustering. Eighty-four patients with diagnosis of dHMN were studied. Fat replacement was predominant in the distal lower leg muscles (82/84 cases), although also affected thigh and pelvis muscles. Asymmetric involvement was present in 29% of patients. The superficial posterior compartment of the leg, including the soleus and gastrocnemius muscles, was the most affected area (77/84). We observed a reticular pattern of fatty replacement progressing towards what is commonly known as “muscle islands” in 79.8%. Hyperintensities in STIR-T2w were observed in 78.6% patients mainly in distal leg muscles. Besides features common to all individuals, we identified and describe a pattern of muscle fat replacement characteristic of BICD2, HSPB1 and DYNC1H1 patients. We conclude that muscle MRI of patients with suspected dHMN reveals common features helpful in diagnosis process.
Author(s): Esteller D, Morrow J, Alonso-Perez J, Reyes D, Carbayo A, Bisogni G, Cateruccia M, Monforte M, Tasca G, Alangary A, Marini-Bettolo C, Sabatelli M, Laura M, Ramdharry G, Bolano-Diaz C, Turon-Sans J, Topf A, Guglieri M, Rossor AM, Olive M, Bertini E, Straub V, Reilly MM, Rojas-Garcia R, Diaz-Manera J
Publication type: Article
Publication status: Published
Journal: Neuromuscular Disorders
Year: 2023
Volume: 33
Issue: 10
Pages: 744-753
Print publication date: 01/10/2023
Online publication date: 28/08/2023
Acceptance date: 22/08/2023
Date deposited: 17/10/2023
ISSN (print): 0960-8966
ISSN (electronic): 1873-2364
Publisher: Elsevier Ltd
URL: https://doi.org/10.1016/j.nmd.2023.08.010
DOI: 10.1016/j.nmd.2023.08.010
PubMed id: 37704504
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