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Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis

Lookup NU author(s): Professor Giorgio TascaORCiD, Dr 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.

Publication metadata

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


DOI: 10.1016/j.nmd.2023.08.010

PubMed id: 37704504


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Funder referenceFunder name
Academy of Medical Sciences
Charcot Marie Tooth Association
Fondo de Investigación Sanitaria
European Union
Instituto de Salud Carlos III
MR/S005021/1Medical Research Council (MRC)
National Institute for Health Research University College London Hospitals Biomedical Research center
Muscular Dystrophy Association
National Institutes of Neurological Diseases and Stroke
Office of Rare Diseases