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

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 imagin...

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Published in:	Neuromuscular disorders : NMD Vol. 33; no. 10; pp. 744 - 753
Main Authors:	Esteller, Diana, Morrow, Jasper, Alonso-Pérez, Jorge, Reyes, David, Carbayo, Alvaro, Bisogni, Giulia, Cateruccia, Michela, Monforte, Mauro, Tasca, Giorgio, Alangary, Aljwhara, Marini-Bettolo, Chiara, Sabatelli, Mario, Laura, Matilde, Ramdharry, Gita, Bolaño-Díaz, Carla, Turon-Sans, Janina, Töpf, Ana, Guglieri, Michella, Rossor, Alexander M, Olive, Montse, Bertini, Enrico, Straub, Volker, Reilly, Mary M, Rojas-García, Ricard, Díaz-Manera, Jordi
Format:	Journal Article
Language:	English
Published:	England 01-10-2023
Subjects:	Humans Leg Lower Extremity Magnetic Resonance Imaging Muscle, Skeletal - diagnostic imaging Muscle, Skeletal - pathology Retrospective Studies Fat islands Spinal muscle atrophy Distal hereditary motor neuropathies Muscle MRI BICD2 Charcot
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Summary:	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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0960-8966 1873-2364 1873-2364
DOI:	10.1016/j.nmd.2023.08.010