Journal Article

MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients

Garibaldi, Matteo, Albamonte, Emilio, Ficociello, Luana, Begliuomini, Chiara, Antonaci, Laura, Verdolotti, Tommaso, Govoni, Alessandra, Brogna, Claudia, Tasca, Giorgio, Colosimo, Cesare, Mercuri, Eugenio, Tartaglione, Tommaso, Cinnante, Claudia, Pichiecchio, Anna, Sconfienza, Luca Maria, Pera, Maria Carmela, Berardinelli, Angela, Antonini, Giovanni, Cristiano, Lara, Comi, Giacomo, Sansone, Valeria, Pane, Marika, Maggi, Lorenzo

2020

Overview

Only few studies have reported muscle involvement in spinal muscular atrophy using muscle MRI but this has not been systematically investigated in a large cohort of both pediatric and adult patients with type 2 and type 3 spinal muscular atrophy. The aim of the present study was to define possible patterns of muscle involvement on MRI, assessing both fatty replacement and muscle atrophy, in a cohort of type 2 and type 3 spinal muscular atrophy children and adults (age range 2–45 years), including both ambulant and non-ambulant patients. Muscle MRI protocol consisted in T1-weighted sequences acquired on axial plane covering the pelvis, the thigh, and the leg with contiguous slices. Each muscle was examined through its whole extension using a grading system that allows a semiquantitative evaluation of fatty infiltration. Thigh muscles were also grouped in anterior, posterior, and medial compartment for classification of global atrophy. The results showed a large variability in both type 2 and type 3 spinal muscular atrophy, with a various degree of proximal to distal gradient. Some muscles, such us the adductor longus and gracilis were always selectively spared. In all patients, the involvement was a combination of muscle atrophy and muscle infiltration. The variability observed may help to better understand both natural history and response to new treatments.

• Publisher: Springer Berlin Heidelberg,Springer Nature B.V
• Subject: Adiposity - physiology / Adolescent / Adult / Atrophy / Atrophy - pathology / Child / Child, Preschool / Female / Humans / Magnetic Resonance Imaging / Male / Medicine / Medicine & Public Health / Middle Aged / Muscle, Skeletal - diagnostic imaging / Muscle, Skeletal - metabolism / Muscle, Skeletal - pathology / Muscles / Muscular Atrophy, Spinal - diagnostic imaging / Muscular Atrophy, Spinal - metabolism / Muscular Atrophy, Spinal - pathology / Neurology / Neuromuscular diseases / Neuroradiology / Neurosciences / Original Communication / Pelvis / Prospective Studies / Spinal Muscular Atrophies of Childhood - diagnostic imaging / Spinal Muscular Atrophies of Childhood - metabolism / Spinal Muscular Atrophies of Childhood - pathology / Spinal muscular atrophy / Young Adult