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

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

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)898-912
JournalJournal of Neurology
Volume267
Issue number4
DOIs
Publication statusPublished - 2020

Keywords

  • Fatty infiltration
  • Magnetic Resonance Imaging
  • Muscle atrophy
  • Spinal muscular atrophy

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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