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.

MRI patterns of muscle involvement in type 2 and 3 spinal muscular atrophy patients / C. Brogna, L. Cristiano, T. Verdolotti, A. Pichiecchio, C. Cinnante, V. Sansone, L.M. Sconfienza, A. Berardinelli, M. Garibaldi, G. Antonini, M. Pane, M.C. Pera, L. Antonaci, L. Ficociello, E. Albamonte, G. Tasca, C. Begliuomini, T. Tartaglione, L. Maggi, A. Govoni, G. Comi, C. Colosimo, E. Mercuri. - In: JOURNAL OF NEUROLOGY. - ISSN 0340-5354. - (2019). [Epub ahead of print] [10.1007/s00415-019-09646-w]

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

V. Sansone;L.M. Sconfienza;L. Maggi;A. Govoni;G. Comi;
2019

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.
Fatty infiltration; Magnetic Resonance Imaging; Muscle atrophy; Spinal muscular atrophy
Settore MED/36 - Diagnostica per Immagini e Radioterapia
Settore MED/26 - Neurologia
2019
27-nov-2019
Article (author)
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/693715
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