Three-year quantitative magnetic resonance imaging and phosphorus magnetic resonance spectroscopy study in lower limb muscle in dysferlinopathy
Reyngoudt, Harmen (NMR Laboratory)
Smith, Fiona Elizabeth (Newcastle University)
Caldas de A. Araújo, Ericky (NMR Laboratory)
Wilson, Ian (Newcastle University)
Fernandez-Torron, Roberto (Hospital de Donostia (Sant Sebastià, País Basc))
James, Meredith K. (Newcastle University)
Moore, Ursula (Newcastle University)
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau)
Marty, Benjamin (NMR Laboratory)
Azzabou, Noura (NMR Laboratory)
Gordish-Dressman, Heather (George Washington University)
Rufibach, Laura E. (The JAIN Foundation)
Hodgson, Tim (Newcastle University)
Wallace, Dorothy (Newcastle University)
Ward, Louise (Newcastle University)
Boisserie, Jean Marc (NMR Laboratory)
Le Louër, Julien (NMR Laboratory)
Hilsden, Heather (Newcastle University)
Sutherland, Helen (Newcastle University)
Canal, Aurélie (Institute of Myology)
Hogrel, J.Y (Institut de Myologie (París, França))
Jacobs, Marni (George Washington University)
Stojkovic, Tanya (Institut deMyologie (París, França))
Bushby, Kate (Newcastle University)
Mayhew, Anna G. (Newcastle University)
Straub, Volker (Newcastle University)
Carlier, Pierre G. (University Paris-Saclay)
Blamire, Andrew (Newcastle University)
Universitat Autònoma de Barcelona

Date:	2022
Abstract:	Natural history studies in neuromuscular disorders are vital to understand the disease evolution and to find sensitive outcome measures. We performed a longitudinal assessment of quantitative magnetic resonance imaging (MRI) and phosphorus magnetic resonance spectroscopy (P MRS) outcome measures and evaluated their relationship with function in lower limb skeletal muscle of dysferlinopathy patients. Quantitative MRI/P MRS data were obtained at 3 T in two different sites in 54 patients and 12 controls, at baseline, and three annual follow-up visits. Fat fraction (FF), contractile cross-sectional area (cCSA), and muscle water T in both global leg and thigh segments and individual muscles and P MRS indices in the anterior leg compartment were assessed. Analysis included comparisons between patients and controls, assessments of annual changes using a linear mixed model, standardized response means (SRM), and correlations between MRI and P MRS markers and functional markers. Posterior muscles in thigh and leg showed the highest FF values. FF at baseline was highly heterogeneous across patients. In ambulant patients, median annual increases in global thigh and leg segment FF values were 4. 1% and 3. 0%, respectively (P < 0. 001). After 3 years, global thigh and leg FF increases were 9. 6% and 8. 4%, respectively (P < 0. 001). SRM values for global thigh FF were over 0. 8 for all years. Vastus lateralis muscle showed the highest SRM values across all time points. cCSA decreased significantly after 3 years with median values of 11. 0% and 12. 8% in global thigh and global leg, respectively (P < 0. 001). Water T values in ambulant patients were significantly increased, as compared with control values (P < 0. 001). The highest water T values were found in the anterior part of thigh and leg. Almost all P MRS indices were significantly different in patients as compared with controls (P < 0. 006), except for pH, and remained, similar as to water T, abnormal for the whole study duration. Global thigh water T at baseline was significantly correlated to the change in FF after 3 years (ρ = 0. 52, P < 0. 001). There was also a significant relationship between the change in functional score and change in FF after 3 years in ambulant patients (ρ = −0. 55, P = 0. 010). This multi-centre study has shown that quantitative MRI/P MRS measurements in a heterogeneous group of dysferlinopathy patients can measure significant changes over the course of 3 years. These data can be used as reference values in view of future clinical trials in dysferlinopathy or comparisons with quantitative MRI/S data obtained in other limb-girdle muscular dystrophy subtypes.
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article ; recerca ; Versió publicada
Subject:	31P MRS ; Dysferlinopathy ; Longitudinal ; Outcome measures ; Quantitative MRI
Published in:	Journal of Cachexia, Sarcopenia and Muscle, Vol. 13 Núm. 3 (june 2022) , p. 1850-1863, ISSN 2190-6009

DOI: 10.1002/jcsm.12987
PMID: 35373496

14 p, 8.0 MB

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