Masseter muscle volume as a disease marker in adult-onset myotonic dystrophy type 1.

Autor: Oliwa A; School of Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, United Kingdom. Electronic address: agata.oliwa@newcastle.ac.uk., Hocking C; School of Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, United Kingdom., Hamilton MJ; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, United Kingdom., McLean J; Department of Neuroradiology, Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow G51 4TF, United Kingdom., Cumming S; Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, United Kingdom; Institute of Health and Wellbeing, University of Glasgow, Gartnavel Royal Hospital, Glasgow G12 0XH, United Kingdom., Ballantyne B; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, United Kingdom., Jampana R; Department of Neuroradiology, Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow G51 4TF, United Kingdom., Longman C; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow G51 4TF, United Kingdom., Monckton DG; Institute of Molecular, Cell and Systems Biology, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow G12 8QQ, United Kingdom; Institute of Health and Wellbeing, University of Glasgow, Gartnavel Royal Hospital, Glasgow G12 0XH, United Kingdom., Farrugia ME; Department of Neurology, Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow G51 4TF, United Kingdom.
Jazyk: angličtina
Zdroj: Neuromuscular disorders : NMD [Neuromuscul Disord] 2022 Dec; Vol. 32 (11-12), pp. 893-902. Date of Electronic Publication: 2022 Sep 24.
DOI: 10.1016/j.nmd.2022.09.005
Abstrakt: The advent of clinical trials in myotonic dystrophy type 1 (DM1) necessitates the identification of reliable outcome measures to quantify different disease manifestations using minimal number of assessments. In this study, clinical correlations of mean masseter volume (mMV) were explored to evaluate its potential as a marker of muscle involvement in adult-onset DM1 patients. We utilised data from a preceding study, pertaining to 39 DM1 patients and 20 age-matched control participants. In this study participants had undergone MRI of the brain, completed various clinical outcome measures and had CTG repeats measured by small-pool PCR. Manual segmentation of masseter muscles was performed by a single rater to estimate mMV. The masseter muscle was atrophied in DM1 patients when compared to controls (p<0.001). Significant correlations were found between mMV and estimated progenitor allele length (p = 0.001), modal allele length (p = 0.003), disease duration (p = 0.009) and and the Muscle Impairment Rating Scale (p = 0.008). After correction for lean body mass, mMV was also inversely correlated with self-reported myotonia (p = 0.014). This study demonstrates that changes in mMV are sensitive in reflecting the underlying disease process. Quantitative MRI methods demonstrate that data concerning both central and peripheral disease could be acquired from MR brain imaging studies in DM1 patients.
Competing Interests: Declaration of Competing Interest AO, CH, MJH, JMcL, SC, BB, RJ, CL and MEF declare no conflict of interest. DGM: Within the last three years Professor Monckton has been a scientific consultant and/or received an honoraria/stock options from AMO Pharma, LoQus23, Triplet Therapeutics and Vertex Pharmaceuticals. Professor Monckton has also had research contracts with AMO Pharma and Vertex Pharmaceuticals.
(Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
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