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

Oliwa, A., Hocking, C., Hamilton, M. J., Mclean, J. , Cumming, S., Ballantyne, B., Jampana, R., Longman, C., Monckton, D. G. and Farrugia, M. E. (2022) Masseter muscle volume as a disease marker in adult-onset myotonic dystrophy type 1. Neuromuscular Disorders, 32(11-12), pp. 893-902. (doi: 10.1016/j.nmd.2022.09.005) (PMID:36207221)

Abstract

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) and disease duration (p=0.009). After correction for lean body mass, mMV was inversely correlated with self-reported myotonia (p=0.014) and the Muscle Impairment Rating Scale (p=0.008). 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.

• Item Type: Articles
• Additional Information: Collection of the data on which this analysis is based was supported by grants from Muscular Dystrophy UK (Ref: MC3/1073) and Chief Scientist Office, Scotland (Ref: CAF/MD/15/01).
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Cumming, Dr Sarah and Monckton, Professor Darren and Hamilton, Dr Mark and Longman, Dr Cheryl and Mclean, Dr John and Ballantyne, Dr Bob and Jampana, Dr Ravi
• Authors: Oliwa, A., Hocking, C., Hamilton, M. J., Mclean, J., Cumming, S., Ballantyne, B., Jampana, R., Longman, C., Monckton, D. G., and Farrugia, M. E.
• College/School: College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing; College of Medical Veterinary and Life Sciences > School of Molecular Biosciences; College of Medical Veterinary and Life Sciences > School of Psychology & Neuroscience
• Journal Name: Neuromuscular Disorders
• Publisher: Elsevier
• ISSN: 0960-8966
• ISSN (Online): 1873-2364
• Published Online: 24 September 2022
• Copyright Holders: Copyright © 2022 Elsevier B.V.
• First Published: First published in Neuromuscular Disorders 32(11-12): 893-902
• Publisher Policy: Reproduced in accordance with the publisher copyright policy

Project Code	Award No	Project Name	Principal Investigator	Funder's Name	Funder Ref	Lead Dept
171804		Structural CNS changes, neuropsychological impairment and sleep disturbance in type 1 Myotonic dystrophy - a genotype-phenotype study	Darren Monckton	Muscular Dystrophy UK (MUSCDYST)	MC3/1073/3	MCSB - Molecular Genetics