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. 2024 Dec;70(6):1205-1214.
doi: 10.1002/mus.28263. Epub 2024 Sep 30.

Development of an ultrasound-based metric of muscle functional capacity for use in patients with neuromuscular disease

Allison N McCrady  1 , Chelsea D Masterson  2 , Laura E Barnes  3 , Rebecca J Scharf  2 , Silvia S Blemker  1
Affiliations

Development of an ultrasound-based metric of muscle functional capacity for use in patients with neuromuscular disease

Allison N McCrady et al. Muscle Nerve. 2024 Dec.

Abstract

Introduction/aims: Spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) are progressive neuromuscular disorders characterized by severe muscle weakness and functional decline (Pillen et al., Muscle Nerve 2008; 37(6):679-693). With new therapeutics, objective methods with increased sensitivity are needed to assess muscle function. Ultrasound imaging is a promising approach for assessing muscle fat and fibrosis in neuromuscular disorders. This study builds on prior work by combining ultrasound-based measurements of muscle size, shape, and quality, relating these measures to muscle strength, and proposing a multivariable image-based estimate of muscle function.

Methods: Maximum voluntary elbow flexion torque of 36 participants (SMA, DMD, and healthy controls) was measured by hand-held dynamometry and elbow flexor muscles were imaged using ultrasound. Muscle size (cross-sectional area, maximum Feret diameter or width, and thickness), quality (echogenicity, texture anisotropy index), and cross-sectional shape (diameter ratio) were measured. Multivariable regression was used to select ultrasound measurements that predict elbow flexion torque.

Results: Significant differences were observed in muscle size (decreased), shape (thinned), and quality (decreased) with increased disease severity and compared to healthy participants. CSA (brachioradialis R2 = 0.51), maximum Feret diameter (biceps R2 = 0.49, brachioradialis R2 = 0.58) and echogenicity (brachioradialis R2 = 0.61) were most correlated with torque production. Multivariable regression models identified that muscle size (CSA, maximum Feret diameter) and quality (echogenicity) were both essential to predict elbow flexion torque (R2 = 0.65).

Discussion: A multivariable approach combining muscle size and quality improves strength predictions over single variable approaches. These methods present a promising avenue for the development of sensitive and functionally relevant biomarkers of neuromuscular disease.

Keywords: Duchenne muscular dystrophy; biomarker; echogenicity; muscle function; spinal muscular atrophy; ultrasound.

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References

REFERENCES

    1. Clemens PR, Rao VK, Connolly AM, et al. Safety, tolerability, and efficacy of viltolarsen in boys with Duchenne muscular dystrophy amenable to exon 53 skipping: a phase 2 randomized clinical trial. JAMA Neurol. 2020;77(8):982‐991. doi:10.1001/JAMANEUROL.2020.1264
    1. Mendell JR, Shieh PB, McDonald CM, et al. Expression of SRP‐9001 dystrophin and stabilization of motor function up to 2 years post‐treatment with delandistrogene moxeparvovec gene therapy in individuals with Duchenne muscular dystrophy. Front Cell Dev Biol. 2023;11:1167762. doi:10.3389/fcell.2023.1167762
    1. Montes J, Gordon AM, Pandya S, De Vivo DC, Kaufmann P. Clinical outcome measures in spinal muscular atrophy. J Child Neurol. 2009;24(8):968‐978. doi:10.1177/0883073809332702
    1. Govoni A, Magri F, Brajkovic S, et al. Ongoing therapeutic trials and outcome measures for Duchenne muscular dystrophy. Cell Mol Life Sci. 2013;70:4585‐4602. doi:10.1007/s00018‐013‐1396‐z
    1. Pearl ML, van de Bunt F, Pearl M, Lightdale‐Miric N, Rethlefsen S, Loiselle J. Assessing shoulder motion in children: age limitations to mallet and ABC loops. Clin Orthop Relat Res. 2014;472(2):740‐748. doi:10.1007/s11999‐013‐3324‐9

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