Abstract
Duchenne muscular dystrophy (DMD) is a rare genetic disorder typically presenting with muscle weakness and reduced tone of trunk and lower extremities. The sonoelastographic properties of DMD are poorly understood. We describe sonoelastographic characteristics of a patient’s trunk and lower extremity musculature. An 8-year-old male presented with a 5-year history of DMD. Sonoelastographic measures of the gluteus maximus and medius, lumbar erector spinae, rectus abdominis, rectus femoris, biceps femoris, tibialis anterior, medial and lateral gastrocnemius muscles were obtained. Sonoelastography demonstrated increased elasticity by elevated kiloPascals (kPa) across all muscles, except the lumbar erector spinae. Patient values were compared to an age-matched healthy control. These abnormal sonoelastographic findings reflected the pathological mechanical properties of DMD. Sonoelastography was valuable for characterizing the mechanical properties of normal and abnormal muscle tissue. There is limited information on the sonoelastography application to DMD. Sonoelastography may serve as a useful measure for diagnosis and monitoring clinical outcomes for DMD.
Similar content being viewed by others
References
Pillen S, Arts IM, Zwarts MJ (2008) Muscle ultrasound in neuromuscular disorders. Muscle Nerve 37(6):679–693. https://doi.org/10.1002/mus.21015
Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, Kaul A, Kinnett K, McDonald C, Pandya S, Poysky J, Shapiro F, Tomezsko J, Constantin C, Group DMDCCW (2010) Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol 9(1):77–93. https://doi.org/10.1016/s1474-4422(09)70271-6
Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, Kaul A, Kinnett K, McDonald C, Pandya S, Poysky J, Shapiro F, Tomezsko J, Constantin C, Group DMDCCW (2010) Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol 9(2):177–189. https://doi.org/10.1016/s1474-4422(09)70272-8
Carls C, Krajacic P (2017) Bridging the gap: an osteopathic primary care-centered approach to Duchenne muscular dystrophy. J Am Osteopath Assoc 117(6):377–385. https://doi.org/10.7556/jaoa.2017.076
Serrano AL, Munoz-Canoves P (2010) Regulation and dysregulation of fibrosis in skeletal muscle. Exp Cell Res 316(18):3050–3058. https://doi.org/10.1016/j.yexcr.2010.05.035
Kharraz Y, Guerra J, Pessina P, Serrano AL, Munoz-Canoves P (2014) Understanding the process of fibrosis in Duchenne muscular dystrophy. Biomed Res Int 2014:965631. https://doi.org/10.1155/2014/965631
Weng WC, Tsui PH, Lin CW, Lu CH, Lin CY, Shieh JY, Lu FL, Ee TW, Wu KW, Lee WT (2017) Evaluation of muscular changes by ultrasound Nakagami imaging in Duchenne muscular dystrophy. Sci Rep 7(1):4429. https://doi.org/10.1038/s41598-017-04131-8
Lacourpaille L, Gross R, Hug F, Guevel A, Pereon Y, Magot A, Hogrel JY, Nordez A (2017) Effects of Duchenne muscular dystrophy on muscle stiffness and response to electrically-induced muscle contraction: a 12-month follow-up. Neuromuscul Disord 27(3):214–220. https://doi.org/10.1016/j.nmd.2017.01.001
Pigula-Tresansky AJ, Wu JS, Kapur K, Darras BT, Rutkove SB, Anthony BW (2018) Muscle compression improves reliability of ultrasound echo intensity. Muscle Nerve 57(3):423–429. https://doi.org/10.1002/mus.25779
Zaidman CM, Wu JS, Kapur K, Pasternak A, Madabusi L, Yim S, Pacheck A, Szelag H, Harrington T, Darras BT, Rutkove SB (2017) Quantitative muscle ultrasound detects disease progression in Duchenne muscular dystrophy. Ann Neurol 81(5):633–640. https://doi.org/10.1002/ana.24904
Polavarapu K, Manjunath M, Preethish-Kumar V, Sekar D, Vengalil S, Thomas P, Sathyaprabha TN, Bharath RD, Nalini A (2016) Muscle MRI in Duchenne muscular dystrophy: evidence of a distinctive pattern. Neuromuscul Disord 26(11):768–774. https://doi.org/10.1016/j.nmd.2016.09.002
Li W, Zheng Y, Zhang W, Wang Z, Xiao J, Yuan Y (2015) Progression and variation of fatty infiltration of the thigh muscles in Duchenne muscular dystrophy, a muscle magnetic resonance imaging study. Neuromuscul Disord 25(5):375–380. https://doi.org/10.1016/j.nmd.2015.01.003
Li GD, Liang YY, Xu P, Ling J, Chen YM (2016) Diffusion-tensor imaging of thigh muscles in duchenne muscular dystrophy: correlation of apparent diffusion coefficient and fractional anisotropy values with fatty infiltration. AJR Am J Roentgenol 206(4):867–870. https://doi.org/10.2214/AJR.15.15028
Ponrartana S, Ramos-Platt L, Wren TA, Hu HH, Perkins TG, Chia JM, Gilsanz V (2015) Effectiveness of diffusion tensor imaging in assessing disease severity in Duchenne muscular dystrophy: preliminary study. Pediatr Radiol 45(4):582–589. https://doi.org/10.1007/s00247-014-3187-6
Creze M, Nordez A, Soubeyrand M, Rocher L, Maitre X, Bellin MF (2018) Shear wave sonoelastography of skeletal muscle: basic principles, biomechanical concepts, clinical applications, and future perspectives. Skeletal Radiol 47(4):457–471. https://doi.org/10.1007/s00256-017-2843-y
Lacourpaille L, Nordez A, Hug F, Doguet V, Andrade R, Guilhem G (2017) Early detection of exercise-induced muscle damage using elastography. Eur J Appl Physiol 117(10):2047–2056. https://doi.org/10.1007/s00421-017-3695-9
Lacourpaille L, Hug F, Guevel A, Pereon Y, Magot A, Hogrel JY, Nordez A (2015) Non-invasive assessment of muscle stiffness in patients with Duchenne muscular dystrophy. Muscle Nerve 51(2):284–286. https://doi.org/10.1002/mus.24445
Pichiecchio A, Alessandrino F, Bortolotto C, Cerica A, Rosti C, Raciti MV, Rossi M, Berardinelli A, Baranello G, Bastianello S, Calliada F (2018) Muscle ultrasound elastography and MRI in preschool children with Duchenne muscular dystrophy. Neuromuscul Disord 28(6):476–483. https://doi.org/10.1016/j.nmd.2018.02.007
Lieber RL, Ward SR (2013) Cellular mechanisms of tissue fibrosis. 4. Structural and functional consequences of skeletal muscle fibrosis. Am J Physiol Cell Physiol 305(3):C241–C252. https://doi.org/10.1152/ajpcell.00173.2013
Aartsma-Rus A, Hegde M, Ben-Omran T, Buccella F, Ferlini A, Gallano P, Howell RR, Leturcq F, Martin AS, Potulska-Chromik A, Saute JA, Schmidt WM, Sejersen T, Tuffery-Giraud S, Uyguner ZO, Witcomb LA, Yau S, Nelson SF (2019) Evidence-based consensus and systematic review on reducing the time to diagnosis of duchenne muscular dystrophy. J Pediatr 204:305–313. https://doi.org/10.1016/j.jpeds.2018.10.043e314
Del Rocio Cruz-Guzman O, Rodriguez-Cruz M, Almeida-Becerril T, Maldonado-Hernandez J, Baeza CW (2019) Muscle function and age are associated with loss of bone mineral density in Duchenne muscular dystrophy. Muscle Nerve. https://doi.org/10.1002/mus.26416
Berko NS, Fitzgerald EF, Amaral TD, Payares M, Levin TL (2014) Ultrasound elastography in children: establishing the normal range of muscle elasticity. Pediatr Radiol 44(2):158–163. https://doi.org/10.1007/s00247-013-2793-z
Guiraud S, Chen H, Burns DT, Davies KE (2015) Advances in genetic therapeutic strategies for Duchenne muscular dystrophy. Exp Physiol 100(12):1458–1467. https://doi.org/10.1113/EP085308
Conboy I, Murthy N, Etienne J, Robinson Z (2018) Making gene editing a therapeutic reality. F1000Research. https://doi.org/10.12688/f1000research.16106.1
Wang J, Wang GQ, Wang H, Chen QM, Burczynski FJ (2019) Review of recent patents and developments in skeletal muscle regeneration. Recent Pat Drug Deliv Formul 10:15. https://doi.org/10.2174/1872211313666190102102005
Funding
No finding was received.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of interest
The authors declare that they have no conflict of interest.
Ethical approval
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. This article does not contain any studies with animals performed by any of the authors.
Informed consent
Informed consent was obtained from all individual participants included in the study.
Additional information
Publisher's Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Rights and permissions
About this article
Cite this article
Cornelson, S.M., Ruff, A.N., Perillat, M. et al. Sonoelastography of the trunk and lower extremity muscles in a case of Duchenne muscular dystrophy. J Ultrasound 24, 343–347 (2021). https://doi.org/10.1007/s40477-019-00394-1
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s40477-019-00394-1