People with Facioscapulohumeral dystrophy (FSHD) demonstrated limited arm movements primarily from altered scapular kinematics

Philp, Fraser ORCID: 0000-0002-8552-7869 (2025) People with Facioscapulohumeral dystrophy (FSHD) demonstrated limited arm movements primarily from altered scapular kinematics. [Poster]

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Background Facioscapulohumeral dystrophy (FSHD) causes progressive muscle wasting and loss of function, with the upper-limb most affected.1-3 Factors leading to loss of arm function are poorly understood. Research is limited by studies which evaluated people with higher levels of arm function,4,5 a limited number of movements,4,6 no surface electromyography (sEMG),7 and use of simple kinematic measures/models,4-8 which did not include the scapula.4,5 A better understanding of movement profiles could help inform management.8 Purpose To quantify the movement and muscle activity patterns of adults with and without FSHD using 3D motion capture, sEMG and a more anatomically accurate model. Methods Participants’ movements were assessed during four unweighted (flexion, abduction, abduction with lateral rotation and hand to head) and self-selected weighted tasks (flexion, abduction, abduction with lateral rotation) in a single session. Marker clusters placed on the thorax, acromion and upper-limb captured 3D motions (Vicon), and sEMG electrodes on middle-trapezius, infraspinatus, triceps, latissimus-dorsi, deltoids, pectoralis-major, biceps, wrist-flexor and extensor muscles recorded muscle activity (Delsys). Joint angles were calculated using inverse kinematics and the Wu shoulder model9 in Opensim 4.4.10,11 Joint angles, sEMG patterns, and scapulohumeral rhythm for flexion and abduction were compared between groups. Results Data was collected for 14 participants (10M:4F), seven with FSHD and seven age- and sex- matched controls, a mean (SD) age of 41.6 (15.7). People with FSHD achieved lower thoracohumeral elevation across all tasks (mean difference 47°), although range of movement was similar between groups for glenohumeral elevation. Considerable variability across the acromioclavicular and sternoclavicular joints was noted in FSHD with no clear between group differences. sEMG for the FSHD group was also variable in relation to timing and normalised activity levels with no clear between group differences. Scapulohumeral rhythm was also reduded in the FSHD group. Conclusion(s) People with FSHD demonstrated limited arm movements primarily from altered scapular kinematics. The scapular and muscle activity patterns observed in the FSHD group were heterogenous which made identification of between groups difficult in our limited sample size. Implications Evaluations that focus on arm position alone are insufficient for explaining why people with FSHD lose arm function. 1. Marsollier A-C, Joubert R, Mariot V, Dumonceaux J. Targeting the polyadenylation signal of Pre-mRNA: A new gene silencing approach for facioscapulohumeral dystrophy. International Journal of Molecular Sciences. 2018;19(5):1347. 2. Oliva J, Galasinski S, Richey A, et al. Clinically advanced p38 inhibitors suppress DUX4 expression in cellular and animal models of facioscapulohumeral muscular dystrophy. Journal of Pharmacology and Experimental Therapeutics. 2019;370(2):219-230. 3. Schätzl T, Kaiser L, Deigner H-P. Facioscapulohumeral muscular dystrophy: genetics, gene activation and downstream signalling with regard to recent therapeutic approaches: an update. Orphanet Journal of Rare Diseases. 2021/03/12 2021;16(1):129. doi:10.1186/s13023-021-01760-1 4. Essers JMN, Peters A, Meijer K, Peters K, Murgia A. Superficial Shoulder Muscle Synergy Analysis in Facioscapulohumeral Dystrophy During Humeral Elevation Tasks. IEEE Transactions on Neural Systems and Rehabilitation Engineering. 2019;27(8):1556-1565. doi:10.1109/TNSRE.2019.2927765 5. Bergsma A, Murgia A, Cup EH, Verstegen PP, Meijer K, De Groot IJ. Upper extremity kinematics and muscle activation patterns in subjects with facioscapulohumeral dystrophy. Archives of physical medicine and rehabilitation. 2014;95(9):1731-1741. 6. Bakhtiary AH, Phoenix J, Edwards RH, Frostick SP. The effect of motor learning in facioscapulohumeral muscular dystrophy patients. Eur J Appl Physiol. Dec 2000;83(6):551-8. doi:10.1007/s004210000297 7. Savcun Demirci C, Turgut E, Ayvat E, et al. Kinematic analysis of scapular movements in patients with facioscapulohumeral muscular dystrophy. J Electromyogr Kinesiol. Feb 2018;38:88-93. doi:10.1016/j.jelekin.2017.11.007 8. Essers J, Meijer K, Peters A, Murgia A. The effects of facioscapulohumeral dystrophy and dynamic arm support on upper extremity muscle coordination in functional tasks. Neuromuscular Disorders. 2023;33(8):651-659. 9. Wu W, Lee PVS, Bryant AL, Galea M, Ackland DC. Subject-specific musculoskeletal modeling in the evaluation of shoulder muscle and joint function. J Biomech. Nov 7 2016;49(15):3626-3634. doi:10.1016/j.jbiomech.2016.09.025 10. Delp SL, Anderson FC, Arnold AS, et al. OpenSim: open-source software to create and analyze dynamic simulations of movement. IEEE transactions on biomedical engineering. 2007;54(11):1940-1950. doi:10.1109/TBME.2007.901024 11. Seth A, Hicks JL, Uchida TK, et al. OpenSim: Simulating musculoskeletal dynamics and neuromuscular control to study human and animal movement. PLoS computational biology. 2018;14(7):e1006223. doi:https://doi.org/10.1371/journal.pcbi.1006223 1. Marsollier A-C, Joubert R, Mariot V, Dumonceaux J. Targeting the polyadenylation signal of Pre-mRNA: A new gene silencing approach for facioscapulohumeral dystrophy. International Journal of Molecular Sciences. 2018;19(5):1347. 2. Oliva J, Galasinski S, Richey A, et al. Clinically advanced p38 inhibitors suppress DUX4 expression in cellular and animal models of facioscapulohumeral muscular dystrophy. Journal of Pharmacology and Experimental Therapeutics. 2019;370(2):219-230. 3. Schätzl T, Kaiser L, Deigner H-P. Facioscapulohumeral muscular dystrophy: genetics, gene activation and downstream signalling with regard to recent therapeutic approaches: an update. Orphanet Journal of Rare Diseases. 2021/03/12 2021;16(1):129. doi:10.1186/s13023-021-01760-1 4. Essers JMN, Peters A, Meijer K, Peters K, Murgia A. Superficial Shoulder Muscle Synergy Analysis in Facioscapulohumeral Dystrophy During Humeral Elevation Tasks. IEEE Transactions on Neural Systems and Rehabilitation Engineering. 2019;27(8):1556-1565. doi:10.1109/TNSRE.2019.2927765 5. Bergsma A, Murgia A, Cup EH, Verstegen PP, Meijer K, De Groot IJ. Upper extremity kinematics and muscle activation patterns in subjects with facioscapulohumeral dystrophy. Archives of physical medicine and rehabilitation. 2014;95(9):1731-1741. 6. Bakhtiary AH, Phoenix J, Edwards RH, Frostick SP. The effect of motor learning in facioscapulohumeral muscular dystrophy patients. Eur J Appl Physiol. Dec 2000;83(6):551-8. doi:10.1007/s004210000297 7. Savcun Demirci C, Turgut E, Ayvat E, et al. Kinematic analysis of scapular movements in patients with facioscapulohumeral muscular dystrophy. J Electromyogr Kinesiol. Feb 2018;38:88-93. doi:10.1016/j.jelekin.2017.11.007 8. Essers J, Meijer K, Peters A, Murgia A. The effects of facioscapulohumeral dystrophy and dynamic arm support on upper extremity muscle coordination in functional tasks. Neuromuscular Disorders. 2023;33(8):651-659. 9. Wu W, Lee PVS, Bryant AL, Galea M, Ackland DC. Subject-specific musculoskeletal modeling in the evaluation of shoulder muscle and joint function. J Biomech. Nov 7 2016;49(15):3626-3634. doi:10.1016/j.jbiomech.2016.09.025 10. Delp SL, Anderson FC, Arnold AS, et al. OpenSim: open-source software to create and analyze dynamic simulations of movement. IEEE transactions on biomedical engineering. 2007;54(11):1940-1950. doi:10.1109/TBME.2007.901024 11. Seth A, Hicks JL, Uchida TK, et al. OpenSim: Simulating musculoskeletal dynamics and neuromuscular control to study human and animal movement. PLoS computational biology. 2018;14(7):e1006223. doi:https://doi.org/10.1371/journal.pcbi.1006223

Item Type:	Poster
Divisions:	Faculty of Health and Life Sciences Faculty of Health and Life Sciences > Institute of Population Health
Depositing User:	Symplectic Admin
Date Deposited:	17 Sep 2025 15:22
Last Modified:	17 Sep 2025 15:22
URI:	https://livrepository.liverpool.ac.uk/id/eprint/3194470