Effectiveness of exercise therapy on motor functions among individuals with facioscapulohumeral muscular dystrophy: a systematic review
DOI:
https://doi.org/10.17267/2238-2704rpf.2025.e6029Keywords:
Muscular Dystrophy, Exercise Therapy, Muscle Weakness, Muscular Dystrophy FacioscapulohumeralAbstract
ABSTRACT | INTRODUCTION: Facioscapulohumeral muscular dystrophy (FSHD) is prevalent innate autosomal dominant form of muscular dystrophy (MD) involving asymmetrical progression of muscle weakness. However, there is a dearth of literature that exists regarding effective exercise therapy interventions. Therefore, this review aims to identify and synthesize the existing evidence on effective exercise therapy interventions for improving motor functions. OBJECTIVE: To evaluate the current evidence of the effectiveness of exercise therapy programs in improving motor function among individuals with FSHD. MATERIALS AND METHODS: We gathered data as per Preferred Reporting Items for Systematic Review and Meta- Analysis (PRISMA) guidelines. Multiple databases were searched for Randomized Controlled trials that investigate the effectiveness of physiotherapy intervention for FSHD published from 2004 to 2024. PEDro scale and Cochrane risk of bias tool was used to evaluate the studies’ quality and risk of bias. RESULT: Out of 974 studies, only 7 studies fulfilled the predesigned selection criteria of the review. Out of 7 studies, five studies show good quality and low risk of bias while two studies show fair quality and high risk of bias. In included studies strength training (ST), endurance training (ET), aerobic training (AET), and high-intensity interval training (HIT), were commonly used treatment interventions. CONCLUSION: This review concludes that the various interventions utilized in the studies that were included in our analysis were both safe and effective in enhancing motor function for individuals diagnosed with FSHD.
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1. Bergsma A, Cup EH, Geurts AC, de Groot IJ. Upper extremity function and activity in facioscapulohumeral dystrophy and limb-girdle muscular dystrophies: a systematic review. Disabil Rehabil. 2015;37(12):1017-32. https://doi.org/10.3109/09638288.2014.948138
2. Schätzl T, Kaiser L, Deigner HP. Facioscapulohumeral muscular dystrophy: genetics, gene activation and downstream signalling with regard to recent therapeutic approaches: an update. Orphanet J Rare Dis. 2021 Mar 12;16(1):129. https://doi.org/10.1186/s13023-021-01760-1
3. Bankolé LC, Millet GY, Temesi J, Bachasson D, Ravelojaona M, Wuyam B, et al. Safety and efficacy of a 6-month home-based exercise program in patients with facioscapulohumeral muscular dystrophy: A randomized controlled trial. Medicine (Baltimore). 2016 Aug;95(31):e4497. https://doi.org/10.1097/MD.0000000000004497
4. Statland JM, Tawil R. Facioscapulohumeral Muscular Dystrophy. Continuum (Minneap Minn). 2016 Dec;22(6, Muscle and Neuromuscular Junction Disorders):1916-1931. https://doi.org/10.1212/CON.0000000000000399
5. Aguirre AS, Moncayo OMA, Mosquera J, Arce VEM, Gallegos C, Ortiz JF, et al. Treatment of Facioscapulohumeral Muscular Dystrophy (FSHD): A Systematic Review. Cureus. 2023 Jun 3;15(6):e39903. https://doi.org/10.7759/cureus.39903
6. Deenen JCW, Arnts H, van der Maarel SM, Padberg GW, Verschuuren JJGM, Bakker E, et al. Population-based incidence and prevalence of facioscapulohumeral dystrophy. Neurology. 2014 Sep 16;83(12):1056-9. https://doi.org/10.1212/WNL.0000000000000797
7. Tawil R, Kissel JT, Heatwole C, Pandya S, Gronseth G, Benatar M, et al. Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology. 2015 Jul 28;85(4):357-64. https://doi.org/10.1212/WNL.0000000000001783
8. Bettio C, Banchelli F, Salsi V, Vicini R, Crisafulli O, Ruggiero L, et al. Physical activity practiced at a young age is associated with a less severe subsequent clinical presentation in facioscapulohumeral muscular dystrophy. BMC Musculoskelet Disord. 2024 Jan 5;25(1):35. https://doi.org/10.1186/s12891-023-07150-x
9. Ghasemi M, Emerson CP Jr, Hayward LJ. Outcome Measures in Facioscapulohumeral Muscular Dystrophy Clinical Trials. Cells. 2022 Feb 16;11(4):687. https://doi.org/10.3390/cells11040687
10. Calisgan E, Yilmaz OT, Tuncel D, Duger T. Early adulthood onset of muscle weakness in facioscapulohumeral muscular dystrophy and physical therapy management: An unusual case report. Med Science. 2019;8(4):1036-40. https://doi.org/10.5455/medscience.2019.08.9108
11. Amzali S, Wilson VD, Bommart S, Picot MC, Galas S, Mercier J, et al. Nutritional Status of Patients with Facioscapulohumeral Muscular Dystrophy. Nutrients. 2023 Mar 30;15(7):1673. https://doi.org/10.3390/nu15071673
12. Andersen G, Prahm KP, Dahlqvist JR, Citirak G, Vissing J. Aerobic training and postexercise protein in facioscapulohumeral muscular dystrophy: RCT study. Neurology. 2015 Aug 4;85(5):396-403. https://doi.org/10.1212/WNL.0000000000001808
13. Turken A. The effect of rehabilitation in patients with facioscapulohumeral muscular dystrophy: A prospective clinical study. The Annals of Clinical and Analytical Medicine. 2022;13(7):802-806. https://doi.org/10.4328/ACAM.21129
14. Demirci CS, Kılınç ÖO, Yıldız Tİ, Ayvat E, Ayvat F, Turgut E, et al. Effect of taping on scapular kinematics of patients with facioscapulohumeral muscular dystrophy. Neurol Sci. 2019 Aug;40(8):1583-1588. https://doi.org/10.1007/s10072-019-03846-y
15. Rijken NHM, van Engelen BGM, de Rooy JWJ, Weerdesteyn V, Geurts ACH. Gait propulsion in patients with facioscapulohumeral muscular dystrophy and ankle plantarflexor weakness. Gait Posture. 2015 Feb;41(2):476-81. https://doi.org/10.1016/j.gaitpost.2014.11.013
16. Hamel J, Tawil R. Facioscapulohumeral Muscular Dystrophy: Update on Pathogenesis and Future Treatments. Neurotherapeutics. 2018 Oct;15(4):863-871. https://doi.org/10.1007/s13311-018-00675-3
17. Giannini S, Faldini C, Pagkrati S, Grandi G, Digennaro V, Luciani D, et al. Fixation of winged scapula in facioscapulohumeral muscular dystrophy. Clin Med Res. 2007 Oct;5(3):155-62. https://doi.org/10.3121/cmr.2007.736
18. van der Kooi EL, Vogels OJM, van Asseldonk RJGP, Lindeman E, Hendriks JCM, Wohlgemuth M, et al. Strength training and albuterol in facioscapulohumeral muscular dystrophy. Neurology. 2004 Aug 24;63(4):702-8. https://doi.org/10.1212/01.wnl.0000134660.30793.1f
19. van der Kooi EL, Kalkman JS, Lindeman E, Hendriks JCM, van Engelen BGM, Bleijenberg G, et al. Effects of training and albuterol on pain and fatigue in facioscapulohumeral muscular dystrophy. J Neurol. 2007 Jul;254(7):931-40. https://doi.org/10.1007/s00415-006-0432-4
20. Voet NBM, Bleijenberg G, Padberg GW, van Engelen BGM, Geurts ACH. Effect of aerobic exercise training and cognitive behavioural therapy on reduction of chronic fatigue in patients with facioscapulohumeral dystrophy: protocol of the FACTS-2-FSHD trial. BMC Neurol. 2010 Jun 30;10:56. https://doi.org/10.1186/1471-2377-10-56
21. Voet N, Bleijenberg G, Hendriks J, De Groot I, Padberg G, Van Engelen B, et al. Both aerobic exercise and cognitive-behavioral therapy reduce chronic fatigue in FSHD. Neurology. 2014;83(21):1914–1922. https://doi.org/10.1212/WNL.0000000000001008
22. Andersen G, Heje K, Buch AE, Vissing J. High-intensity interval training in facioscapulohumeral muscular dystrophy type 1: a randomized clinical trial. J Neurol. 2017 Jun;264(6):1099-1106. https://doi.org/10.1007/s00415-017-8497-9
23. Eichinger K, Heatwole C, Heininger S, Stinson N, Stock CM, Grosmann C, et al. Validity of the 6 minute walk test in facioscapulohumeral muscular dystrophy. Muscle Nerve. 2017 Mar;55(3):333-337. https://doi.org/10.1002/mus.25251
24. Voet NBM, van der Kooi EL, Riphagen II, Lindeman E, van Engelen BGM, Geurts ACH. Strength training and aerobic exercise training for muscle disease. Cochrane Database Syst Rev. 2013 Jul 9;(7):CD003907. https://doi.org/10.1002/14651858.CD003907.pub4
25. Andersen SP, Sveen ML, Hansen RS, Madsen KL, Hansen JB, Madsen M, et al. Creatine kinase response to high-intensity aerobic exercise in adult-onset muscular dystrophy. Muscle Nerve. 2013 Dec;48(6):897-901. https://doi.org/10.1002/mus.23846
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Copyright (c) 2025 Angel Gupta, Deeksha Sharma, Sarita Khadyat, Arushi Mishra, Ankit Kumar

This work is licensed under a Creative Commons Attribution 4.0 International License.
This work is licensed under a Creative Commons Attribution 4.0 International License.
