SavedAdd your journal

Journals / Fenerbahçe Üniversitesi Sağlık Bilimleri Dergisi / 2026 / Cilt: 4 Sayı: 2

Treatment Approaches in Individuals with Facioscapulohumeral Muscular Dystropy: Review Article

Fasyoskapulohumeral Musküler Distrofili Bireylerde Tedavi Yaklaşımları: Derleme Makalesi

Ayşenur Erekdağ(BEZM-İ ÂLEM VAKIF ÜNİVERSİTESİ, SAĞLIK BİLİMLERİ FAKÜLTESİ, FİZYOTERAPİ VE REHABİLİTASYON BÖLÜMÜ)0000-0002-4536-5519
İpek Yeldan(İSTANBUL ÜNİVERSİTESİ-CERRAHPAŞA, SAĞLIK BİLİMLERİ FAKÜLTESİ, FİZYOTERAPİ VE REHABİLİTASYON BÖLÜMÜ)0000-0002-6344-4157
Pages
411–422
Publication Date
2024-08-26
🏛️Bibliographic metadata and full text access for this article are provided via DergiPark.
DergiPark Record ↗
✨

AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Consequently, the aim of this article is to identify potential therapeutic options for individuals with FSHD and to examine the effects of these methods on patients, given the current ambiguity surrounding the pathophysiology of the disease.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent muscle disorders in society, characterized by onset primarily in the upper extremities and progression throughout the entire body.
📊
Key Findings & Data:The management of the disease involves the utilization of pharmacological, conservative, and surgical approaches.
💡
Conclusion & Impact:Consequently, the aim of this article is to identify potential therapeutic options for individuals with FSHD and to examine the effects of these methods on patients, given the current ambiguity surrounding the pathophysiology of the disease.
🔬Design:Derleme
📍Scope:Comprehensive Sample
⚙️Variables:Nöromüsküler kas hastalığı · egzersiz · skapulotorasik artrodez

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most prevalent muscle disorders in society, characterized by onset primarily in the upper extremities and progression throughout the entire body. The management of the disease involves the utilization of pharmacological, conservative, and surgical approaches. However, due to the unclear pathophysiology of the condition, conflicting perspectives exist among current treatment modalities. Consequently, the aim of this article is to identify potential therapeutic options for individuals with FSHD and to examine the effects of these methods on patients, given the current ambiguity surrounding the pathophysiology of the disease.

Özet

Fasyoskapulohumeral musküler distrofi (FSHD), üst ekstremite temelli başlayan ve tüm vücuda ilerleyen; toplumda en yaygın görülen kas hastalıklarından biridir. Hastalığın tedavi yönetiminde farmakolojik, konservatif ve cerrahi yöntemler kullanıldığı bildirilmektedir. Fakat haftalığın patofizyoloji net olarak açıklanamadığı için mevcut yaklaşımlar arasında çelişkiler bulunmaktadır. Bu nedenle, bu makalenin amacı, FSHD’li bireylerde kullanılabilecek tedavi seçeneklerinin belirlenebilmesi ve bu yöntemlerin hastalar üzerindeki etkilerinin incelenmesidir.

🔖

Cite This Article

Erekdağ, A., Yeldan, İ. (2024). Treatment Approaches in Individuals with Facioscapulohumeral Muscular Dystropy: Review Article. Fenerbahçe Üniversitesi Sağlık Bilimleri Dergisi, Cilt: 4 Sayı: 2, 411–422. https://doi.org/10.56061/fbujohs.1453103

📄 Full Text PDF Viewer

📄

PDF görüntüleyici hazırlanıyor...

References (61)

  1. Alshameeri, Z. A., Garg, S., & Wallace, W. A. (2010). Toriginal ARTICLE Scapulothoracic fusion for fascio-scapulo-humeral dystrophy. https://doi.org/10.1111/j.1758-5740.2010.00103.x
  2. Andersen, G., Heje, K., Buch, A. E., & Vissing, J. (2017). High-intensity interval training in facioscapulohumeral muscular dystrophy type 1: a randomized clinical trial. J Neurol, 264(6), 1099-1106. https://doi.org/10.1007/s00415-017-8497-9
  3. Andersen, G., Prahm, K. P., Dahlqvist, J. R., Citirak, G., & Vissing, J. (2015). Aerobic training and postexercise protein in facioscapulohumeral muscular dystrophy: RCT study. Neurology, 85(5), 396-403. https://doi.org/10.1212/wnl.0000000000001808
  4. Anziska, Y., & Sternberg, A. (2013). Exercise in neuromuscular disease. Muscle Nerve, 48(1), 3-20. https://doi.org/10.1002/mus.23771
  5. Bankolé, L. C., Millet, G. Y., Temesi, J., Bachasson, D., Ravelojaona, M., Wuyam, B., Verges, S., Ponsot, E., Antoine, J. C., Kadi, F., & Féasson, L. (2016). Safety and efficacy of a 6-month home-based exercise program in patients with facioscapulohumeral muscular dystrophy: A randomized controlled trial. Medicine (Baltimore), 95(31), e4497. https://doi.org/10.1097/md.0000000000004497
  6. Bergsma, A., Cup, E. H. C., Janssen, M. M. H. P., Geurts, A. C. H., & de Groot, I. J. M. (2017). Upper limb function and activity in people with facioscapulohumeral muscular dystrophy: a web-based survey. Disability and Rehabilitation, 39(3), 236-243. https://doi.org/10.3109/09638288.2016.1140834
  7. Berne, D., Laude, F., Laporte, C., Fardeau, M., & Saillant, G. (2003). Scapulothoracic Arthrodesis in Facioscapulohumeral Muscular Dystrophy. Clinical Orthopaedics and Related Research®, 409. https://journals.lww.com/clinorthop/fulltext/2003/04000/scapulothoracic_arthrodesis_in_facioscapulohumeral.15.aspx
  8. Boileau, P., Pison, A., Wilson, A., van der Meijden, O., Sacconi, S., Trojani, C., & Gauci, M. O. (2020). Bilateral scapulothoracic arthrodesis for facioscapulohumeral muscular dystrophy: function, fusion, and respiratory consequences. J Shoulder Elbow Surg, 29(5), 931-940. https://doi.org/10.1016/j.jse.2019.10.006
  9. Bostock, E. L., O'Dowd, D. N., Payton, C. J., Smith, D., Orme, P., Edwards, B. T., & Morse, C. I. (2019). The Effects of Resistance Exercise Training on Strength and Functional Tasks in Adults With Limb-Girdle, Becker, and Facioscapulohumeral Dystrophies. Front Neurol, 10, 1216. https://doi.org/10.3389/fneur.2019.01216
  10. Colson, S. S., Benchortane, M., Tanant, V., Faghan, J. P., Fournier-Mehouas, M., Benaïm, C., Desnuelle, C., & Sacconi, S. (2010). Neuromuscular electrical stimulation training: a safe and effective treatment for facioscapulohumeral muscular dystrophy patients. Arch Phys Med Rehabil, 91(5), 697-702. https://doi.org/10.1016/j.apmr.2010.01.019
  11. Cooney, A. D., Gill, I., & Stuart, P. R. (2014). The outcome of scapulothoracic arthrodesis using cerclage wires, plates, and allograft for facioscapulohumeral dystrophy. J Shoulder Elbow Surg, 23(1), e8-13. https://doi.org/10.1016/j.jse.2013.04.012
  12. Copeland, S. A., & Howard, R. C. (1978). Thoracoscapular fusion for facioscapulohumeral dystrophy. J Bone Joint Surg Br, 60-b(4), 547-551. https://doi.org/10.1302/0301-620x.60b4.711807
  13. Copeland, S. A., Warner, G. C., & Dodenhoff, R. M. (1999). The shoulder in patients with muscular dystrophy. Clinical Orthopaedics and Related Research®, 368, 80-91.
  14. Demirhan, M., Uysal, O., Atalar, A. C., Kilicoglu, O., & Serdaroglu, P. (2009). Scapulothoracic arthrodesis in facioscapulohumeral dystrophy with multifilament cable. Clin Orthop Relat Res, 467(8), 2090-2097. https://doi.org/10.1007/s11999-009-0815-9
  15. DeSimone, A. M., Pakula, A., Lek, A., & Emerson, C. P., Jr. (2017). Facioscapulohumeral Muscular Dystrophy. Compr Physiol, 7(4), 1229-1279. https://doi.org/10.1002/cphy.c160039
  16. Diab, M., Darras, B. T., & Shapiro, F. (2005). Scapulothoracic fusion for facioscapulohumeral muscular dystrophy. JBJS, 87(10), 2267-2275. https://doi.org/10.2106/JBJS.D.02952
  17. Eagle, M. (2002). Report on the muscular dystrophy campaign workshop: exercise in neuromuscular diseases Newcastle, January 2002. Neuromuscul Disord, 12(10), 975-983. https://doi.org/10.1016/s0960-8966(02)00136-0
  18. Eren, I., Ersen, A., Birsel, O., Atalar, A. C., Oflazer, P., & Demirhan, M. (2020). Functional outcomes and complications following scapulothoracic arthrodesis in patients with facioscapulohumeral dystrophy. JBJS, 102(3), 237-244. https://doi.org/10.2106/JBJS.19.00571
  19. Eren, İ., Erşen, A., Birsel, O., Atalar, A. C., Oflazer, P., & Demirhan, M. (2020). Functional Outcomes and Complications Following Scapulothoracic Arthrodesis in Patients with Facioscapulohumeral Dystrophy. J Bone Joint Surg Am, 102(3), 237-244. https://doi.org/10.2106/jbjs.19.00571
  20. Eren, İ., Gedik, C. C., Kılıç, U., Abay, B., Birsel, O., & Demirhan, M. (2022). Management of scapular dysfunction in facioscapulohumeral muscular dystrophy: the biomechanics of winging, arthrodesis indications, techniques and outcomes. EFORT Open Rev, 7(11), 734-746. https://doi.org/10.1530/eor-22-0080
  21. Essers, J. M. N., Meijer, K., Peters, A. A., & Murgia, A. (2023). The effects of facioscapulohumeral dystrophy and dynamic arm support on upper extremity muscle coordination in functional tasks. Neuromuscul Disord, 33(8), 651-659. https://doi.org/10.1016/j.nmd.2022.11.002
  22. Geng, L. N., Yao, Z., Snider, L., Fong, A. P., Cech, J. N., Young, J. M., van der Maarel, S. M., Ruzzo, W. L., Gentleman, R. C., Tawil, R., & Tapscott, S. J. (2012). DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy. Dev Cell, 22(1), 38-51. https://doi.org/10.1016/j.devcel.2011.11.013
  23. Georgarakis, A.-M., Xiloyannis, M., Dettmers, C., Joebges, M., Wolf, P., & Riener, R. (2021). Reaching higher: External scapula assistance can improve upper limb function in humans with irreversible scapula alata. Journal of NeuroEngineering and Rehabilitation, 18(1), 131. https://doi.org/10.1186/s12984-021-00926-z
  24. Gianola, S., Castellini, G., Pecoraro, V., Monticone, M., Banfi, G., & Moja, L. (2020). Effect of Muscular Exercise on Patients With Muscular Dystrophy: A Systematic Review and Meta-Analysis of the Literature. Front Neurol, 11, 958. https://doi.org/10.3389/fneur.2020.00958
  25. Glenn, R., & Romeo, A. (2005). Scapulothoracic Arthrodesis: Indications and Surgical Technique. Techniques in Shoulder & Elbow Surgery, 6, 178-187. https://doi.org/10.1097/01.bte.0000174701.92629.19
  26. Hamel, J., & Tawil, R. (2018). Facioscapulohumeral Muscular Dystrophy: Update on Pathogenesis and Future Treatments. Neurotherapeutics, 15(4), 863-871. https://doi.org/10.1007/s13311-018-00675-3
  27. Himeda, C. L., & Jones, P. L. (2022). FSHD Therapeutic Strategies: What Will It Take to Get to Clinic? J Pers Med, 12(6). https://doi.org/10.3390/jpm12060865
  28. Iosa, M., Mazzà, C., Frusciante, R., Zok, M., Aprile, I., Ricci, E., & Cappozzo, A. (2007). Mobility assessment of patients with facioscapulohumeral dystrophy. Clin Biomech (Bristol, Avon), 22(10), 1074-1082. https://doi.org/10.1016/j.clinbiomech.2007.07.013
  29. Jones, K., Hawke, F., Newman, J., Miller, J. A., Burns, J., Jakovljevic, D. G., Gorman, G., Turnbull, D. M., & Ramdharry, G. (2021). Interventions for promoting physical activity in people with neuromuscular disease. Cochrane Database Syst Rev, 5(5), Cd013544. https://doi.org/10.1002/14651858.CD013544.pub2
  30. Kalkman, J. S., Schillings, M. L., van der Werf, S. P., Padberg, G. W., Zwarts, M. J., van Engelen, B. G., & Bleijenberg, G. (2005). Experienced fatigue in facioscapulohumeral dystrophy, myotonic dystrophy, and HMSN-I. J Neurol Neurosurg Psychiatry, 76(10), 1406-1409. https://doi.org/10.1136/jnnp.2004.050005
  31. Kilinç, M., Yildirim, S. A., & Tan, E. (2015). The effects of electrical stimulation and exercise therapy in patients with limb girdle muscular dystrophy. A controlled clinical trial. Neurosciences (Riyadh), 20(3), 259-266. https://doi.org/10.17712/nsj.2015.3.201501097
  32. Kord, D., Liu, E., Horner, N. S., Athwal, G. S., Khan, M., & Alolabi, B. (2020). Outcomes of scapulothoracic fusion in facioscapulohumeral muscular dystrophy: A systematic review. Shoulder Elbow, 12(2), 75-90. https://doi.org/10.1177/1758573219866195
  33. Lemmers, R. J., van der Vliet, P. J., Klooster, R., Sacconi, S., Camaño, P., Dauwerse, J. G., Snider, L., Straasheijm, K. R., van Ommen, G. J., Padberg, G. W., Miller, D. G., Tapscott, S. J., Tawil, R., Frants, R. R., & van der Maarel, S. M. (2010). A unifying genetic model for facioscapulohumeral muscular dystrophy. Science, 329(5999), 1650-1653. https://doi.org/10.1126/science.1189044
  34. Leone, E., Pandyan, A., Rogers, A., Kulshrestha, R., Hill, J., & Philp, F. (2024). Effectiveness of conservative non-pharmacological interventions in people with muscular dystrophies: a systematic review and meta-analysis. J Neurol Neurosurg Psychiatry, 95(5), 442-453. https://doi.org/10.1136/jnnp-2023-331988
  35. Letournel, E., Fardeau, M., Lytle, J. O., Serrault, M., & Gosselin, R. A. (1990). Scapulothoracic arthrodesis for patients who have fascioscapulohumeral muscular dystrophy. JBJS, 72(1). https://journals.lww.com/jbjsjournal/fulltext/1990/72010/scapulothoracic_arthrodesis_for_patients_who_have.13.aspx
  36. Lim, J. W., Snider, L., Yao, Z., Tawil, R., Van Der Maarel, S. M., Rigo, F., Bennett, C. F., Filippova, G. N., & Tapscott, S. J. (2015). DICER/AGO-dependent epigenetic silencing of D4Z4 repeats enhanced by exogenous siRNA suggests mechanisms and therapies for FSHD. Hum Mol Genet, 24(17), 4817-4828. https://doi.org/10.1093/hmg/ddv206
  37. Lu, J., Yao, Z., Yang, Y., Zhang, C., Zhang, J., & Zhang, Y. (2019). Management strategies in facioscapulohumeral muscular dystrophy. Intractable & Rare Diseases Research, 8(1), 9-13. https://doi.org/10.5582/irdr.2019.01016
  38. Mul, K., Lassche, S., Voermans, N. C., Padberg, G. W., Horlings, C. G., & van Engelen, B. G. (2016). What's in a name? The clinical features of facioscapulohumeral muscular dystrophy. Pract Neurol, 16(3), 201-207. https://doi.org/10.1136/practneurol-2015-001353
  39. O'Dowd, D. N., Bostock, E. L., Smith, D., Morse, C. I., Orme, P., & Payton, C. J. (2022). The effects of 12 weeks' resistance training on psychological parameters and quality of life in adults with Facioscapulohumeral, Becker, and Limb-girdle dystrophies. Disabil Rehabil, 44(20), 5950-5956. https://doi.org/10.1080/09638288.2021.1955306
  40. Olsen, D. B., Ørngreen, M. C., & Vissing, J. (2005). Aerobic training improves exercise performance in facioscapulohumeral muscular dystrophy. Neurology, 64(6), 1064-1066. https://doi.org/10.1212/01.Wnl.0000150584.45055.27
  41. Orngreen, M. C., Olsen, D. B., & Vissing, J. (2005). Aerobic training in patients with myotonic dystrophy type 1. Ann Neurol, 57(5), 754-757. https://doi.org/10.1002/ana.20460
  42. Orrell, R. W., Copeland, S., & Rose, M. R. (2010). Scapular fixation in muscular dystrophy. Cochrane Database Syst Rev, 2010(1), Cd003278. https://doi.org/10.1002/14651858.CD003278.pub2
  43. Phillips, M., Flemming, N., & Tsintzas, K. (2009). An exploratory study of physical activity and perceived barriers to exercise in ambulant people with neuromuscular disease compared with unaffected controls. Clin Rehabil, 23(8), 746-755. https://doi.org/10.1177/0269215509334838
  44. Price, J. R., Mitchell, E., Tidy, E., & Hunot, V. (2008). Cognitive behaviour therapy for chronic fatigue syndrome in adults. Cochrane Database Syst Rev, 2008(3), Cd001027. https://doi.org/10.1002/14651858.CD001027.pub2
  45. Rhee, Y. G., & Ha, J. H. (2006). Long-term results of scapulothoracic arthrodesis of facioscapulohumeral muscular dystrophy. Journal of Shoulder and Elbow Surgery, 15(4), 445-450. https://doi.org/10.1016/j.jse.2005.10.015
  46. Rijken, N. H., van der Kooi, E. L., Hendriks, J. C., van Asseldonk, R. J., Padberg, G. W., Geurts, A. C., & van Engelen, B. G. (2014). Skeletal muscle imaging in facioscapulohumeral muscular dystrophy, pattern and asymmetry of individual muscle involvement. Neuromuscul Disord, 24(12), 1087-1096. https://doi.org/10.1016/j.nmd.2014.05.012
  47. Savcun Demirci, C., Turgut, E., Ayvat, E., Onursal, Ö., Ayvat, F., Yıldız, T. I., Düzgün, I., Kılınç, M., & Aksu Yıldırım, S. (2018). Kinematic analysis of scapular movements in patients with facioscapulohumeral muscular dystrophy. J Electromyogr Kinesiol, 38, 88-93. https://doi.org/10.1016/j.jelekin.2017.11.007
  48. Tawil, R. (2008). Facioscapulohumeral muscular dystrophy. Neurotherapeutics, 5(4), 601-606. https://doi.org/10.1016/j.nurt.2008.07.005
  49. Tawil, R., Kissel, J. T., Heatwole, C., Pandya, S., Gronseth, G., & Benatar, M. (2015). 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, 85(4), 357-364. https://doi.org/10.1212/wnl.0000000000001783
  50. Theadom, A., Rodrigues, M., Roxburgh, R., Balalla, S., Higgins, C., Bhattacharjee, R., Jones, K., Krishnamurthi, R., & Feigin, V. (2014). Prevalence of muscular dystrophies: a systematic literature review. Neuroepidemiology, 43(3-4), 259-268. https://doi.org/10.1159/000369343
  51. Tihaya, M. S., Mul, K., Balog, J., de Greef, J. C., Tapscott, S. J., Tawil, R., Statland, J. M., & van der Maarel, S. M. (2023). Facioscapulohumeral muscular dystrophy: the road to targeted therapies. Nat Rev Neurol, 19(2), 91-108. https://doi.org/10.1038/s41582-022-00762-2
  52. van der Kooi, E. L., Vogels, O. J., van Asseldonk, R. J., Lindeman, E., Hendriks, J. C., Wohlgemuth, M., van der Maarel, S. M., & Padberg, G. W. (2004). Strength training and albuterol in facioscapulohumeral muscular dystrophy. Neurology, 63(4), 702-708. https://doi.org/10.1212/01.wnl.0000134660.30793.1f
  53. van Overveld, P. G., Lemmers, R. J., Sandkuijl, L. A., Enthoven, L., Winokur, S. T., Bakels, F., Padberg, G. W., van Ommen, G. J., Frants, R. R., & van der Maarel, S. M. (2003). Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy. Nat Genet, 35(4), 315-317. https://doi.org/10.1038/ng1262
  54. Van Tongel, A., Atoun, E., Narvani, A., Sforza, G., Copeland, S., & Levy, O. (2013). Medium to long-term outcome of thoracoscapular arthrodesis with screw fixation for facioscapulohumeral muscular dystrophy. JBJS, 95(15), 1404-1408. https://doi.org/ 10.2106/JBJS.L.01034
  55. Voet, N., Bleijenberg, G., Hendriks, J., de Groot, I., Padberg, G., van Engelen, B., & Geurts, A. (2014). Both aerobic exercise and cognitive-behavioral therapy reduce chronic fatigue in FSHD: an RCT. Neurology, 83(21), 1914-1922. https://doi.org/10.1212/wnl.0000000000001008
  56. Voet, N. B., Bleijenberg, G., Padberg, G. W., van Engelen, B. G., & Geurts, A. C. (2010). 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, 10, 56. https://doi.org/10.1186/1471-2377-10-56
  57. Voet, N. B., van der Kooi, E. L., van Engelen, B. G., & Geurts, A. C. (2019). Strength training and aerobic exercise training for muscle disease. Cochrane Database Syst Rev, 12(12), Cd003907. https://doi.org/10.1002/14651858.CD003907.pub5
  58. Wang, L. H., & Tawil, R. (2016). Facioscapulohumeral Dystrophy. Curr Neurol Neurosci Rep, 16(7), 66. https://doi.org/10.1007/s11910-016-0667-0
  59. Wright, N. C., Kilmer, D. D., McCrory, M. A., Aitkens, S. G., Holcomb, B. J., & Bernauer, E. M. (1996). Aerobic walking in slowly progressive neuromuscular disease: effect of a 12-week program. Arch Phys Med Rehabil, 77(1), 64-69. https://doi.org/10.1016/s0003-9993(96)90222-1
  60. Wulff, J. D., Lin, J. T., & Kepes, J. J. (1982). Inflammatory facioscapulohumeral muscular dystrophy and Coats syndrome. Annals of Neurology: Official Journal of the American Neurological Association and the Child Neurology Society, 12(4), 398-401. https://doi.org/10.1002/ana.410120415
  61. Zupan, A., Gregorič, M., & Valenčic, V. (1995). Long-lasting effects of electrical stimulation upon muscles of patients suffering from progressive muscular dystrophy. Clinical rehabilitation, 9(2), 102-109. https://doi.org/10.1177/026921559500900203