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Treatment Approaches in Individuals with Facioscapulohumeral Muscular Dystropy: Review Article

Yıl 2024, Cilt: 4 Sayı: 2, 411 - 422, 26.08.2024
https://doi.org/10.56061/fbujohs.1453103

Öz

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.

Kaynakça

  • 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
  • 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
  • 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
  • Anziska, Y., & Sternberg, A. (2013). Exercise in neuromuscular disease. Muscle Nerve, 48(1), 3-20. https://doi.org/10.1002/mus.23771
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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.
  • 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
  • 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
  • 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
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Fasyoskapulohumeral Musküler Distrofili Bireylerde Tedavi Yaklaşımları: Derleme Makalesi

Yıl 2024, Cilt: 4 Sayı: 2, 411 - 422, 26.08.2024
https://doi.org/10.56061/fbujohs.1453103

Öz

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.

Kaynakça

  • 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
  • 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
  • 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
  • Anziska, Y., & Sternberg, A. (2013). Exercise in neuromuscular disease. Muscle Nerve, 48(1), 3-20. https://doi.org/10.1002/mus.23771
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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.
  • 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
  • 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
  • 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
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  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • Tawil, R. (2008). Facioscapulohumeral muscular dystrophy. Neurotherapeutics, 5(4), 601-606. https://doi.org/10.1016/j.nurt.2008.07.005
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • 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
  • Wang, L. H., & Tawil, R. (2016). Facioscapulohumeral Dystrophy. Curr Neurol Neurosci Rep, 16(7), 66. https://doi.org/10.1007/s11910-016-0667-0
  • 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
  • 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
  • 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
Toplam 61 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Konular Fizyoterapi
Bölüm Derlemeler
Yazarlar

Ayşenur Erekdağ 0000-0002-4536-5519

İpek Yeldan 0000-0002-6344-4157

Yayımlanma Tarihi 26 Ağustos 2024
Gönderilme Tarihi 15 Mart 2024
Kabul Tarihi 1 Ağustos 2024
Yayımlandığı Sayı Yıl 2024 Cilt: 4 Sayı: 2

Kaynak Göster

APA Erekdağ, A., & Yeldan, İ. (2024). Fasyoskapulohumeral Musküler Distrofili Bireylerde Tedavi Yaklaşımları: Derleme Makalesi. Fenerbahçe University Journal of Health Sciences, 4(2), 411-422. https://doi.org/10.56061/fbujohs.1453103