Duchenne Musküler Distrofi ve Elektrik Stimülasyonu

Yıl 2022, , 1644 - 1653, 22.12.2022

Büşra Yener , Ahmet Faruk Alıkma , Didem Gündüz , Hasan Zeren , Kader Kurban , Melisa Akdıkan , Sena Nur Alpaslan , Sinem Özgül , Tülay Çevik Saldıran

https://doi.org/10.37989/gumussagbil.1180975

Öz

Duchenne Musküler Distrofi (DMD), X kromozomuna bağlı resesif geçiş gösteren ve yaklaşık 1/3600-6000 canlı erkek doğum prevelansı olan genetik bir hastalıktır. DMD esas olarak erkek çocukları etkileyen, ilerleyici kas zayıflığı ile karakterize, kadınların taşıyıcı olup genellikle asemptomatik veya hafif belirti gösterdiği çocukluk çağında en sık görülen musküler distrofi tipidir. Tedavi konusunda günümüzde güncel klinik araştırmalar ile büyük bir yol kat edilmiş olsa da hastalığı tamamen tedavi eden herhangi bir yöntem henüz bildirilmemiştir. Nöromusküler hastalıklarda fizyoterapi ve rehabilitasyon programı kapsamında elektrik stimülasyonu kullanılmaktadır fakat genetik defektin varlığı ve uygulamalar sonrası oluşabilecek yorgunluk ve dejenerasyon konusunda literatürde az sayıda çalışma ve farklı görüşler bulunmaktadır. Bu derlemenin amacı DMD ve elektrik stimülasyonuyla ilgili yapılan çalışmaları bir araya getirmektir.

Anahtar Kelimeler

Duchenne Muskuler Distrofi, Nöromusküler Hastalık, Elektirik Stimülasyonu

Duchenne Muscular Dystrophy and Electrical Stimulation

Öz

Duchenne Muscular Dystrophy (DMD) is an X-linked recessive genetic disease with a prevalence of approximately 1/3600-6000 live in male births. It is the most common type of muscular dystrophy in childhood and characterized by progressive muscle weakness. DMD mainly affects boys, women are just genetic carriers and they are usually asymptomatic or have mild symptoms. Although a great deal of progress has been made with current clinical studies on treatment, no method that completely cures the disease has yet been reported. Electrical stimulation is used within the scope of physiotherapy and rehabilitation programs in neuromuscular diseases, but there are few studies and different opinions in the literature about the presence of genetic defects and fatigue, and disinsection that may occur after the applications. The purpose of this review is to bring together studies on DMD and electrical stimulation.

Anahtar Kelimeler

Duchenne Muscular Dystrophy, Neuromuscular Disease, Electrical Stimulation

Kaynakça

• 1. Bushby, K., Finkel, R., Birnkrant, D.J., Case, L.E., Clemens, P.R., Cripe, L., Kaul, A., Kinnett, K., McDonald, C., Pandya, S. (2010) “Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management” The Lancet Neurology 9 (1):77-93
• 2. Grady, R.M., Grange, R.W., Lau, K.S., Maimone, M.M., Nichol, M.C., Stull, J.T, Sanes, J.R. (1999) “Role for α-dystrobrevin in the pathogenesis of dystrophin-dependent muscular dystrophies” Nature Cell Biology 1 (4):215-220
• 3. Muntoni, F., Torelli, S., Ferlini, A. (2003) “Dystrophin and mutations: one gene, several proteins, multiple phenotypes” The Lancet Neurology 2 (12):731-740
• 4. Bushby, K., Finkel, R., Birnkrant, D.J., Case, L.E., Clemens, P.R., Cripe, L., Kaul, A., Kinnett, K., McDonald, C., Pandya, S. (2010) “Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care” The Lancet Neurology 9 (2):177-189
• 5. Merlini, L., Cicognani, A., Malaspina, E., Gennari, M., Gnudi, S., Talim, B., Franzoni, E. (2003) “Early prednisone treatment in Duchenne muscular dystrophy” Muscle & Nerve: Official Journal of the American Association of Electrodiagnostic Medicine 27 (2):222-227
• 6. Annexstad, E.J., Lund-Petersen, I., Rasmussen, M. (2014) “Duchenne muscular dystrophy” Tidsskrift for Den Norske Legeforening
• 7. Lacourpaille, L., Gross, R., Hug, F., Guével, A., Péréon, Y., Magot, A., Hogrel, J-Y., Nordez, A. (2017) “Effects of Duchenne muscular dystrophy on muscle stiffness and response to electrically-induced muscle contraction: a 12-month follow-up”. Neuromuscular Disorders 27 (3):214-22
• 8. Lacourpaille, L., Hug, F., Guével, A., Péréon ,Y., Magot, A., Hogrel, J-Y., Nordez, A. (2014) “New insights on contraction efficiency in patients with Duchenne muscular dystrophy” Journal of Applied Physiology 117 (6):658-662
• 9. Gregory, C.M., Williams, R.H., Vandenborne, K., Dudley, G.A. (2005) “Metabolic and phenotypic characteristics of human skeletal muscle fibers as predictors of glycogen utilization during electrical stimulation” European Journal of Applied Physiology 95 (4):276-282
• 10. Valladares, D,, Almarza, G., Contreras, A., Pavez, M., Buvinic, S., Jaimovich, E,, Casas, M. (2013) “Electrical stimuli are anti-apoptotic in skeletal muscle via extracellular ATP. Alteration of this signal in Mdx mice is a likely cause of dystrophy” PLoS One 8 (11):e75340
• 11. Reiser, P.J., Kline, W.O., Vaghy, P.L. (1997) “Induction of neuronal type nitric oxide synthase in skeletal muscle by chronic electrical stimulation in vivo” Journal of Applied Physiology 82 (4):1250-1255
• 12. Barnard, E., Barnard, P., Jarvis, J., Lai, J. (1984) “Low-Frequency Stımulatıon Invıvo Of Chıck Fast-Twıtch Muscle” In: Journal Of Physıology-London, Vol Jun. Cambrıdge Unıv Press 40 West 20th Street, New York, 10011-4211, pp P37-P37
• 13. Reichmann, H., Pette, D., Vrbová, G. (1981) “Effects of low frequency electrical stimulation on enzyme and isozyme patterns of dystrophic mouse muscle” FEBS Lett 128 (1):55-58
• 14. 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
• 15. Luthert, P., Vrbova, G., Ward, K. (1980) “Effects of slow frequency electrical stimulation on muscles of dystrophic mice” Journal of Neurology, Neurosurgery & Psychiatry 43 (9):803-809
• 16. Zupan, A. (1992) “Long‐term electrical stimulation of muscles in children with duchenne and becker muscular dystrophy” Muscle & Nerve: Official Journal of the American Association of Electrodiagnostic Medicine 15 (3):362-367
• 17. Scott, O., Vrbova, G., Hyde, S., Dubowitz, V. (1986) “Responses of muscles of patients with Duchenne muscular dystrophy to chronic electrical stimulation” Journal of Neurology, Neurosurgery & Psychiatry 49 (12):1427-1434
• 18. Scott, O., Hyde, S., Vrbova, G., Dubowitz, V. (1990) “Therapeutic possibilities of chronic low frequency electrical stimulation in children with Duchenne muscular dystrophy” Journal of The Neurological Sciences 95 (2):171-182.
• 19. Aras, Ö., Karaduman, A., Yılmaz, Ö., Başoğlu, B. (2005) “Nöromusküler hastalıklarda elektrik stimülasyonunun kas kuvveti üzerine etkisinin incelenmesi” Fizyoterapi Rehabilitasyon 16 (2):45-50
• 20. Distefano, G., Ferrari, R.J., Weiss, C., Deasy, B.M., Boninger, M.L., Fitzgerald, G.K., Huard, J., Ambrosio, F. (2013) “Neuromuscular electrical stimulation as a method to maximize the beneficial effects of muscle stem cells transplanted into dystrophic skeletal muscle” PloS One 8 (3):e54922
• 21. Milner-Brown, H., Miller, R. (1988) “Muscle strengthening through electric stimulation combined with low-resistance weights in patients with neuromuscular disorders” Archives of Physical Medicine and Rehabilitation 69 (1):20-24
• 22. Cudia, P., Weis, L., Baba, A., Kiper, P., Marcante, A., Rossi, S., Angelini, C., Piccione, F. (2016) “Effects of functional electrical stimulation lower extremity training in myotonic dystrophy type I: a pilot controlled study” American Journal of Physical Medicine & Rehabilitation 95 (11):809-817
• 23. Kılınç, M., Yıldırım, 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 Journal 20(3), 259-266.
• 24. 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” Archives of Physical Medicine And Rehabilitation 91 (5):697-702
• 25. Doix, A-C.M., Roeleveld, K., Garcia, J., Lahaut, P., Tanant, V., Fournier-Mehouas, M., Desnuelle, C., Colson, S.S., Sacconi, S. (2017) “Short-TERM neuromuscular electrical stimulation training of the tibialis anterior did not improve strength and motor function in facioscapulohumeral muscular dystrophy patients” American Journal of Physical Medicine & Rehabilitation 96 (4):E56-E63