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Spinal Musküler Atrofi: Tanı, Tarama ve Tedavide Güncel Gelişmeler

Year 2023, Volume: 5 Issue: 2, 275 - 287, 26.08.2023

Zeliha Yücel Emine Berrin Yüksel

Abstract

Spinal musküler atrofi (SMA), kranial sinir motor çekirdekleri ve omurilikteki ön boynuz motor nöronların kaybının yol açtığı ilerleyici kas güçsüzlüğü ve atrofisi ile seyreden kalıtsal bir hastalıktır. Otozomal resesif geçiş gösterir ve Survival Motor Nöron 1 (SMN1, MIM *600354) genindeki mutasyonlar sonucu ortaya çıkar. Dünya genelinde SMA görülme sıklığı 10 000 canlı doğumda ~1-3, SMN1 gen mutasyonlarının taşıyıcı sıklığı ise ~1/50’dir. SMA, klinik şiddeti ve hastalık başlangıç yaşına göre beş ayrı fenotip olarak olarak sınıflandırılır. Temel klinik bulgu kas güçsüzlüğü ve atrofisidir. Ülkemizde Sağlık Bakanlığı verilerine göre yaklaşık 3000 SMA hastası izlenmektedir. SMA’nın kalıtımından sorumlu SMN1 geni, 5. kromozomun uzun kolunda, 5q13.2 bölgesinde yer almaktadır. Son on yılda, SMA tanı ve tedavisinde çığır açıcı gelişmeler yaşanmış, erken tanı ve tedavinin hastalık seyrini değiştirdiği izlenmiştir. Erken tanıya yönelik ülkemizde yenidoğan ve evlilik öncesi SMA tarama programları uygulanmaktadır. Günümüzde SMA tedavisinde birçok preklinik ve klinik çalışma halen devam etmekte ve klinik yararlanımı artırmaya yönelik kombine tedavi stratejileri denenmektedir.

Keywords

Spinal musküler atrofi SMN1 geni yenidoğan taraması taşıyıcı taraması SMA tedavisi

Supporting Institution

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Project Number

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Thanks

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Spinal Muscular Atrophy: Current Advances in Diagnosis, Screening and Treatment

Year 2023, Volume: 5 Issue: 2, 275 - 287, 26.08.2023

Zeliha Yücel Emine Berrin Yüksel

Abstract

Project Number

bulunmamaktadır

References

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  • Ando, S., Funato, M., Ohuchi, K., Kameyama, T., Inagaki, S., Seki, J., Kawase, C., Tsuruma, K., Shimazawa, M., Kaneko, H., & Hara, H. (2017). Edaravone is a candidate agent for spinal muscular atrophy: In vitro analysis using a human induced pluripotent stem cells-derived disease model. European Journal of Pharmacology, 814, 161-168. https://doi.org/10.1016/j.ejphar.2017.08.005
  • Andrews, J. A., Miller, T. M., Vijayakumar, V., Stoltz, R., James, J. K., Meng, L., Wolff, A. A., & Malik, F. I. (2018). CK-2127107 amplifies skeletal muscle response to nerve activation in humans. Muscle & Nerve, 57(5), 729-734. https://doi.org/10.1002/mus.26017
  • Bürglen, L., Lefebvre, S., Clermont, O., Burlet, P., Viollet, L., Cruaud, C., Munnich, A., & Melki, J. (1996). Structure and Organization of the Human Survival Motor Neurone (SMN) Gene. Genomics, 32(3), 479-482. https://doi.org/10.1006/geno.1996.0147
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  • EMA. (2021). First oral treatment for spinal muscular atrophy (SMA) recommended for approval. EMA. https://www.ema.europa.eu/en/news/first-oral-treatment-spinal-muscular-atrophy-sma-recommended-approval
  • FDA. (2016). FDA approves first drug for spinal muscular atrophy. U.S. Food and Drug Administration (FDA). https://www.fda.gov/news-events/press-announcements/fda-approves-first-drug-spinal-muscular-atrophy
  • FDA. (2019). FDA approves innovative gene therapy to treat pediatric patients with spinal muscular atrophy, a rare disease and leading genetic cause of infant mortality. FDA. https://www.fda.gov/news-events/press-announcements/fda-approves-innovative-gene-therapy-treat-pediatric-patients-spinal-muscular-atrophy-rare-disease
  • FDA. (2022). FDA Approves Oral Treatment for Spinal Muscular Atrophy. FDA. https://www.fda.gov/drugs/new-drugs-fda-cders-new-molecular-entities-and-new-therapeutic-biological-products/new-drug-therapy-approvals-2022
  • Finkel, R. S. (2013). Electrophysiological and motor function scale association in a pre-symptomatic infant with spinal muscular atrophy type I. Neuromuscular Disorders, 23(2), 112-115. https://doi.org/10.1016/j.nmd.2012.09.006
  • Finkel, R. S., McDermott, M. P., Kaufmann, P., Darras, B. T., Chung, W. K., Sproule, D. M., Kang, P. B., Foley, A. R., Yang, M. L., Martens, W. B., Oskoui, M., Glanzman, A. M., Flickinger, J., Montes, J., Dunaway, S., O’Hagen, J., Quigley, J., Riley, S., Benton, M., … De Vivo, D. C. (2014). Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology, 83(9), 810-817. https://doi.org/10.1212/WNL.0000000000000741
  • Foust, K. D., Wang, X., McGovern, V. L., Braun, L., Bevan, A. K., Haidet, A. M., Le, T. T., Morales, P. R., Rich, M. M., Burghes, A. H. M., & Kaspar, B. K. (2010). RETRACTED ARTICLE: Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN. Nature Biotechnology, 28(3), 271-274. https://doi.org/10.1038/nbt.1610
  • Hahnen, E., Schonling, J., Rudnik-Schoneborn, S., Raschke, H., Zerres, K., & Wirth, B. (1997). Missense Mutations in Exon 6 of the Survival Motor Neuron Gene in Patients with Spinal Muscular Atrophy (SMA). Human Molecular Genetics, 6(5), 821-825. https://doi.org/10.1093/hmg/6.5.821
  • Hamilton, G., & Gillingwater, T. H. (2013). Spinal muscular atrophy: going beyond the motor neuron. Trends in Molecular Medicine, 19(1), 40-50. https://doi.org/10.1016/j.molmed.2012.11.002
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There are 53 citations in total.

Details

Primary Language Turkish
Subjects Health Care Administration
Journal Section Derlemeler
Authors

Zeliha Yücel 0000-0002-2303-9704

Emine Berrin Yüksel 0000-0001-7107-1939

Project Number bulunmamaktadır
Early Pub Date August 26, 2023
Publication Date August 26, 2023
Submission Date March 2, 2023
Acceptance Date May 26, 2023
Published in Issue Year 2023 Volume: 5 Issue: 2

Cite

APA Yücel, Z., & Yüksel, E. B. (2023). Spinal Musküler Atrofi: Tanı, Tarama ve Tedavide Güncel Gelişmeler. Genel Sağlık Bilimleri Dergisi, 5(2), 275-287.
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