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undergraduate thesis
Spinalna mišićna atrofija
2024. urn:nbn:hr:166:600856
Rajič, Maja
University of Split
Faculty of Science
Department of Biology

Cite this document

Rajič, M. (2024). Spinalna mišićna atrofija (Undergraduate thesis). Split: University of Split, Faculty of Science. Retrieved from https://urn.nsk.hr/urn:nbn:hr:166:600856

Rajič, Maja. "Spinalna mišićna atrofija." Undergraduate thesis, University of Split, Faculty of Science, 2024. https://urn.nsk.hr/urn:nbn:hr:166:600856

Rajič, Maja. "Spinalna mišićna atrofija." Undergraduate thesis, University of Split, Faculty of Science, 2024. https://urn.nsk.hr/urn:nbn:hr:166:600856

Rajič, M. (2024). 'Spinalna mišićna atrofija', Undergraduate thesis, University of Split, Faculty of Science, accessed 22 January 2025, https://urn.nsk.hr/urn:nbn:hr:166:600856

Rajič M. Spinalna mišićna atrofija [Undergraduate thesis]. Split: University of Split, Faculty of Science; 2024 [cited 2025 January 22] Available at: https://urn.nsk.hr/urn:nbn:hr:166:600856

M. Rajič, "Spinalna mišićna atrofija", Undergraduate thesis, University of Split, Faculty of Science, Split, 2024. Available at: https://urn.nsk.hr/urn:nbn:hr:166:600856

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Metadata
TitleSpinalna mišićna atrofija
Title (english)Spinal muscular atrophy
AuthorMaja Rajič
MentorJasna Puizina (mentor)
Committee memberJasna Puizina (predsjednik povjerenstva)
Committee memberŽeljana Fredotović (član povjerenstva)
Committee memberMarija Nazlić (član povjerenstva)
GranterUniversity of Split
Faculty of Science
(Department of Biology)
Split
Defense date and country2024-09-17, Croatia
Scientific / art field,
discipline and subdiscipline		NATURAL SCIENCES
Biology
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Abstract
Spinalna mišićna atrofija je skupina nasljednih bolesti karakteriziranih propadanjem alfa motoričkih neurona u kralježničnoj moždini. Rad se fokusira na genetsku osnovu bolesti te osobito na ulogu gena SMN1 i SMN2. Razmatraju se različiti tipovi spinalne mišićne atrofije, dijagonstičke metode, komplikacije te različite terapijske opcije. Suvremene terapijske metode uključuju farmakološku terapiju, gensku terapiju i terapiju matičnim stanicama. Posebna pozornost posvećena je lijekovima poput nusinersena i risdiplama te genskoj terapiji koji su značajno promijenili pristup liječenju. Rad naglašava važnost rane dijagnoze i multidisciplinarnog pristupa liječenju kako bi se poboljšala kvaliteta života pacijenata.
Abstract (english)
Spinal muscular atrophy (SMA) is a group of hereditary diseases characterized by the degeneration of alpha motor neurons in the spinal cord. This paper focuses on the genetic basis of the disease, particularly the role of the SMN1 and SMN2 genes. It discusses the different types of spinal muscular atrophy, diagnostic methods, complications, and various therapeutic options. Modern therapeutic approaches include pharmacological therapy, gene therapy, and stem cell therapy. Special attention is given to drugs such as nusinersen and risdiplam, as well as gene therapy, which have significantly changed the approach to treatment. The paper emphasizes the importance of early diagnosis and a multidisciplinary approach to treatment to improve the quality of life for patients.
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:166:600856
Study programmeTitle: Biology and Chemistry
Study programme type: university
Study level: undergraduate
Academic / professional title: sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) biologije i kemije (sveučilišni/a prvostupnik/prvostupnica (baccalaureus/baccalaurea) biologije i kemije)
Type of resourceText
File originBorn digital
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2024-09-20 11:55:20