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Title:Fizioterapevtska obravnava pacientov s Friedreichovo ataksijo : diplomsko delo visokošolskega strokovnega študijskega programa prve bolonjske stopnje Fizioterapija
Authors:ID Udir, Sabrina (Author)
ID Hernja Rumpf, Tadeja (Mentor) More about this mentor... New window
Files:.pdf DIP_Udir_Sabrina_2024.pdf (5,69 KB)
MD5: FC4FCF613AD4EBFA922DFDEABE5928E3
 
Language:Slovenian
Work type:Bachelor thesis/paper
Typology:2.11 - Undergraduate Thesis
Organization:UAMEU - Alma Mater Europaea University
Abstract:Teoretična izhodišča: Friedreichova ataksija je redka dedna in progresivno nevrodegenerativna oblika ataksije, za katero zboli približno 1 izmed 29 000 oziroma 1 izmed 50 000. Je najbolj pogosta dedna ataksija. Za bolezen je kriva okvara ali mutacija gena z oznako FXN. Bolezen se prenaša avtosomno recesivno. Njena patologija še ni povsem znana. Za ocenjevanje stanja in napredovanja bolezni se uporabljajo različne nevrološke ocenjevalne lestvice. Namen: Namen diplomskega dela je bil na podlagi pregleda strokovne in znanstvene literature ugotoviti, ali lahko z različnimi fizioterapevtskimi metodami in tehnikami vplivamo na hitrost poteka Friedreichove ataksije ter katere fizioterapevtske metode in tehnike so najučinkovitejše pri fizioterapevtski obravnavi te bolezni. Metode dela: V empiričnem delu diplomskega dela smo uporabili kvalitativno metodo – pregled znanstvene literature. Iskali smo v bazah PubMed, ScienceDirect in Google učenjak. Za iskanje smo uporabili ključne besede: Friedreichova ataksija (angl. Friedreich's ataxia), fizioterapija IN Friedreichova ataksija (angl. physiotherapy AND Friedreich's ataxia), Friedreichova ataksija IN rehabilitacija (angl. Friedreich's ataxia AND rehabilitation). Vključili smo raziskave v angleškem jeziku, ki so bile mlajše od 10 let in so vsebinsko ustrezale našemu iskanju. Rezultati: Našli smo zgolj manjše število raziskav, saj gre za še ne v celoti raziskano področje. V končno analizo smo vključili štiri raziskave, ki se vse nanašajo na fizioterapevtsko obravnavo pacientov s Friedreichovo ataksijo. Razprava: Vse raziskave so pokazale pozitivne učinke fizioterapevtske rehabilitacije pri pacientih s to boleznijo. Razlikovale v metodah merjenja napredka in v fizioterapevtskih metodah. Zaradi manjšega vzorca najdenih raziskav rezultatov ne moremo posplošiti na celotno populacijo. Nadaljnje raziskave so potrebne za natančno določitev najbolj uspešnih fizioterapevtskih metod pri rehabilitaciji Friedreichove ataksije.
Keywords:Friedreichova ataksija, fizioterapevtska rehabilitacija, učinki rehabilitacije
Place of publishing:Maribor
Place of performance:Maribor
Publisher:S. Udir
Year of publishing:2024
Year of performance:2024
Number of pages:[6] f., 45 str.
PID:20.500.12556/ReVIS-11224 New window
COBISS.SI-ID:219653379 New window
UDC:615.8(043.2)
Publication date in ReVIS:18.12.2024
Views:161
Downloads:6
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Secondary language

Language:English
Abstract:Theoretical background: Friedreich's ataxia is a rare hereditary and progressive neurodegenerative form of ataxia, which affects approximately 1 in 29,000 or 1 in 50,000. It is the most common hereditary ataxia. The disease is caused by a defect or a mutation in the gene called FXN. The disease is transmitted in an autosomal recessive manner. The disease was first described by Nikolaus Friedreich. Its pathology is not yet fully known, but we know that it is associated with a lack of the frataxin protein. Various neurological assessment scales are used to assess the condition and progression of the disease, some of which have been developed specifically for the assessment of Friedreich's ataxia. Purpose: The purpose of this thesis was to determine, based on a review of professional and scientific literature, whether we can influence the speed of progression of Friedreich's ataxia with various physiotherapeutic methods and techniques, and which physiotherapeutic methods and techniques are the most effective in the physiotherapeutic treatment of this disease. Methodology: In the empirical part of the thesis, we used a qualitative method – a review of scientific literature. PubMed and ScienceDirect databases were searched. We used the following keywords for the search: Friedreich's ataxia, physiotherapy AND Friedreich's ataxia, Friedreich's ataxia AND rehabilitation. We included studies in the English language that was less than 10 years old and matched our search in terms of content. Results: we found only a small number of studies, as it is an area that has not yet been fully explored. In the final analysis, we included 4 studies, all of which refer to the physiotherapy treatment of patients with Friedreich's ataxia. Discussion: All research has shown the positive effects of physiotherapy rehabilitation on patients with this disease. The studies differed in the methods of measuring progress and in the physiotherapy methods. Due to the small sample of research found, we cannot generalize the results to the entire population. Further research is needed to precisely determine the most successful physiotherapy methods in the rehabilitation of Friedreich's ataxia.
Keywords:Friedreich's ataxia, physiotherapy rehabilitation, effects of rehabilitation


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