Vloga ortotika in protetika pri opremi pacienta s spinalno mišično atrofijo tip II s pripomočki : diplomsko delo

Grm, Jan (avtor), Moharić, Metka (mentor), Divjak, Mojca (komentor)

Uvod: Živčno-mišične bolezni so heterogena skupina dednih bolezni motorične enote. Skupni in poglavitni klinični znak je mišična šibkost skupaj z mišičnimi atrofijami in hipotonijo. Spinalna mišična atrofija je nevro-degenerativna bolezen, ki zahteva multidisciplinarno obravnavo. Pri tej bolezni gre za postopno propadanje mišičnih vlaken, kar najbolj prizadene mišice, ki sodelujejo pri plezanju, hoji, drži vratu in glave ter požiranju. Šibkost mišic oziroma ohromelost je večinoma pogostejša v zgornjih kot spodnjih udih. Je najpogostejši genetski vzrok smrtnosti dojenčkov in se pojavlja pri približno enem od 10.000 živorojenih. Namen: Namen diplomskega dela je predstaviti spinalno mišično atrofijo kot redko živčno mišično bolezen, ki se pojavlja tudi v Sloveniji, opisati težave na področju funkcioniranja, s katerimi se srečujejo pacienti s SMA tip II, ter predstaviti poklic ortotika in protetika in njegovo vlogo pri izbiri pripomočkov. Metode dela: S pregledom literature smo pridobili podatke za opis bolezni. Za iskanje primerne literature smo uporabili svetovni splet, in sicer iskalnik Google, prek katerega smo dostopali do različnih prispevkov in drugih strokovnih revij ali uradnih strani zdravstvenih in socialnih organizacij, ter podatkovne baze, kot so Google učenjak, Cobiss, MEDLINE, PubMed. Podatke iz člankov smo nato ustrezno povzeli. Za predstavitev pacienta in njegovih potreb smo pregledali njegovo zdravstveno dokumentacijo, opravili pogovor s starši ter uporabili lastne izkušnje. Rezultate smo predstavili s pomočjo ocene po Mednarodni klasifikaciji funkcioniranja, zmanjšanjih zmožnosti in zdravja. Rezultati: Na 62 področjih dejavnosti in sodelovanja je imel pacient težave. Na več kot 17 področjih je ortotik in protetik težave pomagal rešiti z medicinskimi pripomočki; ostale težave so reševali starši in njegov spremljevalec. Razprava in zaključek: Z Mednarodno klasifikacijo funkcioniranja, zmanjšane zmožnosti in zdravja lahko ortotik in protetik lažje in bolj kakovostno določa izbiro medicinskih pripomočkov pacientu z živčno-mišično boleznijo. Mednarodna klasifikacija funkcioniranja, zmanjšane zmožnosti in zdravja bi lahko v bodoče postala temeljno orodje v rokah ortotika in protetika pri reševanju težav tovrstnih bolnikov.

• Jezik: Slovenski jezik
• Ključne besede: spinalna mišična atrofija, atrofija mišic, živčno-mišične bolezni, mišična obolenja
• Vrsta gradiva: Diplomsko delo/naloga
• Organizacija: ZF - Zdravstvena fakulteta
• Leto izida: 2019
• PID: 20.500.12556/RUL-107477
• COBISS.SI-ID: 5609579
• Datum objave v RUL: 18.04.2019

GRM, Jan, 2019, Vloga ortotika in protetika pri opremi pacienta s spinalno mišično atrofijo tip II s pripomočki : diplomsko delo [na spletu]. Diplomsko delo. [Dostopano 19 maj 2025]. Pridobljeno s: https://repozitorij.uni-lj.si/IzpisGradiva.php?lang=slv&id=107477

Sekundarni jezik

• Jezik: Angleški jezik
• Naslov: The roll of an orthotist and a prosthetist in the patient´s equipment with spinal muscular atrophy type II with the accessories : bachelor's thesis

Izvleček

Introduction: Nervous-muscular diseases are a heterogeneous group of hereditary diseases of a motor unit. The common and major clinical sign is muscle weakness, together with muscular atrophy and hypotonia. Spinal muscular atrophy is a neuro-degenerative disease requiring multidisciplinary treatment. This disease involves a gradual decay of muscle fibers. Muscles involved in climbing, walking, holding neck and head and swallowing are the most affected. Muscle weakness or paralysis is generally more common in the upper than in the lower limbs. It is the most common genetic cause of infant mortality and occurs in approximately one in 10,000 live births. Purpose: The purpose of the thesis is to present spinal muscular atrophy as a rare nervous muscular disease which also occurs in Slovenia, to describe problems in the functioning of patients with SMA type II and present the profession of orthotics and prosthetics and its role in the choice of gadgets. Methods: By reviewing the literature, we obtained data for the description of the disease. We used the World Wide Web to find suitable literature, namely the Google search engine through which we accessed various contributions and other journals or official sites of health and social organizations and databases, such as: Google scholar, Cobiss, MEDLINE, and PubMed. Then, we summarized the data from the articles. To present the patient and his needs, we reviewed his medical records, had a conversation with his parents, and used their own experiences. We presented the results with the help of the estimation by International Classification of Functioning, Disability and Health Reduction. Results: In 62 areas of Activity and Collaboration, the patient had problems. In more than 17 areas, the Orthotic and prosthetics helped solve problems with medical devices. Other problems were solved by parents and his companion of a physically disabled child. Discussion and conclusion: The orthotics and prosthetics can more easily and better determine the choice of medical devices to the patient with neuromuscular disease with the International Classification of Functioning, Disability and Health Reduction. The International Classification of Functioning, Disability and Health Reduction could become a fundamental tool in the hands of orthotics and prosthetics in solving the problems of such patients in future.

• Ključne besede: spinal muscle atrophy, muscle atrophy, neuromuscular diseases, muscular disease