Title LIJEČENJE RANE FAZE MIŠIĆNE DISTROFIJE Title (english) TREATMENT OF EARLY PHASE MUSCULAR DYSTROPHY Author Ivan Kurkutović Mentor Slavica Janković (mentor)Committee member Gordana Bujišić (predsjednik povjerenstva) Committee member Slavica Janković (član povjerenstva)Committee member Josip Šubarić (član povjerenstva) Granter College of Applied Sciences "Lavoslav Ružička" in Vukovar Defense date and country 2019-07-11, Croatia Scientific / art field, BIOMEDICINE AND HEALTHCARE Abstract Duchenneova mišićna distrofija najčešći je oblik nasljedne mišićne distrofije, koji se nasljeđuje autosomno recesivno, vezano uz X-kromosom. Uglavnom se pojavljuje u muške djece. Duchenneova mišićna distrofija spada u skupinu distrofinopatija jer je povezana s mutacijama gena za distrofin. Bolest dovodi do propadanja poprečnoprugastih mišića. Bolest se najčešće dijagnosticira kad dijete ne prohoda na vrijeme. Dječaci ne mogu slijediti svoje vršnjake tijekom igre, otežano se penju uz stube i često padaju. Također, teže se ustaju sa poda, otežano hodaju, gegaju se u hodu, otežano trče i ne skaču normalno. Uz utvrđivanje mišićne slabosti i gubitka mišićne mase te provedene anamneze, od dijagnostičkih postupaka, može se koristiti elektromiografija, biopsija, laboratorijsko testiranje, ultrazvučna dijagnostika kao i genska analiza. Podaci, dobiveni primjenom SOAP modela fizioterapijske procjene, analiziraju se za izvođenje. Rezultati analize podataka trebaju biti u korelaciji s trenutnim kliničkim istraživanjima. Oni trebaju pomoći u definiranju ciljanih terapijskih vježbi kako bi se unaprijedila funkcija mišića i funkcionalna sposobnost oboljelih dječaka. Dobivene podatke, fizioterapijskom procjenom na početku te kroz cjelokupni tretman, potrebno je dokumentirati kako bi se uvidjelo je li se stanje poboljšava ili pogoršava. Vježbe se trebaju provoditi individualno, uz potrebu kontinuirane evaluacije. Na bolest se ne može utjecati kauzalno, te se primjenjuje simptomatsko liječenje. Osim potrebne potporne njege te pravilne prehrane, potrebno je provoditi fizikalnu i radnu terapiju, uz odgovarajuće farmakološko liječenje. Kako dolazi do progresije bolesti, pokretanje se održava uz pomoć pomagala, ali i kirurških zahvata. Važno je genetičko savjetovanje, pošto je bolest nasljedna. Također, preporučuje se bavljenje sportom. Cilj rada je prikazati dosadašnje mogućnosti liječenja Duchenneove mišićne distrofije uz prikaz slučaja dječaka kako se umjerenom tjelovježbom može održati i poboljšati zdravstveno stanje oboljelih dječaka, što argumentiraju rezultati fizioterapijske procjene.
Abstract (english) Duchenne muscular dystrophy is the most common form of inherited muscular dystrophy, which is autosomal recessive inherited, in relation with X-chromosome. It mainly occurs in male children. Duchenne muscular dystrophy is a dystrophinopathy because it is associated with mutations of dystrophin genes. Disease leads to the loss of the transverse muscle. This disease is most commonly diagnosed when a child does not begin to walkin expected time period. Boys can not follow their peers during play time, they have difficulties climbing up the stairs and they often fall. Furthermore, they have difficulties getting up, walking, they limp, run hard, and do not leap normally. In addition to determining muscular weakness, muscle loss and anamnesis, electromyography, biopsy, laboratory testing, ultrasound diagnostics as well as gene analysis can be used in diagnosis. Data obtained by using a SOAP model of physiotherapeutic evaluation is analyzed for performance. Results of the analysis of the data should be in correlation with current medical research. They should help in defining targeted therapeutic exercises to improve muscle function and functional ability of diseased boys. The data obtained by physiotherapy at the beginning and throughout the treatment should be documented to see if the condition improves or aggravates. Exercises should be conducted individually, with the need for continuous evaluation. The disease can not be affected causally, therefore symptomatic treatment is applied. In addition to the necessary supportive care and proper nutrition, physical and occupational therapy should be carried out, with appropriate pharmacological treatment. As the disease progresses, movement is maintained with the help of aids as well as surgical procedures. Genetic counseling is important, as the disease is inheritable. Also, it is recommended to practice sports. The aim of the paper is to present possibilities of treating Duchenne's muscular dystrophy with a view of a boy's case where moderat, which is corroborated by results of the physiotherapeutic assessment.
Keywords
Duchenneova mišićna distrofija
Keywords (english)
Duchenne muscular dystrophy
Language croatian URN:NBN urn:nbn:hr:150:102776 Study programme Title: Physiotherapy Type of resource Text File origin Born digital Access conditions Access restricted to students and staff of home institution Terms of use Created on 2019-07-15 09:00:42
