Duchenne myopathy - isifo isimiso sezinzwa.

Izifo ezithile zesimiso sezinzwa bebelokhu kubhekwa phakathi ukwelashwa eziyinkimbinkimbi kakhulu futhi kunzima-to-izidakamizwa kwezimiso sokugembula. Lokhu kungenxa yokuthi isimiso sezinzwa yilona hlaka eziphambili kakhulu futhi umahluko kakhulu zomzimba womuntu, amaseli zazo cishe abakwazi lokuzelapha. Uma kukhona ukubhujiswa izinzwa fibre olulodwa, lesi simanga awushintsheki ngokuphelele. Waba yini umphumela walesi inqubo kuyoholela ekulahlekelweni unomphela amakhono ukusebenza esifundeni yokwakheka, okuyiwona izinzwa ukuhlangabezana alahlekile. iziyaluyalu eziningi zezinzwa zibangelwa ukukhubazeka kwezakhi zofuzo ezingase zidlulele ezizukulwaneni ngezizukulwane.

Isibonelo esivelele isimo sokugembula kubangelwa myopathy lokuyithola njengefa Duchenne. isifo okunjalo idluliselwa i autosomal esikhubazayo ukuphendula zenani elikhulu eziyifa kanye sibonakala ngokwengeziwe phakathi kwabantu besilisa kakhulu kule planethi yethu. Iqiniso yokugcina kungenxa yokuthi ifa ixhunyaniswe chromosome ocansini. Ngesikhathi isifo senhliziyo Inesici isakhi sofuzo esiyimbangela yalesi ezibalulekile synthesis dystrophin amaprotheni, okuyinto ehilelekile kulondolozwe isakhiwo yokwakheka fibre kwemisipha. Ngenxa yokuntuleka ijwabu amaprotheni dystrophin imisipha asitholayo uchungechunge izinguquko ngenxa lapho imisipha esikhundleni izicubu fibrous futhi okunamafutha, ngamanye amazwi, ngeke yoma. Ngenxa yokuthi i-myopathy Duchenne sitholwa njengefa, uqala ukuvela kudala njengoba esewusana. Abazali silalela lokho ingane yabo amathayi kalula kusukela ukuzikhandla kancane emzimbeni, kuba evilaphayo, maduze kungashintsha Gait futhi sikhubazekile ithambo skeleton.

Ngemva kwalokho inqubo sokugembula iqhubeka kuphela kusukela singaphansi ngokuphelele yonke imisipha yomzimba womuntu. Ngenxa yalesi zokugula libhekene myopathy iso. imisipha eminingi nemilenze abathintekayo, esifubeni, inhliziyo. Lapho ukuzibandakanya esivimba amanzi, kukhona zenhliziyo yesibili, ephukile inhliziyo isigqi. Ngokuvamile kuba zokugula we esimiso senhliziyo nemithambo yegazi is imbangela eyinhloko yokufa iziguli kwathiwa unesifo Duchenne myopathy. izindlela Radical ukwelapha lesi sifo akukakabi khona. Isimiso eyisisekelo ukwelashwa - ukwenza ngcono izinga nokwelulwa yokuphila komuntu.

Myopathy Duchenne kungaba inzuzo isikhathi eside ngokuthola imithi ngama-corticosteroid. Ngokwesilinganiso, isiguli nsuku zonke kudingeka mayelana 800 mg prednisolone amakhilogramu esisindo ngayinye. Ezigabeni zokuqala kuphumelela kakhulu amaprotheni izakhiwo ngokuqukethwe okusezingeni eliphezulu amino acid, ama steroid, okungukuthi zonke ezingase ukufukula kwemisipha. Ukwelapha liyadingeka ukufaka L-carnitine, izidakamizwa vasoactive, amavithamini (B1, B6, B12, njll) stimulators Biogenic (Aloe), i-alpha-lipoic acid, izinto kusukela iqembu Antioxidants. Esikhathini sonke lesi izinqubo zokugula kumele kwenziwe, okuyinto ngcono trophism e ezicutshini. Lena amasu Physiotherapy ezahlukene, sokuvivinya umzimba amaseshini njalo massage zokwelapha. Konke lokhu kusiza ukwehlisa ukuqhubeka kwesifo kanye nokuthuthukiswa contractures ngokuhlanganyela kanye imisipha, okuyinto nomkhawulo kakhulu umsebenzi motor isiguli. Ukuze wehlise ukuqina ukusetshenziswa wamathambo izindlela ezehlukene zokwenza lokhu futhi ezakhiwe. Ezimweni ezimbi kakhulu, lapho uphinyiswa contracture futhi kuvimbele hhayi kuphela ukuhamba, kodwa ngisho ukuhlala manga ukuze ukusebenzisa ukuhlinzwa okuthuthukisa.