Uma une-dystrophy ye-muscular noma umsolwa onayo, udinga ukuhlola nodokotela wakho. Ukwelapha ngokufanele futhi ukuqonda isimo sakho kubaluleke kakhulu ekuphathweni okuphumelelayo kwalesi simo. Futhi isici esisodwa esibalulekile sokuqonda lesi sifo ukwazi ukuthi kubangelwa ukushaywa yisisu somzimba.
Ukwazi lolu lwazi kungasiza ukukhomba noma yini engenziwa ukuze unciphise ingozi yokuyithola.
Izinhlobo namaGenetics
Kunezinhlobo eziyisishiyagalolunye ezihlukene nokubonakaliswa kwe-muscular dystrophy. Njengoba isifo sofuzo, uhlobo olunalo luxhomeke ekuguqulweni okuye kwenzeka kuleso geni. Ezinye izici zingase zidlale indima, futhi uhlobo ngalunye lungase luhambisane nesimo esilandelayo nesifundo sokwelapha.
Izinhlobo ze-dystrophy ye-muscular zihlanganisa:
- I-Myotonic (eyaziwa nangokuthi isifo sikaSteinert)
- I-duchenne i-dystrophy yemisipha
- Becker
- I-bimb-girdle
- Congenital
- Oculopharyngeal
- I-Facioscapulohumeral
- Ukuhlukanisa
- Emery-Dreifuss
Izimbangela ezivamile
Ukuqonda imbangela ye-dystrophy ye-muscular, kudingeka uqonde ukuthi lesi sifo sithinta kanjani imisipha yakho. Njengoba kubonisiwe, isimo sibonakaliswa ubuthakathaka obuqhubekayo nokubhujiswa kwamangqamuzana omzimba. Kodwa yini ebangela ukuthi le misipha ichithe?
Iyini i-Dystrophin?
Imisipha yakho yenziwe ngezibopho zemisipha. Lezi zindwangu zimbozwe emgodleni, futhi ezungeze umgogodla kukhona izakhiwo ezihlukahlukene njengezinzwa namaphrotheni.
Lokhu kusiza i-fiber muscle-nemisipha yakho-isivumelwano ngokufanele.
I-Dystrophin ingenye yamaprotheni anezungeze imisipha yakho. Okokuqala kubonakala ngo-1986, kwaziwa ukunikeza isixhumanisi phakathi kwengxenye yangaphandle ye-muscle kanye ne-extracellular matrix lapho i-fiber muscle ihlala khona. Indima yeprotheni ukuhlinzeka ngohlaka lwe-scaffold kanye nesakhiwo ukuze imisipha yakho isebenze kahle.
I-Dystrophin idlulisela amandla okuchotshozwa kwemisipha ngaphakathi ngaphakathi kwe-muscle fiber yakho ngaphandle, okuholela ekunqandeni kwemisipha ye-forcible. Ukungabi khona kwe-dystrophin kuholela ku-Duchenne muscular dystrophy kuyilapho ukukhiqizwa kwe-dystrophin eyiphutha kuholela ku-Becker's muscular dystrophy.
Ezinye izinto ezingavamile zezakhi zofuzo namaprotheni kucatshangwa ukuthi zenze ezinye izinhlobo ze-muscular dystrophy.
I-Genetics
Ngakho izakhi zofuzo zithinta kanjani amathuba akho kanye nezimbangela zokuthola i-dystrophy ye-muscular? Okokuqala, i-genetic anomaly ebangela ukuba i-dystrophy ye-muscular ixhomeke kwi-X chromosome . (Khumbula, uthola i-chromosome eyodwa kusuka kumzali ngamunye; i-X chromosome ivela kumama wakho. Uma i-X chromosome iphuma kuyihlo, uzobe wesifazane; i-chromosome Y evela kubaba yakho yenza ube yindoda.)
Amadoda anesisindo somzimba we-muscular dystrophy kwi-X yabo ye-chromosome bazoba nesifo. Bese-ke bayodlulisa lelo gciwane kuzo zonke izinzalokazi. Awukwazi ukudlulisela igesi kumntwana wesilisa, njengoba obaba banikela izingane zabo zesilisa i-chromosome Y. Abesifazane bangaba nesigcawu ku-X eyodwa ye-chromosome futhi baphathe isifo ngaphandle kokuletha nayo. Uma kokubili i-chromosomes ye-X engowesifazane isithwesa isisindo esingenasici, inethuba lokubonisa izimpawu ze-muscular dystrophy.
Ngalesi sici, owesifazane unezithuba zamaphesenti angu-50 zokudlulisa i-X yabo ye-chromosome kumntwana wesilisa noma wesifazane.
I-dystrophy yama-musculaza yenziwa ngezikhathi ezithile ngisho nalapho kungekho mlando womndeni wesifo. Lokhu kungase kwenzeke ngenxa yezizathu ezimbili, kufaka phakathi:
- Ukuguqulwa kwezinto kuye kwabe sekuyisizukulwane esizukulwaneni se-X chromosome yomama.
- Ukuguqulwa kwenzeka njengenkinga entsha emaqanda amaqanda omama.
Khumbula ukuthi kuncane ongakwenza ukuze uqobo lwakho luthinte noma yikuphi ukushintshashintsha kwezakhi zofuzo kuma-chromosomes akho. Uma kwenzeka ushintsho, kunethuba lokuthi uzobonisa ezinye izici zesifo.
Izindlela Zengozi Yokuphila
Njengoba kunesici sezakhi zofuzo zokuthola i-dystrophy yama-muscular, akukho ukushintsha kwendlela yokuphila ongayenza ukuze unciphise amathuba okuwuthola. Uma i-genetic makeup ikhona futhi isebenza ngama-chromosomes athile emzimbeni wakho, ungathola i-dystrophy ye-muscular.
Kodwa-ke, abacwaningi baye babona izinto eziyingozi zokubhekana nezinkinga nokufa ngokushesha uma usuvele une-dystrophy ye-muscular. Esifundweni sika-2017 esashicilelwe ku- J yethu yenhlangano yase-American Heart Association , abacwaningi baveza izinto ezintathu ezivame ukubhekana nobungozi ezazikhona kubantu abane-Duchenne muscular dystrophy ababhekana nemiphumela embi kuhlanganise nokufa kusenesikhathi. Lezi zihlanganisa:
- Ukuba nesisindo somzimba njengoba kulinganiswa nenani lomzimba womzimba
- Ukuba nomsebenzi wamaphaphu ompofu
- Ukuba nokuhlushwa kwegazi okuphezulu kweprotheyini ehlobene nokulimala komzimba
Abantu abane-Duchenne muscular dystrophy bangase babe nomphumela omuhle futhi baphile isikhathi eside uma umsebenzi wabo wenhliziyo, umsebenzi wamaphaphu nesisindo kahle. Lokhu kungenziwa ngosizo lodokotela kanye neqembu lezokwelapha.
Ukuqonda imbangela ye-muscular dystrophy kungasiza ukubeka ingqondo yakho kalula. Kuyinto isifo esiyingqayizivele esinqunywe izakhi zofuzo. Lokhu kushiya okuncane ongakwenza ukuvimbela ukuthi kungenzeki, kodwa uma une-dystrophy ye-muscular, kufanele usebenze eduze nodokotela wakho kanye nethimba lezokwelapha ukuze ukwandise umsebenzi wakho jikelele nomphumela.
> Umthombo:
> Cheeran, D., et al. Izibikezelo Zokufa Kwabantu Abadala Nge-Duchenne I-Muscular Dystrophy-Ehlanganisiwe Ne-Cardiomyopathy. I-Journal of the American Heart Association , 2017; 6 (10): e006340 DOI: 10.1161 / JAHA.117.006340