Ingabe imisipha yengane yakho ibonakala ibuthakathaka? Funda nge-Duchenne Muscular Dystrophy (DMD)

Kungenzeka ukuthi uqaphele ukuthi ingane yakho encane iqala ukuba nobunzima bokuhamba nokukhuphuka izitebhisi selokhu yagijima futhi idlala. Noma uzizwa sengathi ihlala iwela futhi izizwa ikhathele kakhulu? Lezi zingabonakala njengezinto ezincane esingazinaki kakhulu, kodwa zingaba izimpawu zokuqala zezimo ezibucayi. Yilokho kanye esizokhuluma ngakho namuhla, isifo esenza imisipha ibe buthaka kancane kancane, ikakhulukazi kubafana.

Kuyini i-Duchenne Muscular Dystrophy (DMD)?

Kalula nje, i-Duchenne muscular dystrophy, noma i-DMD ngamafuphi, yisifo lapho imisipha yamathambo emzimbeni wethu, imisipha esiza ekushukumiseni izitho zethu, kanye nemisipha yenhliziyo, iba buthaka kancane kancane futhi ingasebenzi ngokuhamba kwesikhathi. Lolu uhlobo oluvame kakhulu nolunzima lwe-muscular dystrophy .

Cabanga ngalokhu: imisipha yethu ifana namabhande enjoloba anwebekayo. Kulesi sifo, amandla aleyo misipha enwebekayo ayancipha futhi ayisasebenzi kahle. Ngokuhamba kwesikhathi, lesi simo siba sibi kakhulu, asibi ngcono.

I-DMD ivame ukuba yi-genetic, okusho ukuthi idluliselwa kusuka esizukulwaneni kuya kwesinye . Ngokukhethekile, idluliselwa njenge- X-linked recessive characteristic . Lokhu kusho ukuthi uma umama engumthwali walesi sifo, ingane yakhe ingasithola kuye. Kodwa-ke, kwezinye izimo, cishe ama-30% wamacala, lesi simo singavela ngenxa yokuguquka okusha kwezakhi zofuzo , noma ngabe akekho emndenini oke waba nalesi sifo ngaphambili. Lokhu kusho ukuthi ngezinye izikhathi singenzeka ngokungahleliwe.

Ubani othinteka kakhulu yilesi simo se-DMD?

I-Duchenne muscular dystrophy ithinta kakhulu abafana . Kodwa-ke, amantombazane athwala i-gene ebangela lesi sifo angabonisa izimpawu ezincane ngezinye izikhathi. Kodwa-ke, lokhu akuvamile kakhulu.

Izimpawu zobuthakathaka bemisipha zivame ukuqala phakathi kweminyaka emi-2 nengu-4. Kodwa-ke, ezinye izingane zingase zingaqali ukubonisa lezi zimpawu kuze kube yilapho sezineminyaka engaba ngu-6 ubudala. Ngakho-ke, uma unokungabaza, kungcono ukufuna iseluleko sezokwelapha.

Ivame kangakanani i-DMD?

Nakuba lesi kuyisimo esibucayi, asivamile njengoba umuntu engacabanga. Izibalo zibonisa ukuthi cishe oyedwa kwabangu-3,600 abazalwa bephila bezingane zesilisa emhlabeni wonke unesifo se-DMD. I-DMD ingenye yezifo ezivame kakhulu ze -myopathies ezinzima, ezizuzwe njengefa, noma izifo zemisipha yamathambo.

Ingabe i-DMD iyisifo esibulalayo?

Yebo, ngokudabukisayo, i-DMD ekugcineni iyabulala.Esinye isifo. Abantu abaningi abanalesi simo bafa ngenxa yezinkinga emaphashini nasenhliziyweni. Kodwa ungakhathazeki, ngemithi yokwelapha yamanje, kunezindlela zokwandisa impilo yakho nokugcina impilo yakho isezingeni elihle.

Ziyini izimpawu ze-DMD?

Njengoba sishilo ngaphambili, izimpawu ze-DMD zivame ukuqala phakathi kweminyaka engu-2 no-4. Kodwa-ke, ngezinye izikhathi zingaqala zisencane, noma zivele kamuva ebuntwaneni.

Njengoba i-DMD ibangela ubuthakathaka bemisipha ngokuhamba kwesikhathi, izimpawu ezivame kakhulu yilezi:

• Ubuthakathaka bemisipha kanye nokuphelelwa amandla (ukuwohloka kwemisipha) okukhula kancane kancane, kusukela emilenzeni nasemaqakaleni. Lesi simo sithinta izingalo, intamo, nezinye izingxenye zomzimba ngezinga elincane.
• Ukuqina kwemisipha yethole (okusho ukuthi imisipha yethole iba nkulu). Lokhu kwenzeka lapho imicu yemisipha ithathelwa indawo yizicubu ezinamafutha kanye nezicubu ezixhumeneyo.
• Ubunzima bokukhuphuka izitebhisi.
• Ubunzima bokuhamba ngokuhamba kwesikhathi.
• Ukuwa njalo.
• Ukuhamba ngezinyawo.
• Ukuhamba ngezinyawo.
• Ukuzizwa ukhathele ngokushesha (ukukhathala).

Cabanga nje, uma indodana yakho ivuka ekudlaleni phansi, icindezela izandla zayo phansi, bese ibeka izandla zayo emadolweni ayo, bese iphakamisa umzimba wayo kancane kancane ngobunzima obukhulu, lokho kungaba uphawu lwalesi sifo (lokhu kubizwa nangokuthi uphawu lukaGowers).

Ngaphezu kwalokhu, i-DMD ingabangela ezinye izimpawu:

• Isifo semisipha yenhliziyo (i-Cardiomyopathy).
• Ubunzima bokuphefumula kanye nokuphelelwa umoya.
• Ukukhubazeka kwengqondo kanye nokwehluka kokufunda.
• Ukwephuza ukuthuthukiswa kwenkulumo nolimi.
• Ukulibaziseka kokukhula.
• I-Scoliosis.
• Ubude obufushane.

Phakathi kuka-2.5% no-20% wamantombazane aphethe isakhi sofuzo esibangela i-DMD (abathwali) bangase babe nezimpawu ezincane, kodwa ngokuvamile azibi zimbi kakhulu.

Kungani kwenzeka into efana nale DMD?

Imbangela eyinhloko ye-DMD ukuguquka kwezakhi zofuzo okudala ukukhiqizwa kwe-dystrophin, iphrotheni ebalulekile ekugcineni imisipha yethu iphilile. Le phrotheni, i-dystrophin, ibalulekile kwi -dystrophin-glycoprotein complex (DGC), esebenza njengeyunithi yesakhiwo semisipha.

Ku-DMD, amaprotheni e-dystrophin kanye ne-DGC ayalahleka, okuholela ekufeni kwamaseli emisipha (i-necrosis).Umuntu one-DMD une-dystrophin engaphansi kuka-5% yenani elidingekayo lemisipha enempilo.

Njengoba abantu abane-DMD bekhula, imisipha yabo ayikwazi ukufaka esikhundleni sala maseli afile ngamasha. Esikhundleni salokho , izicubu ezixhumeneyo kanye nezicubu zamafutha zithatha indawo yemicu yemisipha.

Njengoba sishilo ngaphambili, i-DMD iyisimo esixhunyaniswe no-X . Kodwa-ke, cishe ezimweni ezingama-30%, ingavela ngokungahleliwe, ngaphandle komlando womndeni.

"I-X-linked" isho ukuthi i-gene ebangela i-DMD itholakala ku-chromosome X. Njengoba wazi, abesilisa bane-chromosome X eyodwa kanye ne-chromosome Y eyodwa, kanti abesifazane bane-chromosome X ezimbili.

"Ukubuyela emuva" kusho ukuthi umuntu uzothola lesi sifo kuphela uma enamakhophi amabili esakhi sofuzo esibangela lesi sifo. Kodwa abesilisa bane-chromosome eyodwa engu-X. Ngakho-ke uma ukuguquka kwesakhi sofuzo okubangela i-DMD kukuleyo chromosome engu-X, bazothola i-DMD. Ukuze intombazane ithole i-DMD, kumele ibe nalokhu kuguquka kwesakhi sofuzo kuzo zombili ama-chromosome ayo angu-X. Lokho akuvamile kakhulu. Kodwa uma enalokhu kuguquka kwesakhi sofuzo ku-chromosome eyodwa engu-X kuphela, uzoba ngumthwali walesi sifo.

I-DMD itholakala kanjani?

Uma ingane yakho ibonisa izimpawu ze-DMD, udokotela uzoqala enze ukuhlolwa ngokomzimba , ukuhlolwa kwezinzwa, kanye nokuhlolwa kwemisipha . Bazobuza nangezimpawu zengane yakho kanye nomlando wezokwelapha.

Uma udokotela esola ukuthi ingane ine-DMD, kungenziwa izivivinyo ezilandelayo:

• Ukuhlolwa kwegazi kwe-Creatine Kinase (CK): Uma imisipha yonakele, i-enzyme ebizwa ngokuthi i-creatine kinase iyanqwabelana egazini. Ngakho-ke, uma izinga le-CK liphakeme, kungaba uphawu lwe-DMD. Leli zinga livame ukuphakama cishe eminyakeni emi-2, futhi lingaba phezulu ngokuphindwe kayi-10-20 kunokujwayelekile.
• Ukuhlolwa kwegazi ngofuzo: I-DMD ingaqinisekiswa ngokuhlolwa kofuzo okubonisa ukulahleka okuphelele noma okuyingxenye kwe-dystrophin gene.
• Ukuhlolwa kwemisipha: Udokotela angase athathe isampula encane yemisipha ethangeni noma etholeni lengane yakho. Uchwepheshe uzobheka isampula ngaphansi kwe-microscope ukuze abone ukuthi zikhona yini izimpawu ze-DMD.
• I-Electrocardiogram (EKG): Ngenxa yokuthi i-DMD ivame ukuthinta inhliziyo, udokotela uzokwenza i-EKG ukuhlola noma yiziphi izimpawu ezithile ze-DMD nokuhlola impilo yenhliziyo.

Yiziphi izindlela zokwelapha lokhu?

Ngeshwa, okwamanje akukho ukwelashwa kwe-DMD. Ngakho-ke, umgomo oyinhloko wokwelashwa ukulawula izimpawu nokugcina ikhwalithi yempilo yengane ingcono kakhulu ngangokunokwenzeka.

Okulandelayo izindlela zokwelapha ezisekelayo ze-DMD:

• Ama-Corticosteroids: Imithi ye-steroid, njenge -prednisolone kanye ne-deflazacort , isiza ekunciphiseni ukulahleka kwemisipha, ukuthuthukisa ukusebenza kwamaphaphu, ukunciphisa i-scoliosis, ukunciphisa izinga lobuthakathaka bemisipha yenhliziyo (cardiomyopathy), kanye nokwandisa impilo.
• Imithi ye-cardiomyopathy: Ukuqala kusenesikhathi kwemithi efana ne -ACE inhibitors kanye/noma i-beta-blockers kungalawula ubuthakathaka bemisipha yenhliziyo futhi kuvimbele ukuhlaselwa yinhliziyo.
• Ukwelashwa ngokomzimba: Umgomo oyinhloko wokwelashwa ngokomzimba ukuvimbela ukugoba , okuwukuqina okungapheli kwemisipha, imisipha, kanye nesikhumba. Lokhu kuvame ukuhilela ukuvivinya umzimba okuthile.
• Ukuhlinzwa kokuqina komgogodla kanye nokuqina kwemisipha: Ezimweni ezimbi kakhulu, ukuhlinzwa kungadingeka ukuze kuncishiswe ukuqina kwemisipha. Ukuhlinzwa ukuze kulungiswe i-spinal stenosis kungathuthukisa ukusebenza kwamaphaphu kanye nokuphefumula.
• Ukuzivocavoca: Udokotela wengane yakho uvame ukuncoma ukuzivocavoca okuthambile ukuze kuvinjelwe ukuwohloka kwemisipha okuqhubekayo. Lokhu kuvame ukwenziwa kanye nokuzivocavoca echibini kanye nemisebenzi yokuzijabulisa.

Ezinye izindlela zokwelapha ezisekelayo zifaka:

• Izinsiza zokuhamba: ama-braces, izinduku, kanye nezihlalo zabakhubazekile.
• I-Tracheostomy kanye nokusiza ngokuphefumula kwezinkinga zokuphefumula.

Emashumini ambalwa eminyaka edlule, isikhathi sokuphila kwabantu abane-DMD sikhuphuke kakhulu ngentuthuko yezinsizakalo zokunakekelwa ezisekelayo.

Imithi emisha eminingana okwamanje isesivivinyweni somtholampilo esingase sinikeze ithemba lokwelapha i-DMD. Izindlela zokwelapha eziningana ezintsha, njenge-"exon skipping" (indlela "ehlanganisa" ingxenye engekho noma eguqukile ye-dystrophin gene), isanda kuvunywa yi-FDA (Food and Drug Administration) . Kodwa-ke, lezi zindlela zokwelapha zingasetshenziswa kuphela kubantu abambalwa abanezinguquko ezithile zezakhi zofuzo. Nakuba lezi zindlela zokwelapha zandisa inani leprotheyini ye-dystrophin emisipheni, azikabonisi ukuthuthuka okuphawulekayo emandleni nasemsebenzini womzimba.

Ingabe lesi simo se-DMD singavinjelwa?

Ngenxa yokuthi i-DMD iyisimo esizuzwa njengefa, akukho ongakwenza ukuyivimbela . Cishe ingxenye yesithathu yamacala yenzeka ngokungahleliwe, ngaphandle komlando womndeni.

Uma ukhathazekile ngengozi yokudlulisela i-DMD noma ezinye izimo zofuzo ezinganeni zakho ngaphambi kokuba uzame ukuba nomntwana, cabanga ngokwelulekwa ngofuzo.Khuluma nodokotela wakho ngalokhu. Kwezinye izimo, ukuhlolwa kokukhulelwa kusenesikhathi kungase kukwazi ukubona i-DMD.

Uhlobo luni lwesimo olungalindelwa esikhathini esizayo (Isibikezelo)?

Abantu abane-DMD bavame ukuba nombono ongemuhle . Lokhu kubangela ukukhubazeka okuqhubekayo, futhi izingane eziningi ezine-DMD zisuke zisesihlalweni sabakhubazekile lapho sezineminyaka engu-12. I-DMD ingaholela nasekufeni kusenesikhathi.

Ingakanani iminyaka yokuphila komuntu one-DMD?

Abantu abane-DMD bavame ukufa ngenxa yalesi simo lapho beneminyaka engu-25. Kodwa-ke, ngentuthuko ekunakekelweni okusekelayo, abantu abaningi manje sebephila isikhathi eside.

Ukufa kuvame ukubangelwa izinkinga zokuphefumula (ukuphefumula) noma zenhliziyo. I-pneumonia, ukufutha kwento yangaphandle njengokudla, noma ukuvaleka komoya nakho kungabangela ukufa.

Umnakekela kanjani umuntu one-DMD?

Uma unakekela umuntu one-DMD, kubalulekile ukummela, umsize athole ukunakekelwa kwezokwelapha okungcono kakhulu kanye nokwelashwa , ukuze abe nempilo engcono kakhulu.

Kungaba ngumqondo omuhle futhi ngawe nomndeni wakho ukujoyina iqembu lokusekelana ukuze nihlangane nabanye abantu abaye baba nokuhlangenwe nakho okufanayo. Kungaba yisikhuthazo esikhulu futhi ukwazi ukuthi awuwedwa.

Ingane yami kufanele ibone nini udokotela mayelana ne-DMD?

Uma ingane yakho itholakale ine-DMD, kuzodingeka ibone ithimba layo lezokwelapha njalo ukuze ithole ukwelashwa futhi iqaphe izimpawu.

Ukuqonda isimo se-DMD sengane yakho kungaba nzima kuwe. Kodwa ithimba lakho lezokwelapha lizokunikeza uhlelo lokuphatha oluhlelekile oluhambisana nezimpawu zengane yakho. Kubalulekile ukubheka impilo yengane yakho futhi uqinisekise ukuthi ithola ukwesekwa ekudingayo. Khumbula, ithimba lakho lezokwelapha lihlala likhona ukukusiza, umndeni wakho, kanye nengane yakho.

Okokugcina, khumbula lokhu (Umyalezo Wokuya Ekhaya)

I-Duchenne muscular dystrophy (DMD) iyisimo esibucayi, esihlala isikhathi eside. Kodwa-ke, ukuqwashisa, ukutholakala kusenesikhathi, kanye neseluleko esifanele sezokwelapha kanye nokunakekelwa okusekelayo kungasiza ekugcineni izinga lempilo yengane liphezulu ngangokunokwenzeka.

Khumbula: Awuwedwa. Odokotela, abelaphi bomzimba, abeluleki, kanye namanye amaqembu okusekela bakhona ukukusiza wena nengane yakho. Ucwaningo ngemithi emisha luhlala lukhona. Ngakho ungalilahli ithemba. Into ebaluleke kakhulu ukunikeza ingane yakho uthando, ukunakekelwa, kanye nesikhuthazo.

Uma unenkinga ngemisipha yengane yakho noma ubunzima bokuhamba, ungakuthathi njengento encane.Bona udokotela oqeqeshiwe ngokushesha ukuze uthole iseluleko. Uma lesi sifo sitholakala ngokushesha, kuzoba lula ukusiphatha.

I- Duchenne muscular dystrophy, i-DMD, ubuthakathaka bemisipha, izifo zofuzo, izifo zabafana, i-dystrophin, impilo yabantwana