Ingabe imisipha yengane yakho ibonakala ibuthakathaka? Ake sixoxe ngalokhu (Becker Muscular Dystrophy)!

Wake waphawula ukuthi ezinye izingane noma intsha zinobunzima obuncane bokuhamba, ukugijima, noma ukukhuphuka izitebhisi kunabanye? Noma wake wazizwa sengathi imisipha yazo iyabuthaka kancane kancane? Mhlawumbe isizathu salokhu yisimo esizokhuluma ngaso namuhla, esibizwa ngokuthi `(Becker Muscular Dystrophy)`. Ungakhathazeki, ake sichaze konke ngamagama alula.

Kuyini `(Becker Muscular Dystrophy)`? Kalula nje...

`(Becker Muscular Dystrophy)`, eyaziwa nangokuthi `(BMD)` ngamafuphi, yisimo esingavamile sofuzo. Okwenzekayo ukuthi imisipha emzimbeni iba buthaka kancane kancane futhi ukusebenza kwayo kwehla. Uma sikhuluma iqiniso, lesi yisimo sofuzo. Lesi simo sithinta kakhulu abafana nabesilisa. Isizathu salokhu `(ifa elixhunywe ku-X)`, okusho ukuthi lizuzwe kumama (uma engumthwali) enganeni yowesilisa.

Lobu buthakathaka bemisipha buvame ukuqala emilenzeni nasezinqeni zakho, futhi ngokuhamba kwesikhathi, bungasakazekela ezingalweni zakho ezingaphezulu, okusho umzimba wakho ongaphezulu.

Ezinhlotsheni ze-muscular dystrophy eziqashelwa njengamanje, i-BMD ingaba uhlobo lwesithathu oluvame kakhulu kubantu abadala, ngemuva kwe-myotonic dystrophy kanye ne-facioscapulohumeral dystrophy.

Uyini umehluko phakathi kwe-`(Becker Muscular Dystrophy)` kanye ne-`(Duchenne Muscular Dystrophy)`?

Kungenzeka ukuthi uke wezwa ngesimo esibizwa ngokuthi `(Duchenne Muscular Dystrophy)` noma `(DMD)`. Zombili `(BMD)` kanye `(DMD)` zibangelwa izinguquko esakhiweni esifanayo, okungukuthi, isakhi sofuzo esibhala iphrotheni ebizwa ngokuthi `(dystrophin).` Le phrotheni ebizwa ngokuthi `(dystrophin)` ibaluleke kakhulu empilweni yemisipha yethu.

Kodwa nansi umehluko:

• Umuntu one-DMD cishe akanayo iphrotheni ye-dystrophin ezicutshini zemisipha yakhe.
• Umuntu one-BMD une-dystrophin ethile emisipheni yakhe, kodwa akwanele.

Ngakho-ke, isimo `(BMD)` asibi kakhulu kune `(DMD)`, futhi izimpawu ziyavela futhi ziqhubeke kancane kakhulu kune `(DMD)`. Kodwa-ke, izimpawu ziyafana kakhulu kuzo zombili.

Ubani othinteka kakhulu yilesi simo (i-Becker Muscular Dystrophy)?

Njengoba sishilo ngaphambili, i-BMD ithinta kakhulu amadoda. Kodwa-ke, abesifazane abathwala i-BMD (okungukuthi, labo abaphethe isakhi sofuzo esibangela lesi sifo kodwa ababonisi izimpawu) ngezinye izikhathi bangaba nezimpawu. Kodwa-ke, ngokuvamile azibi zimbi kangako, futhi zincane kakhulu.

Ngokuvamile, izimpawu ziqala phakathi kweminyaka emi-5 neyi-15. Kodwa-ke, abanye abantu bangase babe nezimpawu kamuva.

Kuvame kangakanani ukuthi i-`(Becker Muscular Dystrophy)`?

I-BMD empeleni iyisimo esingavamile.Lesi simo sithinta izingane ezizalwayo ezisukela ku-3 kuya ku-6 kwezingu-100,000. Futhi njengoba sishilo, sithinta kakhulu abafana.

Ziyini izimpawu ze-`(Becker Muscular Dystrophy)`?

Izimpawu ze-BMD zivame ukuqala phakathi kweminyaka emi-5 neyi-15, kodwa zingase zivele kamuva. Okwenzekayo ukuthi ubuthakathaka bemisipha buyanda kancane kancane ngokuhamba kwesikhathi. Ngakho-ke, izimpawu ezivame kakhulu yilezi:

• Ubunzima bokukhuphuka izitebhisi.
• Ubunzima bokuhamba, kanye nobunzima obandayo ngokuhamba kwesikhathi.
• Ukwehla kwamandla okuzivocavoca (ukuzizwa ukhathele ngisho noma uzikhandla kancane).
• Ubuhlungu bemisipha kanye/noma ukudikiza kwemisipha (njengokuqaqamba kwemisipha).
• Ukuwa njalo.
• Ukuhamba ngezinyawo.
• Ukuzizwa ukhathele ngaso sonke isikhathi (Ukukhathala).

Cabanga nje, uma ingane yakho ingagijimi futhi ingadlali njengoba yayivame ukwenza, bese ithi "Mama, ngikhathele" ngisho nangemva kokuhamba isikhashana, noma uma ikhathala ngokushesha kunezinye izingane lapho idlala esikoleni, kuwumqondo omuhle ukukhathazeka kancane ngakho.

Ngaphezu kwalokhu, i-BMD ingabangela ezinye izimpawu:

• I-Cardiomyopathy : Lokhu kuyinto okufanele uyiqaphele.
• Ubunzima bokuphefumula.
• Umehluko othile ekufundeni (njengokuthatha isikhathi eside ukuqonda ezinye izinto kunezinye).
• Ukulahlekelwa yibhalansi yomzimba kanye nokuxhumana.

Abesifazane abathwala i-BMD bangase babe ne-cardiomyopathy noma ubuthakathaka bemisipha obuncane kakhulu. Kulinganiselwa ukuthi cishe ama-22% abathwala i-BMD azoba nezimpawu, kodwa lokhu kuyahlukahluka kakhulu kumuntu nomuntu.

Yini ebangela `(Becker Muscular Dystrophy)`?

I-BMD yisimo sofuzo esizuzwa njengefa. Sibangelwa ukuguquka kwezakhi zofuzo okwakha iphrotheni ebizwa ngokuthi i-dystrophin. I-Dystrophin ibalulekile ekugcineni amangqamuzana emisipha emizimbeni yethu eqinile futhi ezinzile.

Ngakho-ke, uma kukhona ushintsho kulesi sakhi sofuzo i-`(dystrophin)`, iphrotheni i-`(dystrophin)` ayikhiqizwa, noma inani elikhiqizwayo liyancipha kakhulu. Ngenxa yalokho, ngokuhamba kwesikhathi, imisipha iba buthakathaka futhi iqala ukulimala.

I-Becker Muscular Dystrophy izuzwa kanjani njengefa? Lokhu kuyinto okudingeka uyiqonde kancane!

`(BMD)` izuzwe ngendlela ebizwa ngokuthi `(X-linked recessive inheritance)`. Manje ake sikuqonde lokhu kalula.

• I-X-linked isho ukuthi i-gene ebangela i-BMD itholakala ku-chromosome X. Njengoba wazi, sinama-chromosome amabili ocansi, u-X no-Y.
• Ukubuyela emuva kusho ukuthi ukuze lesi sifo sivele, womabili amakhophi esakhi sofuzo esifanele (sinamakhophi amabili cishe esakhi sofuzo ngasinye) kumele abe nohlobo oluthile lwesifo noma uguquko olubangela lesi sifo.

Kodwa nansi into ebaluleke kakhulu:

• Abesilisa (XY) bane-chromosome eyodwa engu-X. Ngakho-ke, uma kukhona iphutha ku-gene efanele kuleyo chromosome eyodwa engu-X, kwanele ukubangela `(BMD)`.
• Abesifazane banama-chromosome amabili e-X (XX) . Ngakho-ke ukuze kuvele isifo esixhunyaniswe ne-X, ngokuvamile womabili amakhophi esakhi kumele abe namaphutha. Kodwa-ke, abesifazane abanesakhi sofuzo esinamaphutha ku-chromosome eyodwa ye-X babizwa ngokuthi "abathwali." Esikhathini esiningi, laba bathwali ababonisi izimpawu. Kodwa-ke, akuvamile kakhulu, izimpawu ezincane noma eziphakathi zingase zivele.

Manje bheka ukuthi lokhu kwenzeka kanjani ezizukulwaneni ngezizukulwane:

• Kumama othwala lesi sifo (onesakhi sofuzo esingasebenzi kahle ku-chromosome eyodwa ye-X) :
• Uma kuzalwa indodana, kunethuba elingu-50% lokuthi indodana izoba nale nkinga `(BMD)`.
• Uma unendodakazi, kunethuba elingu-50% lokuthi izoba yimthwali.
• Kubaba onesimo (se-BMD) :
• Akakwazi ukudlulisela lesi sifo emadodaneni akhe (ngoba ubaba udlulisela i-chromosome Y endodaneni).
• Kodwa wonke amadodakazi akhe azoba ngabathwali (ngoba ubaba unikeza indodakazi i-chromosome X enesici).

Uyaqonda? Lokhu kungase kubonakale kuyinkimbinkimbi kancane, kodwa kalula nje, umfana cishe uzothola lokhu kunina, uma umama engumthwali.

Itholakala kanjani i-`(Becker Muscular Dystrophy)`?

Uma wena noma ingane yakho nisolwa ukuthi nine-BMD, udokotela wakho cishe uzokwenza ukuhlolwa ngokomzimba, ukuhlolwa kwezinzwa, kanye nokuhlolwa kwemisipha. Bazokubuza nangezimpawu zakho kanye nomlando wakho wezokwelapha, okuhlanganisa nokuthi ngabe kukhona yini emndenini wakho oke waba nezimo ezifanayo.

Phakathi nalezi zivivinyo, udokotela angase abone izinto ezifana nalezi:

• Imisipha emilenzeni nasezinqeni inciphile.
• Nakuba imisipha endaweni yesisu ingase ibonakale inkulu ekuqaleni (lokhu kubizwa ngokuthi "i-pseudohypertrophy" ), empeleni ibuthakathaka. Kunjengokungathi ivele yavuvukala ngaphakathi.
• Ukugoba komgogodla (i-scoliosis) kanye nokukhubazeka okuthile kwesifuba.
• Ukukhubazeka kwemisipha, isibonelo, ukuqina okungapheli kwemisipha, imisipha, kanye nesikhumba ezithendeni nasemilenzeni (ukugoba) .

Yiziphi izivivinyo ezisetshenziswa ukuxilonga `(Becker Muscular Dystrophy)`?

Uma udokotela wakho esola ukuthi wena noma ingane yakho ine-BMD, angase ancome ukuhlolwa okulandelayo:

• Ukuhlolwa kwegazi kwe-Creatine kinase: Uma imisipha yonakele, ikhipha i-enzyme ebizwa ngokuthi i-creatine kinase egazini. Umuntu one-BMD angaba nezinga lale creatine kinase eliphindwe kahlanu noma ngaphezulu kunejwayelekile.
• Ukuhlolwa kwegazi lofuzo: Lokhu kuhlolwa kofuzo, okuhlola ukuguquka kwezakhi zofuzo ze-Dystrophin, kungaxilonga i-BMD ngokuphelele.

Uma wena noma ingane yakho kuqinisekisiwe ukuthi nine-BMD, udokotela wakho angase futhi ancome i- Electrocardiogram (EKG) noma i-Echocardiogram ukuhlola izinkinga zemisipha yenhliziyo ezingase zibangelwe yi-BMD.

Iphathwa kanjani i-Becker Muscular Dystrophy?

Ngeshwa, okwamanje alikho ikhambi le-BMD. Ngakho-ke, umgomo oyinhloko wokwelashwa ukulawula izimpawu nokugcina ikhwalithi yokuphila engcono kakhulu.

Kunezindlela ezimbili eziyinhloko zokwelapha i-BMD:

1. Ama-Corticosteroids: Isibonelo, imithi efana ne-prednisolone. Lokhu kusiza ukuthuthukisa ukusebenza kwamaphaphu, kunciphise ijubane lokukhula kwe-scoliosis, kunciphise ijubane lokukhula kwe-cardiomyopathy, futhi kwandise isikhathi sokuphila.

2. Ukuvuselelwa: Lokhu kusiza isiguli ukuthi silondoloze ikhono laso lokusebenza isikhathi eside futhi sithuthukise ikhwalithi yempilo yaso.

• Ukwelashwa ngokomzimba kusiza ukuqinisa imisipha.
• Ukwelashwa ngenkulumo, ukwelashwa ngomsebenzi, kanye nokwelashwa kokuzijabulisa kungasiza ngemisebenzi yansuku zonke.

Ngaphezu kwalokhu, kunezinye izindlela zokwelapha ezingasiza nge-BMD:

• Izinsiza zokuhamba ngezinyawo zezinto ezifana nokuhamba - isib. izinduku, izihlalo zabakhubazekile, ama-braces.
• Imithi ye-`(Cardiomyopathy)` - isib. `(ACE inhibitors)` kanye `(beta-blockers)` .
• Ukuhlinzwa ukusiza nge-scoliosis kanye nokuqunjelwa.
• Uma ubunzima bokuphefumula buba bukhulu (ukwehluleka kokuphefumula) , i-tracheostomy (inqubo yokuhlinzwa yokuvula i-trachea) kanye nokuphefumula okwenziwe kungadingeka.

Izindaba ezinhle ukuthi imithi emisha eminingana yokwelapha i-`(BMD)` okwamanje iyahlolwa ngokwezokwelapha futhi ingase ithembise esikhathini esizayo. (Iphutha lokuhumusha emthonjeni, kufanele libe yiSinhala: Izindaba ezinhle ukuthi imithi emisha eminingana yokwelapha i-`(BMD)` okwamanje iyahlolwa ngokwezokwelapha. Ingase ithembise esikhathini esizayo.)

Ngenhlanhla, imithi emisha eminingana engelapha i-BMD okwamanje isezivivinyweni zemitholampilo, futhi singalindela imiphumela emihle kuyo esikhathini esizayo.

Ingabe i-Becker Muscular Dystrophy ingavinjelwa?

Njengoba i-BMD iyisifo esidluliselwa ngofuzo, akukho esingakwenza ukuyivimbela.

Kodwa-ke, uma une-BMD, noma uma ukhathazekile ngokuthi ungase ube ne-BMD noma esinye isifo sofuzo, khuluma nodokotela wakho ngakho ngaphambi kokuba ube nezingane.Kuhle kakhulu ukuthola iseluleko ngofuzo.

Iyini i-prognosis ye-Becker Muscular Dystrophy?

Umbono womuntu one-BMD ungahluka kuye ngomuntu. Lokhu kuwukuqhubeka kancane kancane kokukhubazeka. Kodwa-ke, ubukhulu bokukhubazeka buyahlukahluka. Abanye abantu bangadinga isihlalo sabakhubazekile, kanti abanye bangadinga kuphela ukusebenzisa izinsiza zokuhamba (izinduku, izinduku zokusibekela).

Kodwa-ke, uma umuntu one-`(BMD)` enesifo senhliziyo noma enenkinga yokuphefumula, isikhathi sakhe sokuphila singancishiswa.

Izinkinga ezingase zivele ngenxa ye-BMD yilezi:

• Izinkinga zenhliziyo, ikakhulukazi `(Cardiomyopathy)`.
• Ubunzima bokuphefumula obubangelwa ubuthakathaka bemisipha yokuphefumula.
• I-pneumonia noma ezinye izifo zokuphefumula.
• Ngokuhamba kwesikhathi, ukukhubazeka kuyanda futhi umuntu akakwazi ukwenza umsebenzi wakhe ngokuzimela.
• Ukuphuka kwamathambo.

Ingakanani iminyaka yokuphila yomuntu one-`(Becker Muscular Dystrophy)`?

Isikhathi sokuphila somuntu ono-"BMD" sivame ukufinyezwa kancane. Okusho ukuthi, phakathi kweminyaka engama-40 nengama-50. "I-dilated cardiomyopathy" (isimo lapho imisipha yenhliziyo iba buthakathaka futhi ikhule) iyimbangela ehamba phambili yokufa.

Ngingamnakekela kanjani umuntu one-`(BMD)`? Noma ngizinakekela kanjani mina?

Uma une-BMD, kubalulekile ukuthola ukunakekelwa okuhle kwezokwelapha ukuze uvimbele noma welaphe izinkinga ze-BMD, njengesifo senhliziyo nezinkinga zokuphefumula. Kungasiza futhi ukujoyina iqembu lokusekela lapho ungabelana khona ngolwazi lwakho futhi uhlangane nabanye abakuqondayo.

Uma unakekela umuntu one-BMD, kubalulekile ukuqinisekisa ukuthi uthola ukunakekelwa kwezokwelapha okungcono kakhulu, izinsiza zokuhamba azidingayo, kanye nokwelashwa okumsiza ukuthi asebenze ngokuzimela. Nguwe okufanele ube ngummeleli wakhe.

Kufanele ngimbone nini udokotela mayelana ne-`(Becker Muscular Dystrophy)`?

Uma wena (noma ingane yakho) nitholakale nine-Becker Muscular Dystrophy, kubaluleke kakhulu ukubona ithimba lakho lezokwelapha njalo ukuze uthole ukwelashwa nokuqapha izimpawu zakho.

Siyazi ukuthi ukuxilongwa okufana ne-Becker Muscular Dystrophy akulula ukukuqonda nokubhekana nakho. Kungaba nzima kakhulu. Ithimba lakho lezokwelapha lizokunikeza uhlelo lokuphatha oluqinile oluhambisana nezimpawu zakho. Kubalulekile ukuqinisekisa ukuthi uthola ukwesekwa okudingayo futhi unakekela impilo yakho.

Ngamafuphi, izinto okudingeka sizikhumbule (Umyalezo Wokuya Ekhaya)

Kulungile, nansi izinto ezilula okufanele uzikhumbule mayelana ne-`(Becker Muscular Dystrophy)` noma `(BMD)` esikhulume ngazo:

• "(BMD)" yisifo sofuzo esidluliselwa ezizukulwaneni ngezizukulwane. Kulokhu, imisipha iba buthaka kancane kancane.
• LokhuKuthinta kakhulu amadoda.
• Imbangela yiphutha esakhiweni sofuzo esenza iphrotheni ethi "dystrophin".
• Izimpawu zivame ukuqala ebuntwaneni (phakathi kweminyaka emi-5 neyi-15). Izimpawu zifaka phakathi ubunzima bokuhamba, ukukhathala, kanye nokuwa njalo.
• I-cardiomyopathy (isifo semisipha yenhliziyo) kanye nokucindezeleka kokuphefumula kungaba yizinkinga ezinkulu zalesi simo.
• Okwamanje akukho ukwelashwa kwalesi simo. Kodwa-ke, kunezindlela zokwelapha ezahlukahlukene ezitholakalayo zokulawula izimpawu nokuthuthukisa ikhwalithi yokuphila (isib., ama-corticosteroids, ukwelashwa ngokomzimba).
• Uma othile emndenini enalesi simo, kuwukuhlakanipha ukufuna ukwelulekwa ngofuzo ngaphambi kokuba nomntwana.
• Kubaluleke kakhulu futhi ukufuna iseluleko sezokwelapha kanye nokwelashwa njalo, kanye nokuhlala uqinile engqondweni.

Ungakhohlwa, awuwedwa. Uma ubhekene nalokhu, funa usizo kodokotela, emndenini, kubangani, kanye namaqembu okusekelana. Kuzoba umthombo omkhulu wamandla kuwe!

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` I-Becker muscular dystrophy, i-BMD, ubuthakathaka bemisipha, izifo zofuzo, i-dystrophin, i-X-linked, ukuguqulwa kwezakhi zofuzo, impilo yengane, isifo senhliziyo, ukwelashwa ngokomzimba