Ngaba izihlunu zomntwana wakho zibonakala zisiba buthathaka? Makhe sithethe ngale (Becker Muscular Dystrophy)!

Ngaba wakha waphawula ukuba abanye abantwana okanye abantu abaselula banobunzima obungaphezulu kokuhamba, ukubaleka, okanye ukunyuka izinyuko kunabanye? Okanye wakha waziva ngathi izihlunu zabo ziya zisiba buthathaka kancinci? Mhlawumbi isizathu soku yimeko esiza kuthetha ngayo namhlanje, ebizwa ngokuba yi-`(Becker Muscular Dystrophy)`. Ungakhathazeki, masichaze yonke into ngokulula.

Yintoni i-`(Becker Muscular Dystrophy)`? Ngamafutshane nje...

`(Becker Muscular Dystrophy)`, ekwaziwa ngokuba yi`(BMD)` ngamafutshane, yimeko engaqhelekanga yemfuza. Okwenzekayo kukuba izihlunu emzimbeni ziyathamba kancinci kancinci kwaye ukusebenza kwazo kuyehla. Ukuchaneka, le yimeko yemfuza. Le meko ichaphazela kakhulu abafana namadoda. Isizathu soku yi`(X-linked inheritance)`, oko kuthetha ukuba ifunyanwa kumama (ukuba ungumthwali) kumntwana oyinkwenkwe.

Olu buthathaka bemisipha ludla ngokuqala emilenzeni nasemaqakaleni, kwaye ekuhambeni kwexesha, lunokusasazeka kwiingalo zakho ezingaphezulu, oko kuthetha umzimba wakho ongaphezulu.

Kwiintlobo ze-muscular dystrophy ezivunyiweyo ngoku, i-BMD isenokuba lolona hlobo lwesithathu oluxhaphakileyo phakathi kwabantu abadala, emva kwe-myotonic dystrophy kunye ne-facioscapulohumeral dystrophy.

Yintoni umahluko phakathi kwe-`(Becker Muscular Dystrophy)` kunye ne-`(Duchenne Muscular Dystrophy)`?

Usenokuba ukhe weva ngemeko ebizwa ngokuba yi-`(Duchenne Muscular Dystrophy)` okanye `(DMD)`. Zombini `(BMD)` kunye ne-`(DMD)` zibangelwa kukuguquka kwezakhi zofuzo kwi-gene efanayo, oko kukuthi, i-gene ebhala iproteni ebizwa ngokuba yi-`(dystrophin).` Le proteni ebizwa ngokuba yi-`(dystrophin)` ibaluleke kakhulu kwimpilo yemisipha yethu.

Kodwa nantsi umahluko:

• Umntu one-DMD phantse akanayo iproteni ye-dystrophin kwizihlunu zakhe.
• Umntu one-BMD une-dystrophin ethile kwimisipha yakhe, kodwa akwanelanga.

Ngoko ke, imeko ethi `(BMD)` ayinzima kangako kune `(DMD)`, kwaye iimpawu ziyavela kwaye ziqhubekeka kancinci kune `(DMD)`. Nangona kunjalo, iimpawu ziyafana kakhulu kuzo zombini.

Ngubani ochaphazeleka kakhulu yile meko (iBecker Muscular Dystrophy)?

Njengoko besitshilo ngaphambili, i-BMD ichaphazela kakhulu amadoda. Nangona kunjalo, abafazi abathwala i-BMD (oko kukuthi, abo baphethe i-gene ebangela esi sifo kodwa bengabonakalisi zimpawu) ngamanye amaxesha banokuba neempawu. Nangona kunjalo, zihlala zingekho nzima kangako, kwaye zincinci kakhulu.

Amaxesha amaninzi, iimpawu ziqala phakathi kweminyaka emi-5 neli-15 ubudala. Nangona kunjalo, abanye abantu banokuzibona iimpawu kamva.

Ixhaphake kangakanani i-`(Becker Muscular Dystrophy)`?

I-BMD yimeko engaqhelekanga ngokwenene.Le meko ichaphazela phakathi kweentsana ezi-3 nezi-6 kwi-100,000 ezizalwayo. Kwaye njengoko besitshilo, ichaphazela kakhulu abafana.

Zithini iimpawu ze-`(Becker Muscular Dystrophy)`?

Iimpawu ze-BMD zihlala ziqala phakathi kweminyaka emi-5 neli-15 ubudala, kodwa zinokuvela kamva. Okwenzekayo kukuba ubuthathaka bemisipha buyanda kancinci kancinci ngokuhamba kwexesha. Ngoko ke, ezona mpawu zixhaphakileyo zezi:

• Ubunzima bokunyuka izinyuko.
• Ubunzima bokuhamba, kwaye ubunzima buyanda ngokuhamba kwexesha.
• Ukuncipha kwamandla okwenza umthambo (ukuziva udiniwe nokuba ukhe wazama kancinci).
• Iintlungu zemisipha kunye/okanye ukuxhuzula kwemisipha (njengokukrala).
• Ukuwa rhoqo.
• Ukuhamba ngeenyawo.
• Ukuziva udiniwe ngalo lonke ixesha (Ukudinwa).

Khawucinge nje, ukuba umntwana wakho akasabaleki kwaye akadlali njengangaphambili, aze athi "Mama, ndidiniwe" nokuba sele ehamba okwethutyana, okanye ukuba udinwa ngokukhawuleza kunabanye abantwana xa edlala esikolweni, licebo elihle ukuba ukhathazeke kancinci ngaloo nto.

Ukongeza koku, i-BMD inokubangela ezinye iimpawu:

• I-Cardiomyopathy : Le yinto ekufuneka uyilumkele.
• Ubunzima bokuphefumla.
• Umahluko othile ekufundeni (njengokuthatha ixesha elide ukuqonda ezinye izinto kunezinye).
• Ukulahlekelwa yibhalansi yomzimba kunye nokulungelelana kwayo.

Abafazi abanesifo se-BMD banokuba ne-cardiomyopathy okanye ubuthathaka bemisipha obuncinci kakhulu. Kuqikelelwa ukuba malunga ne-22% yabo banesi sifo baya kuba neempawu, kodwa oku kuyahluka kakhulu kumntu nomntu.

Yintoni ebangela i-`(Becker Muscular Dystrophy)`?

I-BMD yimeko yemfuza efunyanwa njengelifa. Ibangelwa kukuguquka kwejini okudala iproteni ebizwa ngokuba yi-dystrophin. I-Dystrophin ibalulekile ekugcineni iiseli zemisipha emizimbeni yethu zomelele kwaye zizinzile.

Ngoko ke, xa kukho utshintsho kule gene `(dystrophin)`, iproteni `(dystrophin)` ayiveliswa, okanye ubungakanani beproteni buyancipha kakhulu. Ngenxa yoko, ngokuhamba kwexesha, izihlunu ziba buthathaka kwaye ziqale ukonakala.

I-Becker Muscular Dystrophy izuzwa njani njengelifa? Le yinto ekufuneka uyiqonde kancinci!

`(BMD)` izuzwe ngendlela ebizwa ngokuba yi`(X-linked recessive inheritance)`. Ngoku masiqonde oku ngokulula.

• I-X-linked ithetha ukuba i-gene ebangela i-BMD ikwi-chromosome ye-X. Njengoko usazi, sinee-chromosome ezimbini zesini, u-X no-Y.
• I-Recessive ithetha ukuba ukuze esi sifo senzeke, zombini iikopi ze-gene efanelekileyo (sineekopi ezimbini phantse ze-gene nganye) kufuneka zibe nohlobo oluthile lwe-pathogenic okanye utshintsho olubangela isifo.

Kodwa nantsi eyona nto ibalulekileyo:

• Amadoda (XY) ane-chromosome enye ye-X. Ngoko ke, ukuba kukho isiphene kwi-gene efanelekileyo kuloo chromosome enye ye-X, kwanele ukubangela `(BMD)`.
• Abafazi bane-chromosomes ezimbini ze-X (XX) . Ngoko ke ukuze kubekho isifo esiqhagamshelweyo se-X, ngokuqhelekileyo zombini iikopi ze-gene kufuneka zibe neziphene. Nangona kunjalo, abafazi abane-gene enesiphene kwi-chromosome enye ye-X babizwa ngokuba "ngabathwali." Uninzi lwexesha, aba bathwali ababonisi zimpawu. Nangona kunjalo, kunqabile kakhulu ukuba kubekho iimpawu ezibuthathaka okanye eziphakathi.

Ngoku jonga indlela oku kwehla ngayo kwizizukulwana ngezizukulwana:

• Kumama othwala esi sifo (one-gene enesiphene kwi-chromosome enye ye-X) :
• Ukuba kuzelwe unyana, kukho amathuba angama-50% okuba unyana abe nesi sifo `(BMD)`.
• Ukuba unentombi, kukho amathuba angama-50% okuba ibe ngunobangela wolu bhubhane.
• Kutata one-BMD :
• Akanakudlulisela esi sifo koonyana bakhe (kuba utata udlulisela i-chromosome Y kunyana).
• Kodwa zonke iintombi zakhe ziya kuba ngabathwali (kuba utata unika intombi i-chromosome X enesiphene).

Uyaqonda? Oku kungabonakala kunzima kancinci, kodwa ngokufutshane, inkwenkwe inokufumana oku kumama wayo, ukuba umama wayo unesi sifo.

Ifunyanwa njani i-`(Becker Muscular Dystrophy)`?

Ukuba wena okanye umntwana wakho kurhanelwa ukuba une-BMD, ugqirha wakho uya kwenza uvavanyo lomzimba, uvavanyo lwemithambo-luvo, kunye novavanyo lwemisipha. Baza kukubuza nangeempawu zakho kunye nembali yakho yezonyango, kuquka nokuba kukho nabani na kusapho lwakho okhe waba neemeko ezifanayo.

Ngexesha lovavanyo, ugqirha angabona izinto ezifana nezi:

• Izihlunu emilenzeni nasezinqeni ziye zashwabana.
• Nangona izihlunu ezikwindawo yempundu zisenokubonakala zinkulu xa uzijonga okokuqala (oku kubizwa ngokuba yi- "pseudohypertrophy" ), zibuthathaka ngokwenene. Kungathi zidumbile ngaphakathi.
• Ukugoba komqolo (i-scoliosis) kunye nokukhubazeka okuthile kwesifuba.
• Ukungasebenzi kakuhle kwemisipha, umzekelo, ukuqina okungapheliyo kwemisipha, imisipha, kunye nolusu kwizithende nasemilenzeni (ii-contractures) .

Zeziphi iimvavanyo ezisetyenziselwa ukuxilonga `(Becker Muscular Dystrophy)`?

Ukuba ugqirha wakho ukrokrela ukuba wena okanye umntwana wakho une-BMD, banokucebisa ukuba kwenziwe ezi mvavanyo zilandelayo:

• Uvavanyo lwegazi lwe-Creatine kinase: Xa izihlunu zonakele, zikhupha i-enzyme ebizwa ngokuba yi-creatine kinase egazini. Umntu one-BMD unokuba nenqanaba lale creatine kinase izihlandlo ezihlanu nangaphezulu kunesiqhelo.
• Uvavanyo lwegazi oluvela kwimfuza: Olu vavanyo lwemfuza, olujonga utshintsho kwimfuza yeDystrophin, lunokuyixilonga ngokuqinisekileyo i-BMD.

Ukuba wena okanye umntwana wakho niqinisekisiwe ukuba nine-BMD, ugqirha wakho unokucebisa ukuba nithathwe i -Electrocardiogram (EKG) okanye i-Echocardiogram ukujonga iingxaki zemisipha yentliziyo ezinokubangelwa yi-BMD.

Iphathwa njani iBecker Muscular Dystrophy?

Ngelishwa, okwangoku akukho nyango lwe-BMD. Ke ngoko, injongo ephambili yonyango kukulawula iimpawu nokugcina umgangatho wobomi ungcono kangangoko.

Kukho iindlela ezimbini eziphambili zonyango lwe-BMD:

1. Ii-Corticosteroids: Umzekelo, amayeza afana ne-prednisolone. La mayeza anceda ukuphucula ukusebenza kwemiphunga, anciphise uphuhliso lwe-scoliosis, anciphise uphuhliso lwe-cardiomyopathy, kwaye andise ixesha lokuphila.

2. Ukuvuselelwa: Oku kunceda isigulana ukuba sigcine amandla aso okusebenza ixesha elide kwaye siphucule umgangatho wobomi baso.

• Unyango lomzimba lunceda ukuqinisa izihlunu.
• Unyango lokuthetha, unyango lomsebenzi, kunye nonyango lokuzonwabisa lunokunceda kwimisebenzi yemihla ngemihla.

Ukongeza koku, kukho ezinye iindlela zonyango ezinokunceda kwi-BMD:

• Izinto ezinceda ekuhambeni kwezinto ezifana nokuhamba - umz. iintonga, izitulo ezinamavili, izixhaso zokuxhasa umzimba.
• Amayeza `(Cardiomyopathy)` - umz. `(ACE inhibitors)` kunye `(beta-blockers)` .
• Utyando lokunceda kwi-scoliosis kunye nokuqunjelwa.
• Ukuba ubunzima bokuphefumla buba nzima (ukusilela kokuphefumla) , i-tracheostomy (inkqubo yotyando yokuvula i-trachea) kunye nokuphefumla okwenziweyo kunokufuneka.

Iindaba ezimnandi zezokuba amayeza amatsha amaninzi okunyanga i-`(BMD)` okwangoku avavanywa ngokwezonyango kwaye asenokubonakala ethembisa kwixesha elizayo. (Impazamo yokuguqulela kumthombo, kufuneka ibe yiSinhala: Iindaba ezimnandi zezokuba amayeza amatsha amaninzi okunyanga i-`(BMD)` okwangoku avavanywa ngokwezonyango. Asenokubonakala ethembisa kwixesha elizayo.)

Ngethamsanqa, amayeza amatsha amaninzi anokunyanga i-BMD okwangoku akwizilingo zeklinikhi, kwaye singalindela iziphumo ezilungileyo kuwo kwixesha elizayo.

Ngaba iBecker Muscular Dystrophy inokuthintelwa?

Ekubeni i-BMD iyinto efunyanwa njengelifa, akukho nto sinokuyenza ukuyithintela.

Nangona kunjalo, ukuba une-BMD, okanye ukuba ukhathazekile ukuba usenokuba ne-BMD okanye esinye isifo semfuza, thetha nogqirha wakho ngayo ngaphambi kokuba ube nabantwana.Kulungile kakhulu ukufumana ingcebiso ngemfuza.

Ithini ingqikelelo ye-Becker Muscular Dystrophy?

Imbono yomntu one-BMD inokwahluka kumntu nomntu. Olu luqhubekeko oluhamba kancinci kancinci lokukhubazeka. Nangona kunjalo, ubunzima bokukhubazeka buyahluka. Abanye abantu banokufuna isitulo esinamavili, ngelixa abanye banokufuna ukusebenzisa izixhobo zokuhamba kuphela (iintonga, iintonga).

Nangona kunjalo, ukuba umntu one-"(BMD)`` unesifo sentliziyo okanye ubunzima bokuphefumla, ixesha lokuphila kwakhe linokuncipha.

Iingxaki ezinokubakho ngenxa ye-BMD zezi:

• Iingxaki zentliziyo, ingakumbi `(Cardiomyopathy)`.
• Ubunzima bokuphefumla obubangelwa bubuthathaka bemisipha yokuphefumla.
• I-pneumonia okanye ezinye izifo zokuphefumla.
• Ekuhambeni kwexesha, ukukhubazeka kuyanda aze umntu angakwazi ukwenza umsebenzi wakhe ngokuzimela.
• Ukuqhekeka kwamathambo.

Ingakanani iminyaka yobomi bomntu one-`(Becker Muscular Dystrophy)`?

Ixesha lokuphila komntu one-"BMD" lidla ngokufinyezwa kancinci. Oko kukuthi, phakathi kweminyaka engama-40 nama-50. I-"Dilated cardiomyopathy" (imeko apho izihlunu zentliziyo ziba buthathaka kwaye zande) yeyona nto iphambili ebangela ukufa.

Ndingamnyamekela njani umntu one-`(BMD)`? Okanye ndizinyamekela njani mna?

Ukuba une-BMD, kubalulekile ukufumana unyango olufanelekileyo ukuze uthintele okanye unyange iingxaki ze-BMD, ezifana nesifo sentliziyo kunye neengxaki zokuphefumla. Kunganceda nokujoyina iqela lenkxaso apho unokwabelana ngamava akho kwaye udibane nabanye abakuqondayo.

Ukuba unyamekela umntu one-BMD, kubalulekile ukuqinisekisa ukuba ufumana unyango olufanelekileyo, izixhobo zokuhamba azidingayo, kunye nonyango olumncedayo ukuba asebenze ngokuzimela. Nguwe omele ube ngummeli wakhe.

Ndifanele ndimbone nini ugqirha malunga ne-`(Becker Muscular Dystrophy)`?

Ukuba wena (okanye umntwana wakho) ufunyaniswe une-Becker Muscular Dystrophy, kubaluleke kakhulu ukubona iqela lakho lezonyango rhoqo ukuze ufumane unyango kwaye ujonge iimpawu zakho.

Siyazi ukuba ukuxilongwa okufana neBecker Muscular Dystrophy akulula ukukuqonda nokujamelana nako. Kunokuba nzima kakhulu. Iqela lakho lezonyango liza kukunika isicwangciso solawulo esiqinileyo esilungiselelwe iimpawu zakho. Kubalulekile ukuqinisekisa ukuba ufumana inkxaso oyifunayo kwaye uyayikhathalela impilo yakho.

Ngamafutshane, izinto ekufuneka sizikhumbule (Umyalezo Wokubuyela Ekhaya)

Kulungile, nazi izinto ezilula ekufuneka uzikhumbule malunga ne-`(Becker Muscular Dystrophy)` okanye `(BMD)` esithethe ngazo:

• ``(BMD)`` sisifo semfuza esidluliselwa kwizizukulwana ngezizukulwana. Kule meko, izihlunu ziya zisiba buthathaka kancinci kancinci.
• OkuIchaphazela kakhulu amadoda.
• Unobangela sisiphene kwijini eyenza iproteni ethi "dystrophin".
• Iimpawu zihlala ziqala ebuntwaneni (phakathi kweminyaka emi-5 neli-15). Iimpawu ziquka ubunzima bokuhamba, ukudinwa, kunye nokuwa rhoqo.
• I-Cardiomyopathy (isifo semisipha yentliziyo) kunye nokuphazamiseka kokuphefumla kunokuba ziingxaki ezinkulu zale meko.
• Okwangoku akukho nyango lwale meko. Nangona kunjalo, kukho iindlela ezahlukeneyo zonyango ezikhoyo zokulawula iimpawu kunye nokuphucula umgangatho wobomi (umz., ii-corticosteroids, unyango lomzimba).
• Ukuba kukho umntu kusapho onale meko, kuya kuba bubulumko ukufuna iingcebiso ngemfuza ngaphambi kokuba nomntwana.
• Kukwabaluleke kakhulu ukufuna iingcebiso zonyango rhoqo kunye nonyango, kunye nokuhlala uphilile engqondweni.

Ungalibali, awuwedwa. Xa udlula kule meko, funa uncedo koogqirha, kusapho, kubahlobo, nakumaqela enkxaso. Iya kuba ngumthombo omkhulu wamandla kuwe!

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I- Becker muscular dystrophy, i-BMD, ubuthathaka bemisipha, izifo zemfuza, i-dystrophin, i-X-linked, utshintsho lwemfuza, impilo yomntwana, isifo sentliziyo, unyango lomzimba