Ese imitsi y'umwana wawe isa n'aho igenda irushaho kugabanuka? Menya ibijyanye na Duchenne Muscular Dystrophy (DMD)

Ushobora kuba warabonye ko umwana wawe atangiye kugorwa no kugenda no kuzamuka ingazi kuva akiruka no gukina. Cyangwa wumva ahora agwa kandi yumva ananiwe cyane? Ibi bishobora gusa n'ibintu bito tutitaho cyane, ariko bishobora kuba ibimenyetso bya mbere by'indwara zikomeye. Ibyo nibyo tugiye kuvugaho uyu munsi, indwara igabanya imitsi buhoro buhoro, cyane cyane mu bahungu.

Duchenne Muscular Dystrophy (DMD) ni iki?

Mu magambo make, Duchenne muscular dystrophy, cyangwa DMD mu magambo ahinnye, ni indwara aho imitsi y'amagufwa mu mubiri wacu, imitsi ifasha mu kwimura ingingo zacu, n'imitsi y'umutima, igenda icika intege buhoro buhoro ikagenda idakora uko igihe kigenda. Ubu ni bwo bwoko bukunze kugaragara kandi bukabije bwa muscular dystrophy .

Tekereza kuri ubu buryo: imitsi yacu imeze nk'imigozi ya elastic. Muri iyi ndwara, imbaraga z'iyo mitsi ya elastic ziragabanuka kandi ntizigikora neza. Uko igihe kigenda gihita, iyi ndwara irushaho kuba mbi, ntabwo irushaho kuba nziza.

DMD akenshi iba ari indwara y’ibisekuru, bivuze ko ihererekanywa kuva ku gisekuru kijya ku kindi . By’umwihariko, yandura nk’ikimenyetso cya X-linked recessive . Ibi bivuze ko niba umubyeyi ari we ufata iyi ndwara, umwana we ashobora kuyirwara. Ariko, mu bihe bimwe na bimwe, hafi 30% by’abayirwaye, iyi ndwara ishobora no guterwa n’impinduka nshya mu miterere y’ibisekuru , nubwo nta muntu n’umwe mu muryango wigeze ayirwara mbere. Ibi bivuze ko rimwe na rimwe ishobora no kubaho ku buryo butunguranye.

Ni nde wibasirwa cyane n'iyi ndwara ya DMD?

Indwara ya Duchenne muscular dystrophy yibasira cyane abahungu . Ariko, abakobwa batwara ingirabuzimafatizo itera iyi ndwara bashobora kugaragaza ibimenyetso byoroheje. Ariko, ibi ntibikunze kubaho cyane.

Ibimenyetso by'intege nke z'imitsi akenshi bitangira hagati y'imyaka 2 na 4. Ariko, bamwe mu bana bashobora kutagaragaza ibi bimenyetso kugeza bagejeje ku myaka 6. Kubwibyo, niba ufite gushidikanya, ni byiza gushaka inama kwa muganga.

Indwara ya DMD ikunze kugaragara gute?

Nubwo iyi ari indwara ikomeye, ntabwo ari isanzwe nkuko umuntu yabitekereza. Imibare igaragaza ko hafi umwe mu bana 3.600 b'abahungu bavutse ari bazima ku isi arwaye indwara ya DMD. DMD ni imwe mu ndwara zikunze kugaragara cyane mu ndwara zikomeye, zikomoka ku mitsi cyangwa imitsi y'amagufwa.

Ese indwara ya DMD ni indwara yica?

Yego, ikibabaje ni uko indwara ya DMD amaherezo yica.Indi ndwara. Abantu benshi bafite iyi ndwara bapfa bazize ibibazo byo mu bihaha no mu mutima. Ariko ntugahangayike, hamwe n'ubuvuzi buriho ubu, hari uburyo bwo kongera iminsi yo kubaho no gukomeza kugira ubuzima bwiza.

Ni ibihe bimenyetso by'indwara ya DMD?

Nkuko twabivuze mbere, ibimenyetso bya DMD bikunze gutangirira hagati y’imyaka 2 na 4. Ariko, rimwe na rimwe bishobora gutangira kuva mu bwana, cyangwa bikagaragara nyuma y’ubwana.

Kubera ko indwara ya DMD ituma intege nke z'imitsi zigabanuka uko igihe kigenda gihita, ibimenyetso bikunze kugaragara ni ibi bikurikira:

• Intege nke z'imitsi no gucika intege (gucika intege kw'imitsi) bigenda byiyongera buhoro buhoro, bitangirira ku maguru no mu kibuno. Iyi ndwara igira ingaruka ku maboko, ijosi, n'ibindi bice by'umubiri ku rugero ruto.
• Hypertrophy y'imitsi y'inyana (bivuze ko imitsi y'inyana iba minini). Ibi bibaho iyo imitsi y'inyama isimbuwe n'ibinure n'ingingo zihuza.
• Kugorana kuzamuka ingazi.
• Kugorwa no kugenda uko igihe kigenda.
• Gugwa kenshi.
• Ingendo yo kuzenguruka mu mazi.
• Kugenda n'amaguru.
• Kumva unaniwe vuba (umunaniro).

Tekereza, niba umuhungu wawe ahagurutse avuye gukina hasi, agakanda amaboko ye hasi, hanyuma agashyira amaboko ye ku mavi ye, maze agaterura umubiri we buhoro buhoro bimugoye cyane, ibyo bishobora kuba ikimenyetso cy'iyi ndwara (iki kandi cyitwa ikimenyetso cya Gowers).

Uretse ibi, DMD ishobora gutera ibindi bimenyetso:

• Indwara z'imitsi y'umutima (Cardiomyopathy).
• Kugorwa no guhumeka no kubura umwuka.
• Ubumuga bwo mu mutwe n'itandukaniro mu myigire.
• Gutinda mu mivugire no mu iterambere ry'ururimi.
• Gutinda mu iterambere.
• Indwara ya Scoliose.
• Mugufi.

Hagati ya 2.5% na 20% by'abakobwa bafite ingirabuzimafatizo zitera DMD (abatwara) bashobora kugira ibimenyetso byoroheje, ariko akenshi ntibiba bikomeye.

Kuki ikintu nk'iki cya DMD kibaho?

Impamvu nyamukuru itera DMD ni impinduka mu ngirabuzimafatizo ikora dystrophine, poroteyine y'ingenzi kugira ngo imitsi yacu ikomeze kugira ubuzima bwiza. Iyi poroteyine, dystrophin, ni ingenzi kuri dystrophin-glycoprotein complex (DGC), ikora nk'igice cy'imitsi.

Muri DMD, poroteyine za dystrophine na DGC zirabura, amaherezo bigatera urupfu rw'uturemangingo tw'imitsi (necrosis).Umuntu urwaye DMD aba afite munsi ya 5% by'ingano ya dystrophine ikenewe kugira ngo imitsi igire ubuzima bwiza.

Uko abantu bafite DMD bakura, imitsi yabo ntishobora gusimbuza utwo turemangingo twapfuye n'utundi dushya. Ahubwo , ingirangingo zihuza umubiri n'ingirangingo zigabanya amavuta zisimbura imitsi.

Nkuko twabivuze mbere, DMD ni indwara iterwa na X-linked recessive . Ariko, mu bantu bagera kuri 30%, ishobora no kubaho ku buryo butunguranye, nta mateka y’umuryango.

"X-linked" bivuze ko gene itera DMD iherereye kuri chromosome X. Nkuko mubizi, abagabo bafite chromosome imwe ya X na chromosome imwe ya Y, naho abagore bafite chromosome ebyiri za X.

"Recessive" bivuze ko umuntu azarwara iyi ndwara gusa iyo afite kopi ebyiri za gene itera iyi ndwara. Ariko abagabo bafite chromosome imwe ya X. Rero niba gene mutation itera DMD iri kuri iyo chromosome ya X, bazarwara DMD. Kugira ngo umukobwa arware DMD, agomba kuba afite iyi mutation ya gene kuri chromosomes ze zombi za X. Ibyo ni gake cyane. Ariko niba afite iyo mutation kuri chromosome imwe ya X gusa, azaba ari we utwara iyi ndwara.

Ni gute indwara ya DMD ipimwa?

Niba umwana wawe agaragaje ibimenyetso bya DMD, muganga azabanza kumukorera isuzuma ry’umubiri , isuzuma ry’imitsi, n’isuzuma ry’imitsi . Bazamubaza kandi ibimenyetso by’umwana wawe n’amateka ye y’ubuzima.

Iyo muganga akeka ko umwana afite indwara ya DMD, ibizamini bikurikira bishobora gukorwa:

• Ikizamini cy'amaraso cya Creatine Kinase (CK): Iyo imitsi yangiritse, enzyme yitwa creatine kinase irakomeza kwiyongera mu maraso. Rero, iyo urugero rwa CK ruri hejuru, bishobora kuba ikimenyetso cya DMD. Uru rugero rukunze kuzamuka cyane mu myaka 2, kandi rushobora kuba hejuru inshuro 10-20 ugereranyije n'ibisanzwe.
• Isuzuma ry'amaraso ya genetike: DMD ishobora kwemezwa n'isuzuma ry'imiterere y'umubiri rigaragaza ko gene ya dystrophine yatakaye burundu cyangwa igice cyayo.
• Gupima imitsi: Muganga ashobora gufata ingero nto y'imitsi yo mu itako ry'umwana wawe cyangwa inyana ye. Inzobere izareba ingero ikoresheje mikorosikopi kugira ngo irebe niba hari ibimenyetso bya DMD.
• Electrocardiogram (EKG): Kubera ko DMD ikunze kugira ingaruka ku mutima, muganga azakoresha EKG kugira ngo arebe ibimenyetso byihariye bya DMD no gusuzuma ubuzima bw'umutima.

Ni ubuhe buryo bwo kuvura ibi?

Ikibabaje ni uko nta muti uhari wa DMD. Bityo rero, intego nyamukuru yo kuvura ni ukugenzura ibimenyetso no kubungabunga ubuzima bw'umwana uko bishoboka kose.

Ubu buryo bukurikira ni uburyo bwo kuvura indwara ya DMD:

• Corticosteroids: Imiti ya steroid, nka prednisolone na deflazacort , ifasha kugabanya gutakaza imitsi, kunoza imikorere y'ibihaha, kugabanya gucika intege kw'imitsi y'umutima (cardiomyopathy), no kongera igihe cyo kubaho.
• Imiti ivura indwara z'umutima: Gutangira gukoresha imiti nka ACE inhibitors cyangwa beta-blockers hakiri kare bishobora kugenzura intege nke z'imitsi y'umutima no gukumira indwara z'umutima.
• Ubuvuzi bw'umubiri: Intego nyamukuru y'ubuvuzi bw'umubiri ni ukwirinda gufungana kw'imitsi , imitsi n'uruhu burundu. Ibi akenshi biba bikubiyemo imyitozo ngororamubiri yihariye yo kunanura imitsi.
• Kubagwa kw'imitsi ifunganye mu mugongo no kuyifunga: Mu bihe bikomeye, kubagwa bishobora kuba ngombwa kugira ngo imitsi ifunganye. Kubagwa kugira ngo imitsi ikosorwe neza bishobora kunoza imikorere y'ibihaha no guhumeka neza.
• Imyitozo ngororamubiri: Muganga w'umwana wawe akunze kukugira inama yo gukora imyitozo ngororamubiri yoroheje kugira ngo wirinde ko imitsi ikomeza kugabanuka. Ibi bikunze gukorwa hamwe n'imyitozo ngororamubiri yo mu bwoko bwa pisine n'imyidagaduro.

Ubundi buryo bwo kuvura bufasha burimo:

• Ibikoresho byo kwifashisha mu kugenda: ibyuma bifasha mu kugenda, inkoni, n'intebe z'abamugaye.
• Tracheostomy no gufasha guhumeka neza mu bibazo by'ubuhumekero.

Mu myaka mike ishize, icyizere cyo kubaho cy’abantu barwaye indwara ya DMD cyariyongereye cyane bitewe n’iterambere rya serivisi z’ubuvuzi bufasha.

Imiti myinshi mishya iri mu igeragezwa ry’ubuvuzi ishobora gutanga icyizere cyo kuvura indwara zo mu mutwe. Uburyo bushya butandukanye bwo kuvura, nka "exon skipping" (uburyo "buhuza" igice cya gene ya dystrophin cyabuze cyangwa cyahinduye), buherutse kwemezwa na FDA (Ikigo gishinzwe ibiribwa n'imiti) . Ariko, ubu buryo bushobora gukoreshwa gusa ku bantu bake bafite impinduka mu miterere y’uturemangingo. Nubwo ubu buryo bwo kuvura bwongera ingano ya poroteyine ya dystrophin mu mitsi, ntabwo buragaragaza iterambere rigaragara mu mbaraga no mu mikorere y’umubiri.

Ese iyi ndwara ya DMD ishobora kwirindwa?

Kubera ko indwara ya DMD ari indwara ivuka mu murage, nta kintu na kimwe wakora kugira ngo uyirinde . Hafi kimwe cya gatatu cy'abarwayi bandura indwara bahura na yo ku buryo butunguranye, nta mateka y'umuryango bafite.

Niba uhangayikishijwe n'ibyago byo kwanduza abana bawe indwara ya DMD cyangwa izindi ndwara zikomoka ku ngirabuzimafatizo mbere yo kugerageza kubyara, tekereza ku bujyanama ku ngirabuzimafatizo.Vugana na muganga wawe kuri ibi. Hari igihe gupima mbere yo gutwita hakiri kare bishobora gutuma umuntu amenya indwara ya DMD.

Ni ibihe bintu bishobora kwitezwe mu gihe kizaza (Ibibazo)?

Abantu barwaye DMD bakunze kugira ikibazo cyo kutamenya neza uko indwara igenda itera . Ibi bitera ubumuga bukomeza kwiyongera, kandi abana benshi barwaye DMD baba bafite ubumuga bwo mu kagare ku myaka 12. DMD ishobora no gutuma umuntu apfa hakiri kare.

Imyaka yo kubaho y'umuntu urwaye indwara ya DMD ni iyihe?

Abantu barwaye indwara ya DMD bakunze gupfa bazize iyo ndwara bafite imyaka 25. Ariko, bitewe n’iterambere mu buvuzi bufasha, abantu benshi ubu bararamba.

Urupfu rukunze guterwa n’ibibazo by’ubuhumekero (guhumeka) cyangwa umutima. Ibihaha, guhumeka kw’ikintu cy’amahanga nk’ibiryo, cyangwa kuziba kw’imiyoboro y’ubuhumekero nabyo bishobora gutera urupfu.

Ni gute wita ku muntu urwaye indwara ya DMD?

Niba wita ku muntu urwaye indwara ya DMD, ni ngombwa kumukorera ubuvugizi, ukamufasha kubona ubuvuzi bwiza n'ubuvuzi bwiza bushoboka , kugira ngo agire ubuzima bwiza bushoboka.

Bishobora kandi kuba byiza kuri wewe n'umuryango wawe kwinjira mu itsinda ry'abaterankunga kugira ngo muhure n'abandi bantu bahuye n'ibintu nk'ibyo. Bishobora kandi kuba inkunga ikomeye kumenya ko utari wenyine.

Ni ryari umwana wanjye agomba kujya kwa muganga ku bijyanye n'indwara ya DMD?

Niba umwana wawe yarasanzwe arwaye indwara ya DMD, azakenera kujya kwa muganga buri gihe kugira ngo ahabwe ubuvuzi kandi akurikirane ibimenyetso.

Gusobanukirwa indwara y'umwana wawe ya DMD bishobora kugorana kuri wewe. Ariko itsinda ry'abaganga rizaguha gahunda y'ubuvuzi ijyanye n'ibimenyetso by'umwana wawe. Ni ngombwa gukurikirana ubuzima bw'umwana wawe no kumenya neza ko abona ubufasha akeneye. Wibuke ko itsinda ry'abaganga rirahari kugira ngo rigufashe, umuryango wawe n'umwana wawe.

Amaherezo, ibuka ibi (Ubutumwa bwo kujyana mu rugo)

Indwara ya Duchenne muscular dystrophy (DMD) ni indwara ikomeye kandi ifata ubuzima bwose. Ariko, kumenya, kuyimenya hakiri kare, no kugira inama z’abaganga zikwiye ndetse no kwita ku buzima bw’umwana bishobora gufasha umwana gukomeza kugira ubuzima bwiza uko bishoboka kose.

Ibuka: Nturi wenyine. Abaganga, abaganga b'imitsi, abajyanama, n'andi matsinda y'ubufasha barahari kugira ngo bagufashe wowe n'umwana wawe. Ubushakashatsi ku buvuzi bushya buhora bukorwa. Rero ntucike intege. Ikintu cy'ingenzi ni uguha umwana wawe urukundo, ubwitonzi, no kumutera inkunga.

Niba ufite impungenge ku mitsi y'umwana wawe cyangwa ingorane zo kugenda, ntukabifate nk'ikintu gito.Shaka umuganga wujuje ibisabwa kugira ngo akugire inama. Uko indwara igaragaye vuba, niko bizarushaho koroha kuyifata.

` Duchenne muscular dystrophy, DMD, intege nke z'imitsi, indwara za genetiki, indwara z'abahungu, dystrophine, ubuzima bw'abana