Ese imitsi yawe igenda icika intege buhoro buhoro? Reka tuvuge kuri Muscular Dystrophy

Ese wowe cyangwa umuntu wo mu muryango wawe, cyane cyane umwana, mwabonye ko umubiri wanyu ugenda utakaza imbaraga buhoro buhoro? Wenda byaragoye kugenda, kwiruka, cyangwa kuzamuka ingazi. Ese wigeze ugira ingorane zo guhaguruka wicaye, ukoresha amaboko yawe ukanda hasi n'amavi yawe kugira ngo uhaguruke? Niba ufite ibi bimenyetso, tugiye kuvuga ku mpamvu imwe ishobora kuba itera uyu munsi. Iyo ni indwara yo kubura imitsi. Ntugatinye iyo wumvise izina. Reka tubiganireho mu buryo bworoshye, mu buryo buri wese ashobora gusobanukirwa.

Kurwara kw'imitsi ni iki?

Muri make, indwara yo mu mitsi ni itsinda ry’indwara zirenga 30 ziterwa n’uturemangingo zigira ingaruka ku mikorere y’imitsi yacu, zigatuma igabanuka buhoro buhoro. "Genetic" bivuze ko ishobora guhererekanywa kuva ku gisekuru kugeza ku kindi. Muri ibi bihe, umubiri utakaza ubushobozi bwo gukora poroteyine zikenewe kugira ngo imitsi ikomeze kugira ubuzima bwiza. Kubera iyo mpamvu, imitsi itakaza imbaraga uko igihe kigenda gihita kandi igagabanuka.

Iyi ni indwara yitwa myopathy, bivuze ko igira ingaruka ku mitsi ifatanye n'amagufwa yacu. Bitewe n'ubwoko bw'indwara, ishobora kugira ingaruka ku bushobozi bwawe bwo kugenda, kwimuka no gukora imirimo ya buri munsi. Ishobora kandi kugira ingaruka ku mitsi ifasha umutima wacu n'ibihaha gukora neza.

Hari ubwoko bumwe na bumwe bw'indwara yo kubura imitsi buvukanwa cyangwa bugaragara mu bwana. Ubundi bwoko bugaragara mu bantu bakuru.

Ni ubuhe bwoko bw'ingenzi bwa dystrophy y'imitsi?

Nkuko twabivuze mbere, hari ubwoko burenga 30 bw'ibi. Ariko reka tuvuge ku bwoko bumwe na bumwe busanzwe tubona kenshi. Bizakoroha gusobanukirwa ibi bisobanuro mu mbonerahamwe.

Ni ibihe bimenyetso by'indwara yo kubura imitsi?

Ibimenyetso by'iyi ndwara bishobora gutandukana cyane bitewe n'ubwoko bwayo. ArikoIkimenyetso nyamukuru ni intege nke z'imitsi n'ibindi bibazo bifitanye isano. Ibi bimenyetso akenshi byiyongera buhoro buhoro uko igihe kigenda gihita.

Reka tugabanye ibi bimenyetso mo ibice bibiri.

Kuki iyi ndwara ibaho? Ni iyihe mpamvu?

Impamvu nyamukuru ibi ni impinduka (mutations) mu ngirabuzimafatizo.

Tekereza ko imitsi yacu ifite igishushanyo mbonera cyitwa genes gituma ikomeza kugira ubuzima bwiza kandi ikagira imbaraga. Iyo habayeho impinduka cyangwa impinduka muri izi genes, iyo shusho mbonera irahungabana. Hanyuma uturemangingo dukomeza kandi tukubaka imitsi ntishobora gukora akazi kayo neza. Ingaruka ni uko imitsi igenda icika intege buhoro buhoro.

Hari uburyo butatu iyi ndwara ikwirakwizwamo.

• Umurage wo mu buryo bw’impinduka: Muri ubu buryo, umwana agomba kuragwa gene ifite inenge ivuye ku babyeyi bombi kugira ngo indwara igaragare.
• Umurage ukomeye: Aha, gene ifite inenge kugira ngo indwara igaragare igomba kuragwa n'umubyeyi umwe .
• Umurage ushingiye ku gitsina (X-linked): Ibi biragoye kurushaho. Abagore bafite chromosome ebyiri za X (XX), mu gihe abagabo bafite chromosome imwe ya X n'imwe ya Y (XY). Ingirabuzimafatizo y'iyi ndwara iri kuri chromosome ya X. Abagabo bafite chromosome imwe ya X gusa, bityo iyo ifite inenge, indwara izahita ikura. Abagore bafite chromosome ebyiri za X, bityo iyo imwe ifite inenge, indi chromosome ya X nzima ishobora kudatera ibimenyetso cyangwa igatera ibimenyetso byoroheje cyane. Ubwoko bubiri, Duchenne na Becker, buraragwa muri ubu buryo.

Ni gake cyane, iyi ndwara ishobora guterwa n’impinduka mu buryo butunguranye mu mubiri w’umwana (de novo mutation), nta nenge ifite mu ngirabuzimafatizo z’ababyeyi.

Wamenya ute niba ufite iyi ndwara?

Niba wowe cyangwa umwana wawe mufite kimwe muri ibi bimenyetso, ikintu cya mbere mugomba gukora ni ukubonana n'umuganga w'inararibonye. Muganga azabanza agusuzume neza, akubaze ibimenyetso byawe n'amateka y'umuryango wawe, hanyuma aguhe inama yo gupimwa inshuro nyinshi kugira ngo yemeze ko ari indwara.

• Isuzuma ry'amaraso ya Creatine kinase: Iyo imitsi yacu yangiritse, irekura enzyme yitwa creatine kinase mu maraso. Iyo urugero rw'iyi enzyme ruri hejuru mu maraso, ni ikimenyetso cy'uko imitsi yangiritse.
• Ibizamini bya genetike: Ibi bishobora kwemeza neza niba hari inenge mu ngirabuzimafatizo zijyanye no kurwara imitsi.
• Gupima imitsi: Ibi bikubiyemo gufata agace gato cyane k'umubiri mu mitsi no kugasuzuma hifashishijwe mikorosikopi. Ibi bishobora gufasha kumenya ibimenyetso by'indwara.
• Electromyography (EMG): Iki kizamini gipima imikorere y'amashanyarazi y'imitsi n'imitsi.

Bivurwa bite kandi bigacungwa bite?

Ikintu cya mbere kandi cy'ingenzi cyo kuvuga ni uko nta muti w'iyi ndwara uraboneka kugeza ubu. Abashakashatsi bakomeje kuyikoraho.

Uburyo bwo kuvura bushobora gutandukana bitewe n'ubwoko bw'indwara. Ibintu by'ingenzi bikorwa ni ibi bikurikira:

• Uburyo bwo kuvura umubiri n'akazi: Ubu buryo bufasha gukomeza imitsi no kongera ubushobozi bwo koroherwa. Ibi bishobora gufasha kugumana ubushobozi bwo kugenda igihe kirekire gishoboka.
• Corticosteroids: Imiti nka prednisolone ishobora gufasha kugabanya intege nke z'imitsi, kunoza imikorere y'ibihaha, kugabanya umuvuduko w'amagufwa, no gukomeza kubaho.
• Ibikoresho byo kugenda: Ibikoresho nk'inkoni, abagenda n'abamugaye bigufasha kugenda, kugenda no kwirinda kugwa.
• Kubagwa: Kubagwa bishobora kuba ngombwa kugira ngo imitsi ifatanye cyangwa gukosora scoliosis.
• Kwita ku mutima: Gutangira imiti hakiri kare nka ACE inhibitors na beta-blockers bishobora gufasha mu kugenzura kwangirika kw'imitsi y'umutima. Ibikoresho nka pacemakers nabyo bishobora gukenerwa.
• Ubuvuzi bwo kuvuga: Ibi bishobora gufasha abantu bafite ikibazo cyo kumira.
• Kwita ku guhumeka: Ibikoresho bifasha inkorora, imashini zifasha guhumeka, ndetse rimwe na rimwe n'ibikoresho bifasha guhumeka bishobora gukenerwa kugira ngo bifashe mu bihe bigoye guhumeka.

Vuba aha, hashyizweho imiti mishya ishobora guhindura uko indwara igenda muri bumwe mu bwoko, nka Duchenne muscular dystrophy.

Ubuzima bumeze bute kuri iyi ndwara?

Igihe ushobora kumarana n'iyi ndwara kiratandukanye cyane bitewe n'ubwoko bw'indwara. Urugero, abantu barwaye Duchenne muscular dystrophy (DMD) bakunze gupfa bafite imyaka 25. Ariko, hari ubwoko bumwe na bumwe, nka oculopharyngeal muscular dystrophy, ubusanzwe nta ngaruka bigira ku mibereho y'ubuzima. Kubwibyo, umuntu mwiza wo kumenya amakuru nyayo ku ndwara yawe ni muganga ukuvura.

Kubera ko iyi ari indwara iterwa n’uturemangingo, nta buryo bwo kuyirinda. Ariko, niba ufite iyi ndwara, cyangwa niba hari umuntu wo mu muryango wawe uyirwaye, ushobora kuvugana na muganga wawe ku bijyanye no kubona inama ku turemangingo mbere yo kubyara umwana.

Ibi bintu bishobora gufasha gukumira cyangwa gutinza ingorane ziterwa n'iyi ndwara no koroshya ubuzima:

• Kurya indyo yuzuye intungamubiri kandi ifite ubuzima bwiza.
• Nywa amazi menshi kugira ngo wirinde umwuma cyangwa impatwe.
• Kora imyitozo ngororamubiri uko bishoboka kose, nk'uko byasabwe n'ikipe y'abaganga bawe.
• Komeza kugira ibiro bizima.
• Niba unywa itabi, rekera aho. Rishobora kurinda ibihaha byawe n'umutima wawe.
• Ukingiwe ku gihe.

Kubana n'indwara nk'iyi bishobora kugorana kuri wowe n'umuryango wawe. Kubwibyo, menya neza ko ubona ubuvuzi bwiza n'ubuvuzi ukeneye. Nanone, kwiyandikisha mu matsinda y'abaterankunga n'abantu banyuze mu bintu bimwe nawe bishobora kuba isoko ikomeye y'imbaraga zo mu mutwe.