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OPMD (Oculopharyngeal Muscular Dystrophy) ni iki? Reka tubisobanukirwe mu buryo bworoshye.
Mu magambo make, Oculopharyngeal Muscular Dystrophy (OPMD) ni indwara idakunze kugaragara mu buryo bw'uturemangingo. Ikibaho muri ibi ni uko imwe mu mitsi yo mu mubiri wacu igenda icika intege buhoro buhoro. Tekereza, nubwo impinduka mu turemangingo zitera iyi ndwara ari ikintu tuvukana, akenshi ibimenyetso bitangira kugaragara mu myaka yo hagati, ni ukuvuga, ahagana mu myaka 40 cyangwa 50. Iyi OPMD iri mu itsinda ry'indwara zica intege imitsi yitwa Muscular Dystrophy . Izi ni indwara zihererekanywa kuva ku gisekuru kijya ku kindi, ni ukuvuga, zanduzwa binyuze mu turemangingo. OPMD yitwa "Oculopharyngeal", kandi ahanini igira ingaruka kuri:- Amaso - ni ukuvuga imitsi ikikije amaso.
- Inyama zo mu muhogo - Ibi bivuga imitsi yo mu muhogo idufasha kumira ibiryo no kuvuga.
OPMD ikunze kugaragara gute? Ni nde ushobora kuyirwara cyane?
Mu by’ukuri, nta mibare nyayo igaragaza umubare w’abantu ku isi bafite OPMD. Ariko, abahanga bavuga ko abantu bari hagati ya 3.000 na 30.000 muri Leta Zunze Ubumwe za Amerika bonyine bashobora kuba bafite iyi ndwara. Ibi bivuze ko ari indwara idakunze kugaragara. Nubwo OPMD ishobora kwandurira umuntu uwo ari we wese, ikunze kugaragara mu matsinda amwe n’amwe y’abantu. Urugero:- Mu Bayahudi bo mu bwoko bwa Bukharan muri Isirayeli (hafi umuntu umwe kuri buri bantu 700).
- Mu baturage b’Abafaransa n’Abanyakanada bo mu ntara ya Quebec, muri Kanada (hafi umuntu umwe ku bantu 1.000).
Ni ibihe bimenyetso bya OPMD? Ipimwa ite?
Nkuko twabiganiriyeho mbere, OPMD ifata cyane cyane amaso n'umuhogo. Bityo rero, intege nke mu mitsi y'amaso n'umuhogo bishobora gutera ibimenyetso nk'ibi:- Ijisho rinanutse ( Ptosis ) : Ijisho risa n'aho riremereye kandi ridashobora gufungurwa neza. Hari igihe amaso ashobora gufungana.
- IbiryoKugorwa no kumira ( Dysphagia ): Kumva ufite ikibyimba mu muhogo cyangwa kugorwa no kumira iyo uri kumira ibiryo cyangwa ibinyobwa. Iki ni cyo kimenyetso nyamukuru kandi giteye impungenge kigaragara muri OPMD.
- Kudatekereza neza : Guhinduka kw'ijwi, gushwanyagurika, cyangwa kugorwa no kuvuga neza.
- Kureba kabiri (Diplopia) : Ikintu kimwe gishobora kugaragara nk'ibiri.
- Ubunebwe bw'imitsi yo mu maso : Imitsi igenzura amarangamutima yo mu maso ishobora gucika intege.
- Kutabona neza no kudakora neza kw'amaso : Bishobora kugorana kurebesha amaso yawe hejuru.
- Gucika intege cyangwa gucika intege kw'imitsi y'ururimi : Ibi bishobora gutera ibintu nko kudashobora gukoresha ururimi neza no kugorwa no gutwara ibiryo mu kanwa.
- Agace k'ikibuno
- Amatugu
- Itako ryo hejuru
Bite ho iyo ibimenyetso bigaragaye mbere y'igihe byari byitezwe?
Ni gake cyane, hari abantu bashobora kugira ubwoko bukomeye bwa OPMD. Iki ni cyo gihe intege nke z'imitsi zitangira gukomera mbere y'imyaka 45. Muri ibyo bihe, ni ibisanzwe ko abantu badashobora kwigendera bonyine ku myaka 60. Byongeye kandi, bashobora guhura n'ibi bikurikira:- Ihungabana
- Ibinyoma (ibintu bisa nkaho atari ukuri)
- Kugabanuka k'ubwenge
- Ibibazo by'imitsi (Neuropathy)
Ni iki gitera OPMD?
OPMD ni indwara iterwa n'uturemangingo . Ibi bivuze ko iterwa n'impinduka mu turemangingo twacu tuvuka. Impinduka mu turemangingo itera OPMD ibaho muri gene ya PABPN1 . Iyi PABPN1Dushobora kuragwa ihinduka ry’uturemangingo kuva kuri mama, data, cyangwa bombi. Akenshi, umwe mu babyeyi b’umuntu ufite OPMD afite OPMD. Tekereza nawe, uturemangingo twinshi tuza turi babiri. Rero, dufite kopi ebyiri z’iyi gene ya PABPN1 muri ADN yacu. Kugira ngo OPMD ikore, birahagije kugira iyo hinduka ry’uturemangingo muri kopi imwe gusa y’iyi gene ya PABPN1 . Ariko, hari abantu bashobora kugira iyi hinduka ry’uturemangingo muri kopi zombi z’iyi gene ya PABPN1 . Muri abo bantu, ibimenyetso bya OPMD akenshi bishobora kuba bikomeye gato kandi bikagaragara kare.Wamenya ute neza ko ufite OPMD? (Isuzuma)
Niba ufite ibimenyetso bya OPMD, muganga wawe azabanza kugusuzuma akurikije ibimenyetso byawe. Hanyuma, azakora isuzuma ry'amaraso kugira ngo yemeze ko ari indwara. Ibi bizareba impinduka mu ngirabuzimafatizo ya PABPN1 . Byongeye kandi, muganga wawe ashobora no gukora ibizamini bikurikira:- Electromyograms (EMG) : Iki kizamini kireba uburyo imitsi yawe yitabira ibimenyetso by'imitsi. Ibi bikunze kuba birimo inyigo zo kuyobora imitsi no gusuzuma electrode y'urushinge.
- Gupima imitsi : Ibi bikubiyemo gufata urugero ruto rw'imitsi no kuyipima. Iyi biopsy y'imitsi ishobora gufasha kumenya impinduka mu ngirabuzimafatizo ya PABPN1 niba ibizamini by'amaraso bitarasobanuka neza.
- Ibizamini byo kumira : Niba ufite ikibazo cyo kumira ( dysphagia ), ibi bizamini bishakisha ibibazo by'imitsi yo mu muhogo wawe kugira ngo hamenyekane impamvu.
Ni ubuhe buryo bwo kuvura OPMD?
Uburyo bwo kuvura OPMD buratandukanye bitewe n'ibimenyetso byawe n'ubukana bwabyo. Ntugahangayike, hari uburyo butandukanye bwo kuvura bushobora kugufasha kugenzura ibimenyetso byawe.- Ubuvuzi bw'umubiri cyangwa ubw'akazi : Gukorana n'umuvuzi bishobora kugufasha kongera imbaraga no gukora imirimo ya buri munsi. Niba ufite ikibazo cyo kugenda bitewe n'intege nke z'imitsi, umuvuzi wawe ashobora kukugira inama yo gukoresha ibikoresho nk'inkoni , imitsi ifata amaguru, cyangwa ibyuma bifasha kugenda .
- Ubuvuzi bw'imivugire : Umuganga w'indwara zo kuvuga n'indimi ashobora kugufasha mu bibazo byo kumira no kuvuga biterwa na OPMD. Ingorane zo kumira zishobora kugabanuka no kurya ukoresheje utubuto duto, guhindura uburyo ufata umutwe, cyangwa guhindura uburyo urya.
- Inshinge z'uburozi bwa Botulinum : Muganga atera uburozi bwa botulinum mu mitsi iri hejuru y'umuhogo wawe.Ushobora guterwa urushinge. Ibi biruhura imitsi by'agateganyo, bigatuma byoroha kumira. Ariko kugira ngo ukomeze kugira ibi bisubizo, uzakenera guterwa uru rushinge buri mezi make.
- Gusana amenyo ya Blepharoptosis: Niba amaso yawe yazibye kubera ko amaso yawe yananutse ( ptosis ), muganga ashobora kukugira inama yo kubaga pulasitiki. Gusana amenyo ya Blepharoptosis ni uburyo bwo kuzamura amaso yawe kugira ngo ubashe kubona neza.
- Umuti wo mu muhogo : Ubu ni uburyo bwo kubaga. Umuganga ubaga agabanya gato mu muhogo wawe, cyane cyane mu mitsi yo mu muhogo, iri hejuru gato y'umuhogo . Ibi bifasha kuruhuka imitsi yo mu muhogo wawe, bigatuma ibiryo binyura mu muhogo wawe byoroshye.
- Kugaburira umuntu mu muyoboro w'amazi (Indyo yo mu mutima) : Niba bigoye kumira ( dysphagia ) bikomeye, umuyoboro w'amazi ushobora kuba uburyo bwiza bwo kuvura. Muganga ashyira uyu muyoboro mu mazuru cyangwa mu nda yawe maze akawushyira mu mara cyangwa mu nda yawe. Ibi bigufasha kubona intungamubiri ukeneye, unyura mu muhogo wawe burundu.
Igikuru ni ukuganira na muganga kugira ngo aguhitiremo uburyo bwiza bwo kuvura. Si uko abantu bose bameze kimwe.
Ese hari uburyo bushya bwo kuvura OPMD buri mu igeragezwa ry’ubuvuzi?
Yego, ushobora kuba wemerewe kuvurwa mu igerageza ry’ubuvuzi kuri OPMD. Ushobora kubaza muganga wawe ibi. Abaganga barimo gukoresha izindi nkingo kugira ngo bagabanye ibimenyetso bya OPMD. Ariko, abashakashatsi baracyari kwiga ingaruka z’igihe kirekire z’ubu buryo bwo kuvura.Ese hari uburyo bwo gukumira ko OPMD itera imbere?
Ikibabaje ni uko OPMD ari indwara iterwa n’uturemangingo, bityo nta buryo bwo kuyikumira. Ariko, niba umwe mu babyeyi bawe afite OPMD, ushobora gutekereza ku isuzuma ry’uturemangingo . Iki kizamini kireba ihindagurika ry’uturemangingo ritera OPMD. Umujyanama mu by’uturemangingo azagusobanurira ibyavuye mu isuzuma ryawe kandi azakwigisha ku ngaruka zo kwanduza abana bawe OPMD cyangwa izindi ndwara uvukana.Ejo hazaza ha muntu ufite OPMD hameze hate?
OPMD ishobora kugira ingaruka mbi ku mibereho yawe. Ariko, akenshi ntabwo igira ingaruka ku buzima bwawe. Ubuvuzi bushobora gufasha mu kugenzura ibimenyetso no kugabanya ibyago byo guhura n'ibibazo. Rero ntugahangayike.Ni izihe ngorane zishobora guterwa na OPMD?
Ingorane nyamukuru ya OPMD ifitanye isano no kugorwa no kumira. Ururimi rwawe n'imitsi yo mu muhogo biracika intege, bigatuma bigorana kurya. Ibi byongera ibyago byo:- Umusonga wo mu kirere (pneumonia iterwa n'ibiryo cyangwa amazi yinjira mu nzira z'ubuhumekero )
- Kumirwa
- Imirire mibi
Ni ibihe bibazo ngomba kubaza muganga wanjye?
Niba ufite OPMD, cyangwa utekereza ko ushobora kuyirwara, ni byiza kubaza muganga wawe ibibazo nk'ibi:- Ni ibihe bimenyetso bya mbere bya OPMD?
- Ni gute wasuzuma neza OPMD?
- Ni ubuhe buryo bwo kuvura OPMD?
- Ni izihe ngorane zishobora guterwa na OPMD?
- Ni amahirwe angahe ko abana banjye bazarwara indwara ya OPMD?
Ese OPMD ishobora no guteza urupfu?
OPMD ubwayo ntabwo igira ingaruka ku buzima bwawe. Ariko, iyo itavuwe, intege nke z'imitsi yo mu muhogo zishobora kongera ibyago byo kurwara indwara zishobora gushyira ubuzima bwawe mu kaga nko kubyimba cyangwa umusonga . Kubwibyo, ni ngombwa gushaka ubuvuzi hakiri kare niba ufite ibimenyetso.Ese OPMD ishobora gutera umunaniro?
Yego, OPMD ishobora gutera umunaniro. Umunaniro si cyo kimenyetso nyamukuru cya OPMD, ariko ukunze kugaragara ku bantu bafite iyo ndwara. Ubushakashatsi bumwe bwagaragaje ko hafi kimwe cya kabiri cy'abantu bafite OPMD bagira umunaniro ubangamira imirimo yabo ya buri munsi.Ni izihe ndwara zindi zifite ibimenyetso bisa na OPMD?
Hariho indwara zimwe na zimwe zishobora kugaragaza ibimenyetso byazo nk'ibya OPMD. Kubwibyo, ni ngombwa kubona isuzuma ryizewe. Ingero zimwe ni izi:- Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) : Iyi nayo ni indwara umuntu avukana. Ibimenyetso ni ukugabanuka no kunama kw'amaso y'ijisho.
- Indwara y'amaso idakira itera imbere (syndrome ya Kearns-Sayre) : Iyi ni indwara idakunze kugaragara mu mitsi y'ubwonko ifata amaso n'umutima.
- Myasthenia gravis : Iyi ni indwara iterwa n’ubwiyongere bw’umubiri itera intege nke z’imitsi n’umunaniro.
- Oculopharyngodistal myopathy : Iyi ndwara ishobora gutera ibimenyetso byinshi bya OPMD, hamwe n'ingorane zo guhumeka ndetse no kubura amatwi.
Icyo ugomba kwibuka mu byo twaganiriyeho (Ubutumwa bwo kujyana mu rugo)
Noneho rero, ubu uzi ko OPMD (Oculopharyngeal Muscular Dystrophy) ari indwara idakunze kugaragara mu buryo bw'uturemangingo igabanya intege z'imitsi y'amaso n'umuhogo. Ibimenyetso bikunze kugaragara nyuma y'imyaka 40. Rero, niba ubonye ibimenyetso, nko kunanuka kw'amaso cyangwa kugorwa no kumira, shaka inama kwa muganga vuba . Muganga wawe ashobora gukora ibizamini bikenewe kugira ngo amenye OPMD kandi aguhe imiti igufasha kugenzura ibimenyetso byawe.Wibuke ko ibimenyetso bya OPMD birushaho kwiyongera uko igihe kigenda gihita. Kandi ntibigira ingaruka ku buzima bwawe. Iyo uvuwe neza, ushobora gukomeza kugira ubuzima bwiza. Niyo mpamvu ari ngombwa gukomeza gukomera.indwara yo kubura imitsi yo mu maso, OPMD, ptosis, dysphagia, intege nke z'imitsi, indwara y'uturemangingo, gene ya PABPN1, kunanirwa kumira, amaso arembye
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