Indwara ya SMA ni iki? Nibihe bimenyetso nuburyo bwo kuvura indwara ya SMA?

SMA , izwi kandi ku izina rya Spinal Muscular Atrophy , ni indwara idasanzwe itera gutakaza imitsi nintege nke. Indwara yibasira umuvuduko wibasira imitsi myinshi mumubiri, igabanya cyane imibereho yabantu. SMA, ifatwa nkimpamvu zikunze guhitana abana bato, ikunze kugaragara mubihugu byiburengerazuba. Mu gihugu cyacu, ni indwara yarazwe na genetike igaragara ku mwana umwe mu bihumbi 6 kugeza ku bihumbi 10. SMA nindwara igenda itera kurangwa no gutakaza imitsi, ikomoka kuri neuron ya moteri yitwa selile selile.

Indwara ya SMA ni iki?

Nindwara yarazwe genetique itera gutakaza neurone ya moteri yumugongo, ni ukuvuga ingirabuzimafatizo ya moteri mumyanya yumugongo, itera intege nke mumubiri, hamwe nuruhare rwimitsi yegeranye, ni ukuvuga hafi yumubiri hagati, biganisha ku ntege nke zigenda zitera hamwe na atrophy mu mitsi, ni ukuvuga gutakaza imitsi. Intege nke zamaguru ziragaragara cyane kuruta amaboko. Kubera ko gene ya SMN mu barwayi ba SMA idashobora kubyara poroteyine iyo ari yo yose, ingirabuzimafatizo ya moteri mu mubiri ntishobora kugaburirwa kandi kubera iyo mpamvu, imitsi ku bushake ntishobora gukora. SMA, ifite ubwoko 4 butandukanye, izwi kandi nka "syndrome de baby syndrome" mubantu. Muri SMA, rimwe na rimwe bigatuma no kurya no guhumeka bidashoboka, iyerekwa no kumva ntabwo bigira ingaruka ku ndwara kandi nta gutakaza ibyiyumvo. Urwego rwubwenge bwumuntu ni ibisanzwe cyangwa birenze ibisanzwe. Iyi ndwara igaragara rimwe mu bana 6000 bavuka mu gihugu cyacu, igaragara mu bana bababyeyi bafite ubuzima bwiza ariko batwara. SMA irashobora kubaho mugihe ababyeyi bakomeje ubuzima bwabo bwiza batazi ko ari abatwara, kandi iyo mvururu muri genes zabo zandikiwe umwana. Indwara ya SMA mu bana bababyeyi batwara ni 25%.

Nibihe bimenyetso byindwara ya SMA?

Ibimenyetso bya Spinal Muscular Atrophy irashobora gutandukana kubantu. Ikimenyetso gikunze kugaragara ni intege nke zimitsi na atrophy. Hariho ubwoko bune butandukanye bwindwara, yashyizwe muburyo ukurikije imyaka yo gutangira ningendo ishobora gukora. Mu gihe intege nke zigaragara mu barwayi bo mu bwoko bwa 1 mu isuzuma ryimitsi ari rusange kandi zikwirakwira, mu barwayi bo mu bwoko bwa 2 na 3-SMA, intege nke zigaragara hafi, ni ukuvuga imitsi yegereye umutiba. Mubisanzwe, guhinda umushyitsi no gukurura ururimi bishobora kugaragara. Bitewe nintege nke, scoliose, nanone bita umugongo, irashobora kugaragara mubarwayi bamwe. Ibimenyetso bimwe birashobora kugaragara mu ndwara zitandukanye. Kubera iyo mpamvu, amateka yumurwayi yumvirizwa ku buryo burambuye ninzobere mu kuvura indwara zimitsi, ibibazo bye birasuzumwa, EMG ikorwa kandi ibizamini bya laboratoire hamwe namashusho ya radiologiya bikoreshwa ku murwayi igihe bibaye ngombwa na muganga. Hamwe na EMG, inzobere mu bumenyi bwimitsi zipima ingaruka zibikorwa byamashanyarazi mu bwonko no mu ruti rwumugongo ku mitsi iri mu maboko no ku maguru, mu gihe isuzuma ryamaraso ryerekana niba hari ihinduka ryimiterere. Nubwo ibimenyetso bitandukanye bitewe nubwoko bwindwara, muri rusange byashyizwe ku rutonde rukurikira:

• Intege nke nintege nke biganisha kubura iterambere rya moteri
• Kugabanuka kwa refleks
• Guhinda umushyitsi mu ntoki
• Kudashobora gukomeza kugenzura umutwe
• Kugaburira ingorane
• Ijwi rinini kandi inkorora idakomeye
• Kugabanuka no gutakaza ubushobozi bwo kugenda
• Gusubira inyuma yurungano
• Kugwa kenshi
• Biragoye kwicara, guhagarara no kugenda
• Ururimi

Ni ubuhe bwoko bwindwara ya SMA?

Hariho ubwoko bune butandukanye bwindwara ya SMA. Iri tondekanya ryerekana imyaka indwara itangiriraho ningendo ishobora gukora. Imyaka ikuze SMA yerekana ibimenyetso byayo, niko indwara yoroshye. Ubwoko-1 SMA, ibimenyetso byayo bigaragara kubana bafite amezi 6 nayirenga, niyo akomeye cyane. Ubwoko-1, gutinda kwimigendere yumwana birashobora kugaragara mugihe cyanyuma cyo gutwita. Ibimenyetso bikomeye byabarwayi bo mu bwoko bwa 1 SMA, nanone bita impinja za hypotonique, ni ukutagenda, kutagenzura umutwe hamwe nindwara zandurira mu myanya yubuhumekero. Kubera izo ndwara, ubushobozi bwibihaha bwabana buragabanuka kandi nyuma yigihe gito bagomba kubona infashanyo zubuhumekero. Muri icyo gihe, ukuboko namaguru ntibigaragara ku bana badafite ubumenyi bwibanze nko kumira no konsa. Ariko, barashobora guhuza amaso nibitekerezo byabo bishimishije. Ubwoko-1 SMA niyo mpamvu itera impfu zabana bato kwisi.

Ubwoko-2 SMA igaragara kubana bafite amezi 6-18. Mugihe imikurire yumwana yari isanzwe mbere yiki gihe, ibimenyetso bitangira muriki gihe. Nubwo abarwayi bo mu bwoko bwa 2 bashobora kugenzura imitwe yabo barashobora kwicara bonyine, ntibashobora kwihagararaho cyangwa kugenda nta nkunga. Ntabwo bagenzura bonyine. Guhinda umushyitsi mu ntoki, kudashobora kongera ibiro, intege nke no gukorora birashobora kugaragara. Ubwoko bwa-2 abarwayi ba SMA, aho umugongo uhetamye witwa scoliose ushobora no kugaragara, bakunze kwandura indwara zubuhumekero.

Ibimenyetso byubwoko-3 abarwayi ba SMA bitangira nyuma yukwezi kwa 18. Ku bana bafite imikurire yari isanzwe kugeza iki gihe, birashobora gufata igihe cyubwangavu kugirango ibimenyetso bya SMA biboneke. Ariko, iterambere rye riratinda kurusha bagenzi be. Iyo indwara igenda itera imbere kandi intege nke zimitsi zikura, ingorane nkikibazo cyo guhaguruka, kudashobora kuzamuka ingazi, kugwa kenshi, gutungurana gutunguranye, no kudashobora kwiruka. Ubwoko-3 abarwayi ba SMA barashobora gutakaza ubushobozi bwabo bwo kugenda mumyaka yashize kandi barashobora gukenera igare ryibimuga, kandi scoliose, ni ukuvuga kugabanuka kwumugongo. Nubwo guhumeka kubwoko bwabarwayi bigira ingaruka, ntabwo bikomeye cyane nko mu bwoko bwa 1 nubwoko-2.

Ubwoko-4 SMA, buzwiho kwerekana ibimenyetso mubukure, ntibusanzwe kurenza ubundi bwoko kandi iterambere ryindwara riratinda. Abarwayi bo mu bwoko bwa 4 ntibakunze gutakaza ubushobozi bwo kugenda, kumira no guhumeka. Uruti rwumugongo rushobora kugaragara muburyo bwindwara aho intege nke zishobora kugaragara mumaboko namaguru. Ku barwayi bashobora guherekezwa no guhinda umushyitsi no kunyeganyega, imitsi yegereye umutiba ikunze kwibasirwa. Nyamara, iyi miterere ikwirakwira buhoro buhoro umubiri wose.

Indwara ya SMA isuzumwa ite?

Kubera ko indwara yimitsi yumugongo ifata urujya nuruza rwimitsi, bikunze kugaragara iyo intege nke zombi no kugabanuka kwimikorere bibaye. SMA ibaho mugihe ababyeyi bahisemo kubyara batazi ko ari abatwara, kandi gene ihindagurika iva mubabyeyi bombi ikajya kumwana. Niba hari umurage ukomoka kuri umwe mubabyeyi, imiterere yabatwara irashobora kubaho nubwo indwara itabaho. Ababyeyi bamaze kubona ibintu bidasanzwe mumyitwarire yabana babo hanyuma bakabaza muganga, gupima imitsi nimitsi bikorwa hakoreshejwe EMG. Iyo hagaragaye ubushakashatsi budasanzwe, gen ziteye inkeke zisuzumwa hifashishijwe amaraso hanyuma SMA irasuzumwa.

Indwara ya SMA ivurwa ite?

Nta buryo bunoze bwo kuvura indwara ya SMA, ariko ubushakashatsi burakomeza ku muvuduko wuzuye. Nyamara, ubuzima bwumurwayi burashobora kwiyongera hakoreshejwe uburyo butandukanye bwo kugabanya ibimenyetso byindwara na muganga winzobere. Gukangurira abavandimwe bumurwayi wasuzumwe na SMA ibijyanye no kwita ku ruhare bigira uruhare runini mu koroshya urugo no kuzamura imibereho yumurwayi. Kubera ko abarwayi bo mu bwoko bwa 1 na Type-2 SMA bakunze gupfa bazize indwara zifata ibihaha, ni ngombwa cyane koza umwuka wumurwayi mugihe habaye guhumeka bidasanzwe kandi bidahagije.

Ubuvuzi bwindwara ya SMA

Nusinersen, yemerewe na FDA mu Kuboza 2016, akoreshwa mu kuvura impinja nabana. Uyu muti ugamije kongera umusaruro wa poroteyine yitwa SMN ikomoka kuri gene ya SMN2 no gutanga imirire ya selile, bityo bikadindiza impfu za neuron moteri bityo bikagabanya ibimenyetso. Nusinersen, yemejwe na Minisiteri yubuzima mu gihugu cyacu muri Nyakanga 2017, yakoreshejwe mu barwayi batageze kuri 200 ku isi mu myaka mike. Nubwo imiti yakiriwe na FDA itatandukanije ubwoko bwa SMA, nta bushakashatsi bwakozwe ku barwayi bakuze. Kubera ko ingaruka ningaruka zibiyobyabwenge bifite igiciro kinini cyane, bitazwi neza, bifatwa ko bikwiye kubikoresha gusa ku barwayi bo mu bwoko bwa 1 SMA kugeza igihe ingaruka zabyo ku barwayi ba SMA zikuze zisobanutse. Kubuzima buzira umuze kandi burebure, ntukibagirwe kwisuzumisha bisanzwe na muganga wawe winzobere.