Ese umubiri wawe cyangwa uw'umwana wawe urimo gutinda? Ese byaba ari Nemaline Myopathy?

Ese hari igihe wumva umubiri wawe ufite intege nke cyane, cyangwa umwana wawe akora ibintu nyuma gato y'abandi bana, cyangwa asa n'aho afite imbaraga nke? Ibi bintu bishobora kubaho kubera impamvu zitandukanye. Ariko, uyu munsi tugiye kuvuga ku ndwara idasanzwe ariko y'ingenzi igomba kwitabwaho. Iyo ni indwara yitwa Nemaline Myopathy .

Nemaline Myopathy ni iki?

Mu magambo make, Nemaline Myopathy ni indwara igira ingaruka ku mitsi ifasha umubiri wacu kugenda (izwi kandi ku izina ry'imitsi y'amagufwa ). Ibi bitera intege nke z'imitsi (myopathy) mu bice bitandukanye by'umubiri. Ibi bimenyetso rimwe na rimwe bishobora kugaragara igihe umuntu avuka, cyangwa mu bwana, kandi gake cyane mu gihe umuntu akuze. Ubu burwayi bw'imitsi bukunze kugira ingaruka kuri ibi bikurikira:

• Ku isura yawe
• Kugeza mu ijosi
• Kugera mu gice cy'ikibuno
• Kugeza ku bitugu
• Ku maboko no ku maguru yo hejuru

Hari ikindi kintu kidasanzwe kuri iyi nemaline myopathy. Ni ukuvuga ko iyo dusuzumye imitsi (dukora biopsy ), tubona ibintu bisa n'uduti duto, bisa n'uduti imbere mu mitsi (ibi byitwa nemaline bodies) . Ijambo ry'Ikigiriki "nema" risobanura kandi "bisa n'uduti". Nguko uko iyi ndwara yamenyekanye. Yitwa kandi n'andi mazina, ushobora kuba warigeze kuyumva:

• Indwara y'inkoni ivukanwa
• Indwara y'umubiri ya Nemaline
• Myopathy y'inkoni

Abantu benshi barwaye nemaline myopathy bavukana ihinduka ry’uturemangingo twakomotse ku babyeyi babo . Ariko, ni gake cyane, iyi ndwara ishobora kubaho nta mateka y’umuryango, kandi ishobora guterwa n’ihinduka ry’uturemangingo ritunguranye.

Igikuru ni uko nta muti uhari wo kuvura indwara ya nemaline myopathy. Ariko, hari uburyo butandukanye bwo kuvura bushobora gufasha mu kugenzura ibimenyetso no koroshya ubuzima. Abantu bakunze kugira ubwoko bwa nemaline myopathy bashobora kubaho ubuzima busanzwe kandi bukora neza.

Ese hari ubwoko butandukanye bwa Nemaline Myopathy?

Yego, hari ubwoko butandatu bw'ingenzi bwa nemaline myopathy. Igihe ibimenyetso byatangiye n'uburemere bw'indwara biratandukanye bitewe n'ubwoko. 1. Nemaline myopathy isanzwe : Iyi ni yo ndwara ikunze kugaragara cyane . Kimwe cya kabiri cy'abarwayi bose ba nemaline myopathy bakomoka kuri ubu bwoko. Iyi ni indwara ibaho igihe cyo kuvuka. 2. Nemaline myopathy ivuka hagati :Muri ubu bwoko, ibimenyetso ntibikomeye cyane ugereranyije n’indwara ikomeye, ariko birakomeye cyane ugereranyije n’indwara isanzwe. Abarwayi bagera kuri 20% bafite ubwo bwoko. 3. Nemaline myopathy ikomeye ivukanwa (neonatal): Iyi ni indwara ikomeye ibaho igihe umuntu avuka . Abarwayi bagera kuri 16% bafite ubwo bwoko. 4. Nemaline myopathy itangira mu bwana : Ubu bwoko bugaragara hagati y’imyaka 10 na 20. Abarwayi barenga gato 10% bafite ubwo bwoko. 5. Nemaline myopathy itangira mu bantu bakuru: Iyi ndwara iba hagati y’imyaka 20 na 50. Abarwayi bagera kuri 4% bafite ubwo bwoko. 6. Nemaline myopathy ya Amish : Ubu ni ubwoko bwihariye bugaragara mu muryango w’Abaamish. Ni gake cyane kandi akenshi bushobora gutera urupfu mu bwana.

Ni nde ushobora kugira iyi ndwara?

Nemaline myopathy ishobora kugira ingaruka ku muntu uwo ari we wese, hatitawe ku gitsina, ubwoko, cyangwa idini. Ariko, niba umwe mu babyeyi bawe cyangwa bombi bafite imiterere y’uturemangingo tw’iyi ndwara, uba uri mu kaga gakomeye . Abantu bo mu muryango wa Amish nabo bari mu kaga gakomeye. Ni indwara idakunze kugaragara . Abashakashatsi bavuga ko iyi ndwara igaragara ku bana bavutse ari 50.000. Ariko, mu muryango wa Amish, bivugwa ko umuntu umwe muri 500 ashobora kwibasirwa n’iyi ndwara.

Ni izihe mpamvu zitera Nemaline Myopathy?

Nemaline myopathy ni indwara ifata uturemangingo tw’amagufwa n’imitsi . Akenshi iterwa n’impinduka mu turemangingo, byitwa gene mutations . Izi gene mutations zishobora kuragwa n’umubyeyi umwe cyangwa bombi.

• Hari igihe, iyi ndwara ishobora kubaho iyo ababyeyi bombi bafite gene idasanzwe (ni ukuvuga ko irazwe nk'ikimenyetso cyo mu bwoko bwa autosomal recessive) .
• Ni gake cyane, ishobora kubaho nubwo umubyeyi umwe gusa ari we uzungura gene idasanzwe (ni ukuvuga, nk'ikintu gikunze kwiganza mu buryo bw'umubiri ).
• Hari igihe, iyi ndwara ishobora no guterwa n'impinduka nshya mu ngirabuzimafatizo z'intanga cyangwa igi.

Ibi bikunze guterwa n'impinduka muri gene Nebulini (NEB) cyangwa gene Actin alpha-1 (ACTA1) . Nebulini na actin ni ubwoko bubiri bwa poroteyine zifasha imitsi yacu gufungana. Tekereza nk'ibice by'imashini. Iyo habayeho ikibazo kuri ibi bice, imitsi irahagarara gukora neza.

Ni ibihe bimenyetso by'iyi ndwara?

Ibimenyetso by'ingenzi bya nemaline myopathy ni ibi bikurikira:

• Kugabanuka k'imitsi (Hypotonia) : Kumva ufite intege nke mu mubiri, nk'umupira w'urubura.
• Kugabanuka cyangwa kubura ubushobozi bwo kwimura ukuguru: Kugabanuka k'ubushobozi bwo kwimura ukuguru iyo muganga akoze ku ivi akoresheje inyundo nto.
• Intege nke z'imitsi : Kumva ufite intege nke mu mubiri .

Niba umwana wawe uvutse agaragaje ibi bimenyetso, ushobora no kubona ibindi bintu nka:

• Indwara yo kugenda idasanzwe (indwara yo kugenda) .
• Ubuhanga bwo gutinda mu mikorere y'umubiri: Gutinda mu bintu nko kwicara, guhagarara no kugenzura umutwe.
• Kugorwa no kuvuga no kumira (dysarthria na dysphagia) .
• Agace k'umusaya gaherereye inyuma cyane kuruta uko bisanzwe (retrognathia) .
• Ifata ishusho y'isura ndende .
• Kugorama kudasanzwe k'akanwa ko hejuru .
• Ururimi rudasobanutse neza (imikorere mibi ya velopharyngeal) .
• Guhumeka nabi mu gihe usinziriye (guhumeka buhoro buhoro mu ijoro) , bishobora gutuma urugero rwa dioxyde de carbone mu maraso (hypercarbia) rwiyongera.
• Kugorwa no guhumeka (dyspnea) .

Abantu bafite iyi ndwara bashobora kugaragaza ibindi bimenyetso uko bagenda bakura :

• Gukomera kudasanzwe k'umugongo .
• Indwara ya Scoliose .
• Imibanire y'ingingo .
• Isanduku yarohamye (pectus excavatum) .

Iyi ndwara ipimwa ite?

Ubwa mbere, umuganga azabaza wowe cyangwa umwana wawe ibimenyetso byawe ndetse niba hari umuntu wo mu muryango wawe wigeze kugira ibibazo nk'ibyo. Hanyuma, azakora isuzuma ry'umubiri. Niba umuganga akeka ko afite indwara ya nemaline myopathy, azategeka ko habaho biopsy y'imitsi . Ibi bikubiyemo gukuraho agace gato k'imitsi mu gihe cyo kubaga no kuyisuzuma. Niba wowe cyangwa umwana wawe mufite iyi ndwara, muzabona imiterere isa n'imitsi (imibiri ya nemaline) muri iyo mitsi. Umuganga ashobora kandi gukora isuzuma ry'uturemangingo .Bishobora kandi gutangwa inama. Ibi bishobora kwemeza imiterere ya nemaline myopathy.

Ivurwa ite?

Nkuko byavuzwe mbere, nta muti wihariye uhari. Kubwibyo, ubuvuzi bugamije kugabanya ibimenyetso no gufasha koroshya ubuzima . Ubuvuzi bushobora kuba burimo:

• Ubufasha mu bibazo byo guhumeka: Ibi bishobora kuba birimo gushyira tracheostomy , guhuza n'imashini ikoresha ikoranabuhanga , cyangwa gukoresha imashini ya BiPAP .
• Imyitozo ngororamubiri idatera ingaruka mbi: Gukomeza imbaraga z'imitsi.
• Ubuvuzi bwa massage n'ubuvuzi bw'umubiri : Gukomeza imikorere y'imitsi.
• Ubuvuzi bwo kuvuga : Kugabanya ingorane zo kuvuga no kudahuzagurika.
• Uburyo bwo kunanura imitsi: Kongera imitsi.
• Ibikoresho byo kugenda: Ibintu nk'inkoni, inkoni zo gukubita, imishumi yo mu mavi, n'igare ry'abamugaye.

Niba ibimenyetso bikomeye, cyangwa niba hari izindi ngorane z'ubuzima, ushobora gukenera kujya mu bitaro . Kwitabira ibitaro bishobora gutanga uburyo bukurikira:

• Inkunga yo guhumeka: Urugero, guhumeka hakoreshejwe ikoranabuhanga kugira ngo bigufashe guhumeka mu gihe usinziriye.
• Kubagwa : Kuvura indwara yo gufunga ingingo cyangwa scoliosis .
• Indyo yo mu nda : Niba ufite ikibazo cyo kumira ibiryo.

Ese iyi ngaruka ishobora kugabanuka?

Mu by’ukuri, nta buryo bwo kwirinda wowe ubwawe cyangwa umwana wawe kugira indwara ya nemaline myopathy. Ariko, ni ngombwa cyane kumenya ibimenyetso, gushaka inama kwa muganga hakiri kare, no gutangira kuvurwa nibiba ngombwa .

Ni ubuhe buryo bw'ejo hazaza umuntu ufite iyi ndwara ashobora kwitega?

Ibi biratandukanye cyane bitewe n'ubwoko bw'indwara .

• Indwara isanzwe ya nemaline myopathy: Ubukene bw'imitsi bukunze kuguma ari bumwe uko igihe kigenda gihita. Ariko, uko ugenda ukura, intege nke zishobora kwiyongera gato uko ugenda ukura.
• Imikorobe ikomeye ya nemaline ivukana (ivuka ry’abana bato): Ibi bishobora gutera ingorane . Urugero:
• Ingingo nyinshi ziba zifashe mu mwanya wo kugorama cyangwa mu mwanya wagutse (Arthrogryposis multiplex congenita) .
• Guhumeka ibiryo cyangwa ibinyobwaUmusonga wo mu kirere .
• Kuvunika kw'imitsi.
• Indwara z'imitsi y'umutima (Cardiomyopathy) .
• Kunanirwa guhumeka .
• Myopathy yo mu gihe cy'ivuka rya nemaline: Abantu benshi bashobora gukenera ubufasha mu guhumeka no mu ntebe y'abamugaye.
• Indwara ya nemaline itangira mu bwana : Ibi bishobora gutera kugwa kw'ikirenge, ari byo kudashobora kunama ikirenge hejuru y'akaguru. Bishobora kandi gutuma imitsi yo mu kaguru itakaza ubukana n'imitsi yo hasi y'akaguru igenda.
• Imikorobe ya nemaline itangira mu bantu bakuru : Ibi bishobora no guteza ingorane :
• Kugorwa no guhumeka.
• Kugorwa no gufata umutwe uhagaze bitewe n'imitsi y'ijosi idakora neza.
• Ingorane z'indwara z'umutima.
• Intege nke z'imitsi zigenda ziyongera buhoro buhoro.
• Amish nemaline myopathy : Ingorane muri iyi ndwara zirimo intege nke z'imitsi, kunanirwa guhumeka, no kugabanuka kw'imitsi .

Rero, ku bijyanye n'ejo hazaza, biterwa n'ubwoko bw'indwara n'uburemere bw'ibimenyetso . Umuntu ufite ubwoko bworoheje bw'indwara (imiti isanzwe ya nemaline myopathy) ashobora kugenda nta gishyigikiro afite. Ariko, abantu bafite ubwoko bukomeye cyane (imiti ya Amish nemaline myopathy) bakunze kubaho imyaka ibiri.

Ariko ntugahangayike. Nubwo nta muti uhari, iyo ubuvuzi bukwiye, abantu benshi barwaye nemaline myopathy bashobora kubaho igihe kirekire . Bitewe n'ubwoko bw'indwara, igihe cyo kubaho gishobora kuva ku mezi make kugeza ku buzima bwose.

Wakwitaho ute wowe ubwawe cyangwa umwana wawe mu gihe arwaye iyi ndwara?

Ushobora kugabanya ingorane ziterwa n'iyi ndwara ukora ibi bikurikira:

• Suzuma imikorere y'umutima wawe buri gihe.
• Shaka inama n'ubuvuzi byihuse niba urwaye indwara yo mu myanya y'ubuhumekero yo hasi (urugero: bronchitis , kuziba mu gatuza, umusonga ).

Niba uri umuntu ufata iyi gene kandi ukaba wifuza kubyara umwana, ni byiza guhura n'umujyanama mu by'imiterere y'umubiri kugira ngo akugire inama .

Ibuka nk'incamake

Nemaline Myopathy (NM) ni indwara idakunze kugaragara ifata imitsi y'amagufwa. Ibimenyetso by'ingenzi ni ukugabanuka kw'imitsi n'intege nke z'imitsi. Hari ubwoko butandukanye bw'iyi ndwara, buri imwe ifite ibimenyetso bitandukanye n'ubukana bwayo. Nubwo nta muti wihariye uhari, hari uburyo bwo kugabanya ibimenyetso.Abantu benshi bafite ubwoko bukunze kugaragara cyane (imiti isanzwe ya nemaline myopathy) bashobora kubaho ubuzima bwabo bwite iyo bavuwe neza. Uko indwara y’ubundi bwoko ihinduka bitewe n’uburemere bw’ibimenyetso. Kubwibyo, ni ngombwa cyane gukurikiza inama za muganga no kwitabwaho neza . Imiti ya Nemaline myopathy, Intege nke z’imitsi, Indwara za Genetic, Indwara z’abana, Indwara z’imitsi, Ibibazo byo guhumeka, Biopsy y’imitsi