Ese umwana wawe afite intege nke z'imitsi yavukanye? Reka twige ku ndwara ya Congenital Myopathy.

Ese wigeze wumva umwana wawe arembye gato, nk'aho nta buzima afite? Cyangwa hari icyo abaganga bavuze ku mitsi ye akimara kuvuka? Ni ibisanzwe kumva ufite ubwoba gato iyo wumvise ibintu nk'ibi. Uyu munsi tugiye kuvuga ku ndwara y'uturemangingo ishobora gutera ibi bimenyetso, ariko ntabwo ikunze kugaragara cyane.

Myopathy yo mu gihe cyo kuvuka (Congenital Myopathy) ni iki?

Muri make, indwara ya Congenital Myopathy ni indwara idakunze kugaragara mu buryo bw'uturemangingo. Ibi bituma imitsi yacu icika intege. Ijambo 'Congenital' risobanura 'kuva bavutse'. 'Myopathy' risobanura 'indwara y'imitsi'. Rero, iyo abana bafite iyi ndwara bavutse, imitsi yabo iba ifite imitsi mike . Bumva umubiri wabo urembye. Ibi kandi tubyita 'Hypotonia' mu buryo bw'ubuvuzi.

Uretse ubu burwayi bw'imitsi, hari n'ibindi bimenyetso bishobora kugaragara. Urugero:

• Ibibazo by'amagufwa (ni ukuvuga amagufwa adakomeye cyangwa amagufwa adahagaze neza)
• Guhumeka bigoranye
• Kugorwa no konsa no kurya

Ibi bimenyetso rimwe na rimwe bishobora kugaragara mu gihe cyo kuvuka. Cyangwa, bishobora kugaragara mu bwana cyangwa mu bwana. Tekereza ukuntu umubyeyi cyangwa se yagira ubwoba aramutse abonye umwana uvutse aryamye nta kintu na kimwe kizima.

Ni ubuhe bwoko bw'ingenzi bwa myopathy yavutse?

Hari ubwoko butandatu bw'ingenzi bwa myopathy ivukanwa. Hariho n'ubundi bwoko budasanzwe bwagaragaye. Buri bwoko bushobora gutandukana bitewe n'ibimenyetso, uburemere bw'indwara, uburyo bwo kuyivura, ndetse n'uburyo umurwayi azarwara.

Noneho reka turebe ubwo bwoko butandatu bw'ingenzi mu buryo burambuye.

Indwara yo mu gice cyo hagati cy'umubiri

Ubu ni bwo bwoko bukunze kugaragara bwa myopathy ivukanwa. Indwara ya Central Core ni ubwoko bwa myopathy yitwa Core Myopathy. Ubusanzwe, abana bavukana gucumbagira, cyangwa hypotonia. Aba bana bashobora kugira gutinda mu gutera intambwe (nko kwicara no kuzunguruka). Bashobora kandi kugira intege nke mu maboko no ku maguru. Inkuru nziza ni uko ubwo ntege nke busa n'aho budakomeza kwiyongera uko igihe kigenda gihita. Indwara ya Central Core iterwa n'impinduka muri gene yitwa RYR1.

Indwara ntoya/indwara nyinshi

Ubu ni ubundi bwoko bwa myopathy buri mu cyiciro kimwe n'icyavuzwe haruguru cyitwa 'Core Myopathy'. Bufite kandi ubwoko butandukanye. Bunatwa ``Minicore Disease'' cyangwa ``Multicore Disease''. Muri ubwo bwoko bwinshi, intege nke zikomeye zigaragara mu maboko no ku maguru.Nanone, guhindagurika k'umugongo, ni ukuvuga `(Scoliosis)`, bikunze kugaragara. Guhumeka bigoranye nabyo ni ibisanzwe, kandi imyenge y'amaso ishobora kugabanuka. Ibi bishobora kandi guterwa n'impinduka mu ngirabuzimafatizo ya `(RYR1)` yavuzwe haruguru cyangwa indi ngirabuzimafatizo.

Nemaline Myopathy

Nemaline Myopathy ni indi myopathy isanzwe ikunze kugaragara mu bana bavukanye. Abana bafite iyi ndwara bakunze kugira ibibazo byo guhumeka no kugaburira. Bakunze kandi kugira intege nke mu maso, mu ijosi, mu maboko no mu maguru. Byongeye kandi, bashobora kugira ibibazo by'amagufwa nka scoliosis. Nemaline Myopathy iterwa n'impinduka muri imwe muri gene nyinshi, harimo NEM2, ACTA1, na TPM2.

Myopathy ya Centronuclear

Ubu ni ubwoko budasanzwe bwa myopathy ivukanwa. Ibimenyetso bya `(Centronuclear Myopathy)` birimo intege nke mu maboko y'umwana wawe, amaguru, no mu maso, amaso ye arembye, ndetse n'ibibazo byo kugenda kw'amaso. Ikibabaje ni uko ubu ntege nke bugenda burushaho kwiyongera uko igihe kigenda. Buterwa n'impinduka mu ngirabuzimafatizo `(DNM2)`, `(BIN1)`, cyangwa `(RYR1)`.

Myopathy ya Myotubular

Indwara ya Myotubular Myopathy ni indwara idakunze kugaragara ikunze kwibasira abana b'abahungu gusa. Muri iki gihe, umubiri uba unaniwe cyane kandi ugacika intege. Kugorwa no guhumeka no kumira nabyo birakunze kugaragara. Nanone, indwara yitwa osteopenia ikunze kugaragara. Ikibabaje ni uko abana benshi batabasha kubaho umwaka wa mbere w'ubuzima bwabo. Ibi biterwa n'impinduka mu ngirabuzimafatizo yitwa MTM1.

Myopathy yo mu bwoko bwa fibre ivukanwa

Iyi nayo ni indwara idakunze kugaragara. `(Congenital Fiber-Type Disproportion Myopathy)` nayo itangirana no gucumbagira. Ibimenyetso birimo intege nke mu maso, mu maboko no mu maguru, hamwe no kugorwa no guhumeka. Nubwo abana benshi bagerwaho n'ingaruka zikomeye, imikorere yabo yo guhumeka ishobora kumera neza uko imyaka igenda ikura. Impinduka mu miterere y'uturemangingo `(TPM3)`, `(ACTA1)`, `(TPM2)`, `(MYH7)`, na `(RYR1)` byagaragaye ku bana bafite iyi ndwara.

Ni ibihe bimenyetso bisanzwe bya myopathy yavutse?

Nkuko twabivuze mbere, ibimenyetso by'izi ndwara zishobora gutandukana bitewe n'ubwoko bwazo. Nanone, zishobora kugaragara igihe umuntu avuka cyangwa zikagaragara mu bwana cyangwa mu bwana. Ariko, hari ibimenyetso bimwe na bimwe bikunze kugaragara. Ni ibi bikurikira:

• Hypotonia: Imitsi y'umwana wawe yumva idafite imbaraga kandi nta buzima ifite. Ibi bishobora kwiyongera uko igihe kigenda gihita, kandi rimwe na rimwe, bishobora kugabanuka.
• Intege nke z'imitsi: cyane cyane ku banaImitsi yo mu ijosi, ku bitugu no mu kibuno (imitsi yo hafi) ni yo ikunze kunanirwa.
• Guhumeka bigoranye: Uko imitsi igufasha guhumeka igenda icika intege, ushobora kugira ikibazo cyo guhumeka no kumva ufunze mu gituza cyawe.
• Gutinda mu mikurire: Intambwe z'imikurire y'umwana, nko kwicara, kunyara, guhagarara no kugenda, ntizibaho mu gihe giteganijwe. Urugero, uyu mwana ashobora kugorwa no kuzamura umutwe mu gihe abandi bana bo mu kigero cye babikora.
• Ibibazo byo kugaburira: Kugorwa no konka mu icupa, kugorwa no kurya ukoresheje ikiyiko, guhekenya ibiryo, cyangwa kunywa amazi. Ibi bishobora no gutuma umuntu agabanya ibiro.
• Gucika intege/Gusitara: Uko ugenda ukura, ushobora kugwa no gusitara kenshi mu gihe ugenda bitewe n'intege nke z'imitsi.

Ni izihe mpamvu zitera indwara ya myopathy ivukanwa?

Mu by’ukuri, impamvu nyamukuru y’izi ndwara zo mu mubiri ni impinduka mu turemangingo twihariye, twitwa mutations. Izi gene ni nk'amabwiriza make agenzura buri kintu cyose mu mubiri wacu. Tekereza nk'uburyo bwo guteka. Iyo habayeho ikosa mu gice kimwe cy'iyo resept, isahani yose ishobora kwangirika, si byo se? Uko ni ko bigenda mu mpinduka mu turemangingo. Iyo izi gene zihindutse, bishobora kugira ingaruka ku mitsi y'umwana, ku mitsi itera imbaraga imitsi, ndetse rimwe na rimwe no ku bwonko bw'umwana. Niyo mpamvu ubwo burwayi bw'imitsi bubaho.

Ni gute indwara ya myopathy ivukanwa ipimwa?

Umwana wawe akivuka, ubusanzwe azasuzumwa na muganga w’inzobere mu cyumba cy’ivuriro cy’abana bato (`Neonatologist`) cyangwa umuganga w’abana (`Pediatrician`). Niba bakeka ko hari ikibazo runaka, bashobora gutegeka ko bapima kugira ngo bemeze ko bagirwaye. Bashobora kandi kohereza umwana wawe ku muganga w’inzobere mu by’imitsi (`Neurologist`) ndetse wenda n’inzobere mu by’imiterere y’uturemangingo (`Geneticist`).

Ibi bizamini bishobora kuba birimo:

• Gupima amaraso: Ibi bishobora gusuzuma ingano y’umusemburo witwa ``Creatine Kinase'' wiyongera, usohoka mu maraso iyo imitsi yangiritse.
• Ikizamini cya Electromyogram (EMG): EMG ishobora gupima imikorere y'amashanyarazi y'imitsi y'umwana wawe. Ibi bipima uburyo imitsi ikora neza.
• Gupima imitsi: Ibi bikubiyemo gufata agace gato cyane k'imitsi y'umwana wawe ukagasuzuma ukoresheje mikorosikopi. Ibi bishobora gufasha kureba impinduka ziri mu turemangingo tw'imitsi. Ibi ni nk'aho ari igikorwa gito, ariko nta mpungenge kirimo.
• Isuzuma ry'uturemangingo:Iki ni cyo kizamini gikunze gufasha mu gusuzuma indwara neza. Gishobora kumenya impinduka iyo ari yo yose, cyangwa impinduka, mu turemangingo dutera myopathy.

Ni ubuhe buryo bwo kuvura indwara ya myopathy ivukanwa?

Mu by'ukuri, nta muti uhari w'izi ndwara zavutse ziterwa na myopathy. Ibi bishobora kumvikana nk'ibibabaje, ariko ni ukuri. Ariko, hari uburyo bwo kuvura bushobora gufasha umwana wawe kugenzura ibimenyetso no kumufasha kubaho ubuzima bwiza uko bishoboka kose.

Ku bwoko bumwe na bumwe, nka "Indwara yo mu Mutwe" na "Indwara ntoya", hari aho umuti witwa "Albuterol" ukoreshwa. Nubwo ibi bikiri mu rwego rw'ubushakashatsi, byagaragaye ko bifasha kugabanya intege nke umwana agira ku rugero runaka. Ariko ibuka ko uyu atari umuti w'iyi ndwara.

Ubuvuzi bw'ubundi bwoko bwose muri rusange bugamije kuvura ibimenyetso by'umwana. Ubu buvuzi bugomba kuba bukubiyemo:

• Ubuvuzi bw'amagufwa: Iyo bibaye ngombwa, kuvura ibibazo by'amagufwa. Urugero, kubagwa cyangwa gukoresha ibikoresho bifasha bishobora kuba ngombwa ku bintu nka scoliosis.
• Ubuvuzi bw'umubiri: Ibi ni ingenzi cyane. Byigisha imyitozo ngororamubiri n'uburyo butandukanye bwo gukomeza imitsi, kunoza imigendere, no kunoza uburinganire bw'umwana.
• Ubuvuzi bw'akazi: Ibi bikubiyemo gufasha umwana gukora imirimo ya buri munsi ku giti cye. Urugero, gufasha mu bintu nko kwambara, kurya, gukina, gusoma no kwandika.
• Ubuvuzi bwo kuvuga: Kugira ngo bifashe mu bibazo byo kuvuga no mu ngorane zo kumira.

Igikuru ni uko ubu buryo bwose bwo kuvura bujyanye n'ibyo umwana akeneye, buyobowe n'abaganga b'inzobere n'abavuzi, kandi bugakorwa nk'ikipe.

Byongeye kandi, hari ubundi buryo bwo kuvura bwakoreweho ubushakashatsi, nk'uburyo bwo kuvura ingirabuzima fatizo, kandi twizeye ko buzagira umusaruro mwiza mu gihe kizaza.

Ese hari uburyo bwo kwirinda ko umwana wanjye yavukana indwara ya myopathy?

Iki ni ikibazo kigoye cyane. Kubera ko indwara ya myopathy iterwa n'impinduka mu ngirabuzimafatizo, nta buryo bwo gukumira iyi ndwara.

Ariko, niba ufite impungenge cyangwa ukeka ko ushobora kuba ufite umwana ufite ikibazo cy’uturemangingo, ikintu cyiza wakora ni ukuganira na muganga wawe ku birebana n’ubujyanama ku turemangingo, ndetse nibiba ngombwa, no gupima uturemangingo.Ni ngombwa cyane cyane kuganira kuri ibi mbere yo kubyara umwana, cyane cyane niba hari umuntu wo mu muryango wawe ufite indwara ya myopathy cyangwa indi ndwara ya genetiki. Umujyanama mu by’imiterere y’umubiri ashobora kukubwira byinshi kuri ibi no gusuzuma ibyago byawe.

Bizagenda bite umwana wanjye aramutse afite indwara ya Congenital Myopathy?

Biragoye gutanga igisubizo kimwe kuri iki kibazo, kuko imiterere y’indwara ishobora gutandukana cyane bitewe n’ubwoko bw’indwara ya myopathy umwana afite ndetse n’uburemere bw’indwara.

Mipathie y'impinja ivukana ishobora gutera ibibazo by'amagufwa by'igihe kirekire, nka:

• Kugabanuka kw'ingendo mu ngingo.
• Ibibazo by'ikibuno.

Nanone, igihe cyo kubaho kiratandukanye bitewe n'umuntu ku giti cye. Iyo umwana wawe afite ibibazo bikomeye byo guhumeka, ashobora kunanirwa guhumeka cyangwa akarwara indwara nk'umusonga. Mu bihe bikomeye, ibi bishobora gushyira ubuzima mu kaga.

Ariko, bamwe mu bana bafite indwara zoroheje bashobora gukura bameze nk'abantu basanzwe kandi bakabaho ubuzima bwuzuye. Bashobora kujya ku ishuri, gukina no gukora imirimo yabo bwite.

Kubwibyo, ni ngombwa kuganira na muganga w'umwana wawe ku buryo bweruye ku kibazo afite. Azashobora kuguha amakuru nyayo kandi agusubize ibibazo byose ushobora kuba ufite.

Ni irihe tandukaniro riri hagati ya Congenital Myopathy na Muscular Dystrophy?

Ushobora kuba warumvise indwara yitwa muscular dystrophy. Ni indwara iterwa n'uturemangingo igabanya intege z'imitsi. Ariko, hari itandukaniro rikomeye hagati y'ibyo byombi.

• Igihe ibimenyetso bitangira: Mu ndwara ya myopathy ivukanwa, ibimenyetso bigaragara igihe cyo kuvuka cyangwa mu bwana. Ariko, mu ndwara ya muscular dystrophy, bamwe bagira ibimenyetso igihe cyo kuvuka, abandi bashobora kugaragaza ibimenyetso mu bwana, mu gihe cy'ubugimbi cyangwa ubwangavu.
• Ibibera ku mitsi: Mu ndwara yo kubura imitsi, imitsi iragabanuka buhoro buhoro ikavugururwa. Nanone, indwara yo kubura imitsi ni indwara ikomeza kwiyongera, bivuze ko ibimenyetso birushaho kwiyongera uko igihe kigenda gihita. Mu ndwara zo mu nda zivukana, intege nke z'imitsi zihora zihamye cyangwa zigakura buhoro buhoro (harimo n'izindi).
• Ingaruka ku zindi ngingo: Kurwara imitsi bishobora no kugira ingaruka ku mutima no ku bihaha uko igihe kigenda gihita. Ibi ntibikunze kugaragara mu ndwara za myopathies zivukana (usibye ubwoko bumwe na bumwe).
• Isuzuma: Abaganga bashobora gutandukanya neza izi ndwara zombi binyuze mu bipimo bitandukanye byo muri laboratwari, cyane cyane isuzuma ry'imitsi.

Mu magambo make, mu ndwara zo mu mutwe zivukana, intege nke z'imitsi ziguma uko igihe kigenda gihita, cyangwa zishobora kwiyongera gato (usibye ubwoko bumwe na bumwe bukomeye). Ariko, "Muscular Dystrophy" ni indwara ikunze kwiyongera cyane.

Hanyuma, ibintu ugomba kwibuka (Ubutumwa bwo kujyana mu rugo)

Ndumva ko ari umutwaro ukomeye kandi biteye ubwoba kumva ko umwana wawe afite indwara idakunze kugaragara, kandi bigoye kuyisobanura. Biragoye cyane kubyemera.

Ariko ibuka ko utari wenyine. Hari itsinda rinini ry'inzobere, barimo abaganga, abaganga b'imitsi, abaganga b'imiti, n'abaganga b'imitsi, bari hano kugufasha wowe n'umwana wawe. Intego yabo ni ugufasha umwana wawe kubaho igihe kirekire gishoboka, no kumufasha kuguma amerewe neza kandi akora neza uko bishoboka kose.

Hari serivisi zo gufasha wowe n'umuryango wawe kugira ngo zibafashe guhangana n'ibibazo byo kubana n'indwara nk'iyi. Hari igihe izi serivisi ziboneka kugira ngo zibafashe guhangana n'ibura ry'umwana. Hashobora kuba hari imiryango muri Sri Lanka ifasha abana n'imiryango nk'iyi, bityo rero reba.

Birumvikana ko niba hari umuntu wo mu muryango wawe wagize ikibazo cya myopathy kandi ukaba utwite umwana, ganira na muganga wawe ku bijyanye no gupima imiterere y’umubiri mbere yo gutwita. Bashobora kugufasha kumenya ibyago byo kubyara umwana ufite ikibazo cya genetiki.

Nubwo uru rugendo rugoye, ufite amakuru akwiye, inama zikwiye z'abaganga, n'inkunga y'abakunzi, uzabona imbaraga zo guhangana narwo. Ntugacike intege. Uzabona imbaraga zo gukora ibishoboka byose ku bw'umwana wawe!

` Indwara zo mu nda zivukana, Intege nke z'imitsi, Indwara z'abana, Indwara z'uturemangingo, Hypotonia, Gupima imiterere y'uturemangingo, Ubuvuzi bw'umubiri