Reka twige ku ntege nke z'imitsi zivukana (Congenital Myasthenic Syndrome - CMS)

Ese wigeze ubona ko umwana muto ananirwa vuba, ndetse no mu gihe akina cyangwa akora uturimo duto, akumva nk'aho nta mbaraga afite? Hari igihe wumva bigoye kurya, kuvuga, cyangwa no guhumbya amaso? Niba ufite ibimenyetso nk'ibi, bishobora guterwa n'intege nke z'imitsi tugiye kuvugaho uyu munsi, ari byo byitwa `(Congenital Myasthenic Syndrome)` cyangwa `(CMS)` mu magambo ahinnye. Ntugahangayike, reka tubiganireho birambuye, mu buryo bworoshye.

`(Congenital Myasthenic Syndrome - CMS)` ni iki?

Mu magambo make, `(CMS)` ni itsinda ry'indwara zibaho mu gihe cyo kuvuka. Ikintu cy'ingenzi kibaho muri ibi ni uko imitsi icika intege mu gihe cyo gukora imyitozo ngororamubiri, ni ukuvuga iyo ukora ikintu runaka. Ijambo ``congenital`` risobanura ``kuvuka kuva mu ivuka.''

Tekereza nawe, iyo dusanzwe dukora imyitozo nk'iyo, ni ibisanzwe kumva unaniwe gato. Ariko ku muntu ufite `(CMS)`, ndetse no gukora ikintu gito, nko kugenda cyangwa gukina, imitsi iracika intege kandi bikagorana gukomeza iyo mirimo. Ariko, iyo uhagaritse iyo mirimo ukaruhuka gato, yongera koroherwa gato.

Iyi ndwara ikunze kugira ingaruka ku mitsi yo mu maso . Ni ukuvuga imitsi dukoresha mu guhekenya, kumira no guhumbya. Ishobora no kugira ingaruka ku yindi mitsi (twita "imitsi y'amagufwa") idufasha kugenda no kugenda.

Ibimenyetso bishobora kuba byoroshye cyane kuri bamwe, ndetse bikaba bikomeye cyane ku bandi. Mu bihe bikomeye, bishobora gushyira ubuzima mu kaga, cyane cyane iyo bigira ingaruka ku mitsi igufasha guhumeka.

Aho ubutumwa buri hagati y'imitsi n'imitsi buhurira bugatera urujijo!

Imitsi yacu ikora ishingiye ku butumwa buturuka mu mitsi. Nk'uko umugozi ukenera gufunguza urumuri, imitsi ikenera ubutumwa bw'imitsi kugira ngo ikore. Hari ahantu hihariye aho utwo turemangingo tw'imitsi n'uturemangingo tw'imitsi bihurira kandi bigahuzwa. Abaganga babyita "ihuriro ry'imitsi y'ubwonko". Tekereza nk'ikiraro gito cyohereza ubutumwa.

Igikunze kubaho ku muntu ufite `(CMS)` ni uko hari ikibazo kuri icyo kiraro, bityo ubutumwa buva mu turemangingo tw'imitsi bujya mu turemangingo tw'imitsi ntibunyuremo neza. Niyo mpamvu imitsi idakora neza igacika intege.

Ese hari ubwoko bwa `(CMS)`?

Yego, hari ubwoko bwinshi bw'ingenzi bw'iyi ndwara ya "(CMS). Abaganga bayishyira mu byiciro bakurikije aho ikibazo kiri ku "ihuriro ry'imitsi" navuze mbere, ni ukuvuga aho imitsi n'imitsi bihurira.

Hari ubwoko butatu ahanini:

1. Presynaptic congenital myasthenic syndrome: Muri iki gihe, ikibazo kiba mu ngirabuzimafatizo y'imitsi itanga ubutumwa.

2. Synaptic congenital myasthenic syndrome ibaho mu mwanya uri hagati y'uturemangingo tw'imitsi n'uturemangingo tw'imitsi:Ikibazo hano ni icyuho kimeze nk'ikiraro.

3. Indwara ya myasthenic yo mu gihe cy'imibonano mpuzabitsina nyuma ya synapse: Ikibazo kiri muri ibi kiri mu turemangingo tw'imitsi twakira ubutumwa.

Byongeye kandi, muri buri bwoko muri ubu, hari ubundi bwoko buto bushingiye ku nenge ziri mu bice runaka by'ingingo, nka "basal lamina" cyangwa "acetylcholine receptor". Aya ni amagambo agoye cyane mu buvuzi, ariko dore igitekerezo kidasobanutse neza.

Ni gute iki kibazo cya `(CMS)` gikunze kugaragara?

Mu by’ukuri indwara ya CMS ni indwara idakunze kugaragara. Nta makuru menshi agaragaza uburyo ikunze kugaragara. Ubushakashatsi bwakozwe mu Bwongereza bwagaragaje ko yibasira abana bagera kuri 9 kuri buri miliyoni bari munsi y’imyaka 18. Uwo ni umubare muto cyane.

Ni irihe tandukaniro riri hagati ya `(CMS)` na `(Myasthenia Gravis)`?

Ushobora kuba warumvise indwara ya ``Myasthenia Gravis``. Izi ndwara zombi zitera intege nke z'imitsi bitewe n'ikibazo cy'uburyo imitsi yohereza ubutumwa ku mitsi. Ariko hari itandukaniro rinini hagati y'izo ndwara zombi.

• (Congenital Myasthenic Syndrome - CMS): Iyi ni indwara iterwa n'imiterere y'uturemangingo. Ni ukuvuga ko iterwa n'impinduka mu miterere y'uturemangingo (`mutation`) ibaho igihe umuntu avuka.
• Myasthenia Gravis: Iyi ni indwara iterwa n’ubwiyongere bw’umubiri . Ibi bivuze ko ubudahangarwa bw’umubiri wacu bwibasira ihuriro ry’imitsi mu buryo butari bwo.

Mu magambo make, `(CMS)` ni ikibazo kiri mu "gishushanyo" (uturemangingo). `(Myasthenia Gravis)` ni "kutamenya neza" ubwirinzi bw'umubiri.

Ni ibihe bimenyetso by'umuntu ufite `(CMS)`?

Ibimenyetso bishobora gutandukana gato bitewe n'ubwoko bwa CMS, ariko ibimenyetso bikunze kugaragara ni ibi bikurikira:

• Iyo unaniwe umubiri, imitsi irananirwa cyane kandi igacika intege. Unanirwa nubwo wamaze gukora akazi gato.
• Kugorwa no kugenzura cyangwa gutakaza kugenzura imitsi .
• Amaso y'ijisho arekuye (yitwa kandi ptosis).
• Kureba kabiri .
• Ijisho risa n'aho rikuruwe ku ruhande rumwe (ijisho ry'ubunebwe).
• Kugorwa no kuvuga (ijwi rishobora guhinduka, rishobora gushoka).
• Kugorwa no kumira ibiryo.

Niba umwana afite kimwe cyangwa byinshi muri ibi bimenyetso, ni ngombwa cyane gushaka inama kwa muganga.

Ibimenyetso bya `(CMS)` bikunze gutangira ku kigero kingana iki?

Ibimenyetso bya CMS bikunze gutangirira mu bwana, mu bwana cyangwa mu bwana . Niba umwana wawe atinda kugira ubushobozi bwo gukora imitsi (urugero, atinda gukanguka, guhagarara, cyangwa kugenda), ibi bishobora kuba ikimenyetso cy'iyo ndwara.

Ariko, ibimenyetso by'ubwoko bumwe na bumwe bwa `(CMS)`Bishobora kandi kugaragara nyuma gato, urugero, mu bwana cyangwa ndetse no mu myaka y'ubukure.

Ni izihe mpamvu za `(CMS)`?

Nkuko nabivuze mbere, impamvu nyamukuru ya `(CMS)` ni impinduka mu miterere y'uturemangingo, ni ukuvuga `(mutation).` Ibintu byose biri mu mubiri wacu bigenzurwa na gene. Rero, iyo habayeho inenge mu gene zigisha ikorwa rya poroteyine zifasha mu gutwara ubutumwa buva mu mitsi bujya mu mitsi, iyi ndwara ya `(CMS)` ibaho.

Hari imiterere myinshi y’uturemangingo igize uruhare muri ibi. Dore ingero nke:

• `(CHRNE)`
• `(RAPSN)`
• `(IKIGANIRO)`
• `(COLQ)`
• `(DOK7)`

Izi gene ni zo zigisha uturemangingo gukora poroteyine zikenewe mu guhanahana ubutumwa ku ihuriro ry’imitsi. Iyo habayeho `(mutation)` muri izi gene, ni ukuvuga impinduka, uturemangingo ntitwakira amabwiriza neza. Hanyuma ubutumwa bwo muri icyo kiraro burahungabana. Ibyo nibyo bitera ibimenyetso bya `(CMS)`.

Ese ni ikintu gikomoka mu gisekuru cya `(CMS)`?

Yego, `(CMS)` ni indwara ishobora kuragwa kuva ku gisekuru kugeza ku kindi.

Akenshi iragwa mu buryo bwa "autosomal recessive". Ibi bivuze ko kugira ngo umwana agire iyi ndwara, ababyeyi bombi bagomba kuragwa iyo gene ifite inenge. Ababyeyi bashobora kutagira ibimenyetso, ariko bashobora kuba ari bo bayitera.

Hari ubwoko bumwe na bumwe bwa CMS bushobora kuragwa mu buryo busanzwe . Muri icyo gihe, umwana ashobora kugira iyi ndwara nubwo yaba yarazwe gene ifite inenge n'umubyeyi umwe gusa .

Nanone, hari igihe umuntu ashobora kurwara CMS bitewe n’impinduka mu buryo butunguranye , nubwo nta muntu n’umwe mu bagize umuryango wigeze agira iyo ndwara mbere.

Ni nde uri mu kaga gakomeye ko kurwara `(CMS)`?

Umuntu wese ashobora kugira CMS. Ariko, niba hari umuntu wo mu muryango wawe ufite iyi ndwara (amateka y’umuryango w’umuntu), nawe uri mu kaga ko kuyirwara.

Ni izihe ngorane ziterwa na `(CMS)`?

Iyo ndwara `(CMS)` ishobora gutera ingorane zitandukanye. Zimwe muri zo ni:

• Kugorwa no konka cyangwa kurya (cyane cyane ku bana bato).
• Imitsi ikomeye .
• Gutinda gutsinda intambwe z'ingenzi mu iterambere (cyane cyane mu bumenyi bw'imitsi).
• Kunanirwa kugenda.
• Guhagarara buhoro buhoro mu guhumeka (apnea).
• Indwara zo mu mutwe ( zimeze nk'izirwaye )
• Ubumuga bwo mu mutwe - Ibi ntibibaho kuri buri wese, bibaho ku bwoko bumwe na bumwe gusa.
• Indwara z'imitsi (neuropathie).
• Ibitagenda neza mu mikorere y'umubiri .

Izi ngorane zose ntiziba kuri buri wese. Biterwa n'ubwoko bwa CMS, ubukana bwayo, n'uburyo ubuvuzi bugenda neza.

Ni gute wamenya `(CMS)` uko ibintu bimeze?

Umuganga azagusuzuma neza akoresheje uburyo bwo kugupima no kugukorera ibizamini ku mitsi yawe. Azakubaza ibimenyetso byawe kandi afate amateka yuzuye y'ubuzima bwawe (urugero niba hari umuntu wo mu muryango wawe wigeze kugira iyi ndwara).

Niba ukeka ko ufite CMS, muganga wawe ashobora kugusaba gukora imyitozo ngororamubiri yoroheje imbere ye (urugero, kuzamuka ingazi) kugira ngo arebe uko umubiri wawe witwara.

Byongeye kandi, hari ibizamini bimwe na bimwe bishobora gukorwa kugira ngo hamenyekane izindi ndwara zishobora gutera ibimenyetso bisa:

• Gupima amaraso .
• Inyigo yo kuyobora imitsi - Ikizamini gipima umuvuduko ubutumwa bunyuramo mu mitsi.
• Electromyography (EMG) - Ikizamini gipima imikorere y'amashanyarazi y'imitsi.

Gupima `(CMS)` mu buryo bw'uturemangingo

Gupima imiterere y'uturemangingo ni ikizamini cy'ingenzi cyane cyo gusuzuma CMS. Bifasha kumenya impinduka runaka z'uturemangingo zitera ibimenyetso byawe. Muganga wawe azafata icyitegererezo gito cy'amaraso yawe maze apime ADN iri muri yo. Kumenya ubwoko bwa CMS ufite n'aho ikibazo kiri mu miyoboro y'imitsi bishobora gufasha muganga wawe gutegura uburyo bwo kuvura.

`(CMS)` ivurwa ite?

Kugeza ubu nta muti uhari wa CMS. Ariko hari uburyo bwo kuvura bushobora gufasha mu kugenzura ibimenyetso no koroshya ubuzima.

Imiti ikunze gukoreshwa mu kubungabunga cyangwa kunoza imikorere y'imitsi. Muganga wawe ashobora kukwandikira imiti nka:

• Agonists zo mu bwoko bwa kolineriji (urugero: pyridostigmine, amifampridine cyangwa 3,4-diaminopyridine).
• Imiti ifunguye ibuza imiyoboro y'amaraso (urugero: fluoxetine cyangwa quinidine).
• Agonists ya Adrenergic (urugero: salbutamol cyangwa ephedrine).

Icy'ingenzi: Ntukigere ukoresha iyi miti utabanje kugisha inama muganga. Nanone, si imiti yose ikora ku bwoko bwose bwa '(CMS)'. Kubwibyo, gusuzuma neza no kugisha inama muganga ni ngombwa.

Nubwo gukora imyitozo ngororamubiri bishobora gutuma ibimenyetso birushaho kwiyongera, muganga wawe ashobora kukwohereza kwa muganga w’imiti ivura indwara z’umubiri.Menya imyitozo ngororamubiri n'ibikorwa bikubereye, byoroshye kandi bikubereye. Ibi bizagufasha kwirinda kugorana kw'imitsi no kugumana ubuzima bwiza.

Hari abantu bashobora kandi gukenera gukoresha ibikoresho bibafasha mu mirimo ya buri munsi. Urugero, gukoresha intebe y'abamugaye bishobora gufasha mu kwirinda impanuka no koroshya ingendo.

Ese hari ingaruka mbi z'umuti?

Kimwe n'indi miti iyo ari yo yose, imiti ya `(CMS)` ishobora gutera ingaruka zimwe na zimwe. Izi ngaruka ziratandukanye bitewe n'ubwoko bw'umuti. Zimwe mu ngaruka zisanzwe zirimo:

• Kubabara mu nda.
• Uburyo bwo kugira ubwivumbure.
• Ibibazo byo guhumeka.
• Impiswi.
• Umunaniro ukabije.
• Ubwiyongere bw'amacandwe cyangwa ibyuya.
• Impinduka mu miterere y'icyerekezo.

Mbere yo gutangira umuti uwo ari wo wose, ganira na muganga wawe ku ngaruka zishobora kubaho kandi umenye neza. Hanyuma ushobora gufata ibyemezo bisobanutse ku buzima bwawe.

Ni iki icyerekezo cy'umuntu ufite `(CMS)`? (Ibisobanuro)

Ibimenyetso bya CMS biratandukanye cyane bitewe n'umuntu ku giti cye. Hari abantu bashobora kugira ibimenyetso byoroheje cyane bitagize ingaruka ku buzima bwabo. Abandi bashobora kugira ibimenyetso bikomeye bishobora gushyira ubuzima mu kaga, nko kugorwa no guhumeka . Muganga wawe ashobora kuguha uburyo bwiza bwo kubona uburwayi bwawe.

Ese `(CMS)` igira ingaruka ku buzima?

CMS ishobora kugira ingaruka ku mibereho yawe y’igihe kirekire cyangwa idashobora kugira ingaruka ku mibereho yawe. Niba ufite ibimenyetso byoroheje, CMS ishobora kutagira ingaruka zikomeye ku buzima bwawe muri rusange. Ariko, niba ibimenyetso bigira ingaruka ku mitsi igenga uburyo uhumeka, bishobora kugira ingaruka ku mibereho yawe y’igihe kirekire. Itsinda ry’abaganga rizagufasha gucunga ibimenyetso byawe kugira ngo wirinde ingorane zishobora kuguhitana.

Ese `(CMS)` ishobora kwirindwa?

Kugeza ubu, nta buryo bwabonetse bwo gukumira ikibazo cya ``(CMS)```.

Niba uteganya gushinga umuryango, ushobora kubonana na muganga kugira ngo akugire inama ku bijyanye n'imiterere y'umubiri kugira ngo umenye byinshi ku bijyanye n'ingaruka zo kubyara umwana ufite indwara y'umubiri.

Nanone, niba ufite CMS, buri gihe banza ubwire muganga wawe mbere yo gutangira imiti mishya. Imiti imwe (urugero, imiti imwe n'imwe igabanya ubukana bw'indwara ya CMS, imiti y'umutima, n'imiti yo mu mutwe) ishobora gutuma ibimenyetso bya CMS birushaho kwiyongera. Ibi nibibaho, muganga wawe ashobora kukugira inama yo gukoresha indi miti.

Ni ryari ngomba kujya kwa muganga?

Niba wowe cyangwa umwana wawe mufite ibimenyetso by'intege nke z'imitsi (CMS) mu gihe cy'imyitozo ngororamubiri, hita ubonana na muganga.

Ku mwana waweNiba umwana wawe adashobora kurya cyangwa atinze kugera ku ntambwe z'iterambere ry'imikurire ye, bwira muganga w'umwana wawe.

Ibyihutirwa! Niba umwana afite ikibazo cyo guhumeka, cyangwa uruhu, iminwa, cyangwa inzara bihinduka ibara ry'umukara n'ubururu-imvi (`cyanosis`), hamagara 911 ako kanya, cyangwa umujyane mu biro byita ku buzima bw'ibanze by'ibitaro biri hafi.

Ni ibihe bibazo ngomba kubaza muganga wanjye?

Nyuma yuko wowe cyangwa umwana wawe basanze ufite CMS, mushobora kugira ibibazo byinshi. Ntutinye kubaza muganga wawe ibibareba. Dore ingero zimwe na zimwe:

• Ni ubuhe bwoko bwa `(CMS)` umwana wanjye/wanjye afite?
• Ni ubuhe bwoko bw'ubuvuzi usaba?
• Ingaruka mbi z'ubu buryo bwo kuvura ni izihe?
• Niba umwana wanjye afite `(CMS)`, ashobora kwitabira siporo cyangwa ibindi bikorwa?

Ibimenyetso bya CMS si bimwe kuri buri wese. Hari igihe ibintu nko kuzamuka ingazi no gukora imyitozo ngororamubiri bishobora kugorana. Muganga wawe ashobora kandi kukugira inama yo gukoresha ibikoresho bigufasha, nk'intebe y'abamugaye, kugira ngo wirinde kugwa cyangwa gukomereka.

Abana basanzwe bafite iyi ndwara bashobora gufata igihe kirekire kugira ngo bamenye intambwe z'ingenzi mu mikurire yabo, cyane cyane ubuhanga bwo kugenda n'amaguru, ugereranije n'abandi bana bo mu kigero cyabo. Niba ubonye ibi biba ku mwana wawe, vugana na muganga wawe.

Amaherezo, ibintu byo kwibuka (Ubutumwa bwo kujyana mu rugo)

Nubwo indwara ya Congenital Myasthenic Syndrome (CMS) ari indwara idakunze kugaragara itera intege nke z'imitsi zigaragara mu gihe cyo kuvuka, iyo umuntu asuzumwe neza kandi agafatwa neza, abantu benshi bashobora kubaho ubuzima busanzwe.

• Menya ibimenyetso: Menya cyane cyane ibintu nk'ubutinda bw'imikurire y'abana n'umunaniro ukabije mu gihe cy'imyitozo ngororamubiri.
• Shaka inama kwa muganga: Niba ushidikanya, ni ngombwa kujya kwa muganga kugira ngo umenye neza indwara.
• Kurikiza uburyo wavuwe neza: Kurikiza amabwiriza ya muganga wawe n'imiti ye neza. Niba bagusaba ibintu nk'ubuvuzi bw'umubiri, ntukabireke.
• Komeza ugire icyizere: Kubana n'iki kibazo bishobora kugorana, ariko nturi wenyine. Hari abaganga, abavuzi, n'abakunzi bashobora kugufasha.

Itsinda ry'abaganga niho hantu heza ho kugufasha gusobanukirwa uburwayi bwawe n'uburyo bwo kuvura bukubereye. Rero, ntutinye kubaza ibibazo byawe no gusangira impungenge zawe.

` Congenital Myasthenic Syndrome, CMS, intege nke z'imitsi, indwara z'uturemangingo, imitsi yo mu bwonko, indwara z'abana, ubumuga bwo kuvukana