Ese amaso y'umwana wawe ahora ahinda cyangwa asa n'aho azunguruka? Reka twige ku ndwara ya Jeavons Syndrome na Epilepsy hamwe na Eyelid Myoclonia!

Ese umwana wawe yatangiye guhumeka vuba vuba? Cyangwa amaso ye yatangiye guhumeka umutwe we ukumva asa n'usubira inyuma? Hari igihe ibi bishobora guherekezwa n'igicuri gito. Nk'umubyeyi, ni ibisanzwe kumva ufite ubwoba bwinshi kandi uhangayitse iyo ubonye ikintu nk'iki. Uyu munsi tugiye kuvuga ku bwoko budasanzwe bw'igicuri kigaragaza ibi bimenyetso, ariko ntitubyumva kenshi. Ibi byitwa Jeavons Syndrome, cyangwa Epilepsy With Eyelid Myoclonia.

Syndrome ya Jeanons ni iki?

Muri make, Jevons syndrome ni ubwoko budasanzwe bw'igicuri . Irangwa no guhumeka mu buryo butunguranye, cyangwa guhumeka amaso. Iyi ndwara ikunze guterwa no guhindura imiterere y'urumuri no kumva urumuri . Iyi ndwara ikunze gutangirira mu bwana .

Ugomba kuba warumvise ufite ubwoba bwinshi ubwo umwana wawe yagiraga isereri bwa mbere, kandi igihe cyose yagiraga isereri, si byo se? Buri gihe haba hari impungenge ku mutekano we. Nubwo umwana wawe ashaka gukina, kwiga no kwishima nk'abandi bana, ni ibisanzwe ko mwembi mugira ubwoba gato ku bijyanye n'icyo kibazo.

Ariko inkuru nziza ni uko hari uburyo bwo kuvura bushobora kugabanya izi ndwara zo mu mutwe no gucunga ingaruka zishobora kugira ku buzima bwawe n'ubw'umwana wawe . Indwara ya Jevons si indwara igenda ishira uko umwana agenda akura, ni indwara ibaho mu buzima bwe bwose . Kubwibyo, umwana azakenera kuvurwa neza no gukurikiranwa mu buzima bwe bwose.

Ese indwara ya Jeanons iteje akaga?

Yego, indwara ya Jeavons Syndrome ishobora guteza akaga mu bihe bimwe na bimwe . Imiterere n'uburemere bw'indwara yo gupfukama bishobora kugira ingaruka zikomeye ku buzima bw'umwana muri rusange. Kubera ko tutazi igihe indwara yo gupfukama izabera, hari amahirwe menshi ko umwana azagwa atunguranye agakomereka . Kubwibyo, ni ngombwa gushaka ubuvuzi kwa muganga no gukurikiza amabwiriza kugira ngo umwana akomeze kuba mu mutekano.

Ni gake gashoboka gute kugira iyi ndwara?

Indwara ya Jeavons ifata abantu bari hagati ya 1% na 2% barwaye igicuri. Bivugwa ko abantu bagera kuri miliyoni 50 ku isi barwaye igicuri. Tekereza ukuntu bake muri bo bafite iyi ndwara.

Ni ibihe bimenyetso by'indwara ya Jeavons Syndrome?

Hari ibintu bitatu by'ingenzi biranga indwara ya Jevons:

1. Amaso y'umwana afunga cyangwa ahumbya buri gihe bitewe no kwihuta kw'imitsi y'amaso (`Eyelid Myoclonia`) ku bushake.Muri iki gihe, umutwe n'amatwi by'umwana bishobora gusubira inyuma. Ibi bishobora kubaho iyo umuntu atakaje ubwenge cyangwa adatakaje ubwenge ("ubusabe bwo gukubita"). Ibi akenshi bimara amasegonda make. Ibi bishobora kubaho inshuro nyinshi ku munsi, ariko akenshi bigaragara mu gitondo iyo umuntu akangutse .

2. Ibisebe biterwa no gufunga amaso (`Eyelid closure-elicited electroencephalographic paroxysms`) ni ibisebe biterwa n'impinduka mu mucyo cyangwa kubura ibitotsi. Iki ni igihe umwana afunga amaso maze agahura n'imiterere idasanzwe y'amashanyarazi mu bwonko (`Eyelid closure-elicited electroencephalographic paroxysms`). Muganga ashobora gushaka iyi miterere akoresheje ikizamini cya `EEG``.

3. Gufata urumuri rw'izuba. Amatara yaka ashobora gutera indwara zo mu mutwe. Amatara yaka cyangwa impinduka z'urumuri (urugero: imirasire y'izuba inyura mu biti) bishobora gutera ububabare.

Tekereza, mu gihe umwana wawe arimo gukina, amaso ye ahita atangira guhumeka vuba umutwe usubira inyuma. Nyuma y'amasegonda make, asubira mu buzima bwe busanzwe. Byaba bibabaje gute ibi bibaye inshuro nyinshi ku munsi?

Byongeye kandi, umwana ashobora kugira gutitira mu buryo butunguranye amaboko n'amaguru (`Myoclonic seizures`) cyangwa gutitira umubiri wose (`Grand mal` cyangwa `Tonic-clonic seizures`) . Ariko, ibi ntibikunze kubaho cyane.

Ni ibihe bintu bitera indwara ya Jeavons Syndrome?

Ibi bimenyetso ahanini biterwa n'amatara yaka cyane, yaka cyangwa ashaje .

• Amatara ya Strobe nk'amatara ya disco
• Itara rigomba guhindurwa (ryaka, rizimye)
• Izuba ryahise rigaragara mu bicu
• Umucyo ucana hejuru y'amazi
• Imiterere y'urumuri ihinduka iyo imodoka inyura mu biti

Ibi bintu bishobora gutera indwara zo mu mutwe. Kubwibyo , kwirinda urumuri runaka cyangwa kurinda amaso y'umwana wawe impinduka mu mucyo bishobora kugabanya inshuro nyinshi z'ibyo bimenyetso.

Ibimenyetso bya Jeavons Syndrome bitangira ku kigero kingana iki?

Ibi bimenyetso akenshi bitangira mu bwana . Impuzandengo y'imyaka itangira ni hagati y'umwaka 1 na 15 , ariko inyinshi muri zo zigaragara hagati y'imyaka 6 na 8 .

Ni iki gitera indwara ya Jeanons Syndrome?

Impamvu nyayo itera indwara ya Jevons ntabwo irasobanuka neza , ariko ubushakashatsi bwerekana ko hari impinduka mu miterere y'uturemangingo . Byagaragaye ko impinduka zimwe na zimwe mu miterere ikurikira zishobora gutera iyi ndwara yo gukubita:

• `CHD2`
• `COL6A3`
• `KCNB1`
• `NAA10`
• `NEXMIF`
• `RORB`
• `SYNGAP1`

Zimwe mu mpinduka mu miterere y’uturemangingo zitera iyi ndwara ntiziramenyekana. Uburyo buri mpinduka mu miterere y’uturemangingo ihererekanywa kuva ku gisekuru kugeza ku kindi (umurage) bushobora gutandukana. Ushobora gusaba ubufasha bw’umujyanama mu by’imiterere y’uturemangingo kugira ngo umenye byinshi kuri ibi.

Ni nde uri mu kaga gakomeye ko kugira iyi ndwara?

Umuntu wese ashobora kurwara indwara ya Jeavons Syndrome. Ariko, ibyago byo kurwara indwara y'igicuri ni byinshi iyo umuntu wo mu muryango wawe arwaye indwara y'igicuri . Abana bagera kuri 80% basanzwe barwaye indwara ya Jeavons bafite uwo bafitanye isano mu maraso nawe ufite igicuri rusange .

Nanone, iyi ndwara ikunze kugaragara cyane ku bakobwa kurusha abahungu .

Ni izihe ngorane zishobora guterwa na Syndrome ya Jeavons?

Umuntu umwe kuri batanu basanzwe barwaye Jevons syndrome ashobora kugira indwara yo kubura igicuri inshuro nyinshi zikurikiranya, nta kuruhuka hagati yabyo. Ibi byitwa eyelid myoclonic status epilepticus .

Icy'ingenzi kurushaho, indwara ya epilepticus ni ikibazo cyihutirwa cy’ubuvuzi gishyira ubuzima mu kaga. Bisaba ubuvuzi bwihuse!

Niba umwana wawe afite igicuri kimara iminota irenga 5, cyangwa niba afite igicuri inshuro nyinshi zikurikiranye nta guhagarara hagati yacyo, hamagara 911 ako kanya cyangwa ujyane umwana wawe mu ishami rishinzwe ubutabazi bw’ibanze ry’ibitaro biri hafi yawe.

Indwara y'igicuri ishobora no kugira ingaruka zikomeye ku buzima bwo mu mutwe bw'umwana . Nyuma yo gukubita igicuri, umwana ashobora kugira ubwoba no kudatuza. Guhangayika no kwiheba nabyo ni ibintu bisanzwe muri Jevons syndrome. Kubwibyo, ni ngombwa kwita ku buzima bwo mu mutwe bw'umwana, kandi nibiba ngombwa, ugashaka ubufasha ku mujyanama w'ubuzima bwo mu mutwe .

Ni gute indwara ya Jeanons Syndrome ipimwa?

Umuganga asuzuma indwara ya Jeavons Syndrome akurikije ibi bipimo n'ibintu bikurikira:

• Mu gukora ikizamini cy'imitsi.
• Mu kumenya uko ubuzima bw'umwana buhagaze n'amateka y'ubuzima bw'umuryango we (cyane cyane igicuri).
• Mu gukora ikizamini cya EEG (Electroencephalogram - EEG).

Muri ibi bizamini, muganga azareba ibimenyetso bitatu by'ingenzi bya Jevons syndrome twavuze haruguru. Azakuraho n'izindi ndwara zishobora gutera ibimenyetso nk'ibyo kugira ngo amenye neza indwara.

Indwara ya Jeanons ivurwa ite?

Indwara ya Jevons ivurwa n'imiti igabanya ubukana bw'indwara.Byongeye kandi, muganga wawe ashobora kukugira inama yo kwambara indorerwamo zidasanzwe kugira ngo ugenzure ibimenyetso biterwa n'urumuri.

Ni ubuhe bwoko bw'imiti ikoreshwa kuri ibi?

Muganga w'umwana wawe ashobora kuguha umuti umwe cyangwa myinshi muri iyi ikurikira igabanya ihungabana (itondetswe mu buryo bw'inyuguti):

• Brivaracetam `(Brivaracetam)`
• Clobazam
• Ethosuximide
• Lacosamide
• Lamotrigine
• Levetiracetam `(Levetiracetam)`
• Perampanel `(Perampanel)`
• Topiramate
• aside Valproic `(aside Valproic)`

Buri wese akira imiti y'igicuri mu buryo butandukanye . Bishobora gufata igihe kugira ngo ubone imiti ikwiye cyangwa ivanze y'imiti ikwiriye umwana wawe, kandi ushobora kugerageza imiti itandukanye . Ibi bishobora kuba ibintu bibabaza kandi rimwe na rimwe bikaba igihe kirekire. Muri iki gihe, uzakenera kujya kwa muganga w'umwana wawe buri gihe kugira ngo urebe uko umubiri w'umwana wawe witabira imiti.

Muganga azakubwira kandi ingaruka mbi zishobora guterwa n'imiti iyo ari yo yose umwana wawe ahabwa. Niba ufite ikibazo ku bijyanye n'ubuvuzi muganga agusaba, mubaze.

Ese iyi ndwara ishobora kuvurwa no guhindura indyo y'umwana?

Nta ndyo yihariye isabwa kuvura indwara ya Jeavons Syndrome. Kugeza ubu nta makuru afatika agaragaza ikoreshwa ry’indyo ya ketogenic mu kuvura iyi ndwara.

Ni iki kizakurikiraho ku mwana urwaye indwara ya Jeavons Syndrome? (Ibisobanuro ku isuzuma)

Ahazaza h'umwana ufite iyi ndwara hatandukanye bitewe n'imimerere yihariye y'umwana . Muganga w'umwana wawe ni we muntu mwiza wo kumenya kuri ibi.

Nta muti uhari wa Jevons syndrome, ariko hari ubushakashatsi bwinshi burimo gukorwa. Nubwo ari indwara y'ubuzima bwose, hari uburyo bwo kuvura indwara zo mu mutwe .

Ese indwara ya Jeanons igira ingaruka ku bwenge bw'umwana?

Gufatwa n'indwara zo mu mutwe no guhumbya bishobora kubangamira ubushobozi bw'umwana bwo kwiga mu ishuri . Iyo badashobora gufungura amaso neza, bishobora kugorana kwitabira amasomo byuzuye. Abana benshi barwaye indwara ya Jevons bafite ingorane zo kwiga ku ishuri kandi bashobora gukenera ubufasha bw'inyongera mu burezi . Ariko, iyi ndwara ntabwo igira ingaruka ku bwenge bw'umwana .

Iyo umwana afite ikibazo cyo kudakura neza, bishobora kuba ikimenyetso cy'uko hari impamvu y'imiterere y'umubiri itera indwara ya Jevons.

Ese indwara ya Jeanons igira ingaruka ku buzima?

Indwara ya Jeavons Syndrome ntabwo igira ingaruka ku buzima bw'umwana . Ubuzima busanzwe burashoboka. Ariko, uburemere bw'indwara zo mu mutwe n'uburyo umubiri w'umwana witabira kuvurwa bishobora kugira ingaruka ku buzima bw'umwana muri rusange. Umuganga ashobora gufasha gukurikirana no gucunga indwara mu buzima bwe bwose.

Ni ryari ngomba kujya kwa muganga?

Niba umwana wawe agize isereri ku nshuro ya mbere, hamagara inzego z’ubutabazi bwihuse cyangwa umujyane kwa muganga.

Niba wowe cyangwa umwana wawe mwarafashwe na Jeavons Syndrome, niba mufite igicuri cyangwa ibimenyetso bisa nkaho birushaho kwiyongera, cyangwa niba mufite ingaruka mbi zikomoka ku kuvurwa, hita ubonana na muganga . Muganga wawe ashobora kugufasha wowe n'umwana wawe guhangana n'iyi ndwara no gusubiza ibibazo byanyu.

Ni ibihe bibazo ngomba kubaza muganga?

• "Muganga/Madamu, ni ubuhe buryo bwo kuvura bwiza ku mwana wanjye?"
• "Ni izihe ngaruka mbi zishobora guterwa n'ubu buryo bwo kuvura?"
• "Ese uragira inama yo gukoresha ubwoko bwihariye bw'indorerwamo kugira ngo umenye urumuri?"
• "Nafasha nte umwana wanjye ku ishuri?"

Ese indwara y'ibihwagari ifitanye isano na syndrome ya Jeavons?

Indwara y'ibihwagari n'indwara ya Jeavons ni indwara ebyiri zisa . Indwara y'ibihwagari na yo ni ubwoko bw'igicuri bujyana na myoclonia y'amaso. Muri ibi, umuntu ashobora guhindukira yerekeza ku isoko ry'urumuri rwinshi (nk'izuba) akazunguza ikiganza cye imbere y'amaso ye. Ibi bishobora gutuma habaho impinduka mu miterere y'urumuri no gutera isereri.

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

Hari igihe twibagirwa akamaro k'urumuri mu buzima bwacu bwa buri munsi. Urumuri rudufasha kubona mu mwijima no guhinga ibimera, urugero. Ariko ku muntu urwaye indwara ya Jeavons Syndrome, urumuri rushobora gutera indwara zo mu mutwe . Muganga ashobora kugufasha gucunga uburyo urumuri rugira ingaruka ku mwana wawe. Bashobora kukwandikira imiti n'indorerwamo zidasanzwe zo gupfuka amaso.

Wibuke:

• Indwara ya Jeavons ni indwara idasanzwe ariko ishobora kugorana .
• Ibimenyetso by'ingenzi ni guhumeka bitunguranye, kumva urumuri, no gutinya fotofobiya .
• Nubwo iyi ari indwara ibaho ubuzima bwose, ishobora kugenzurwa hakoreshejwe imiti no guhindura imibereho .
• Witondere ubuzima bwo mu mutwe bw'umwana wawe . Shaka ubufasha bw'inzobere mu gihe bibaye ngombwa.
• Indwara yo mu mutwe imara iminota irenga 5 cyangwa ifatwa n'indwara nyinshi ni ikibazo cyihutirwa! Shaka ubufasha bwihuse kwa muganga.

Ndizera ko aya makuru yagufashije gusobanukirwa iki kibazo. Ndifuriza umwana wawe gukira vuba!

Indwara ya Jevons , igicuri, ibibyimba, indwara y'amaso, indwara y'abana, indwara yo kwiyongerera ubushake bwo kubona urumuri, EEG