Tiyeni tiphunzire za kufooka kwa minofu yobadwa nayo (Congenital Myasthenic Syndrome - CMS)

Kodi munayamba mwaonapo kuti mwana wamng'ono amatopa msanga, ngakhale akusewera kapena kuchita ntchito zazing'ono, ndipo amamva ngati alibe mphamvu? Kodi nthawi zina mumamva kuti zimakuvutani kudya, kulankhula, kapena kuphethira? Ngati muli ndi zizindikiro ngati izi, mwina chifukwa cha kufooka kwa minofu komwe tikambirane lero, komwe kumatchedwa `(Congenital Myasthenic Syndrome)` kapena `(CMS)` mwachidule. Musadandaule, tiyeni tikambirane za izi mwatsatanetsatane, mwachidule.

Kodi `(Congenital Myasthenic Syndrome - CMS)` ndi chiyani?

Mwachidule, `(CMS)` ndi gulu la matenda omwe amapezeka pobadwa. Chinthu chachikulu chomwe chimachitika pamenepa ndichakuti minofu imafooka panthawi yochita masewera olimbitsa thupi, ndiko kuti, pochita zinazake. Mawu akuti ``congenital`` amatanthauza ``kubadwa kuyambira kubadwa.''

Taganizirani izi, tikamachita masewera olimbitsa thupi ngati amenewo, ndi zachilendo kumva kutopa pang'ono. Koma kwa munthu amene ali ndi `(CMS)`, ngakhale kuchita chinthu chaching'ono, monga kuyenda kapena kusewera, minofu imafooka ndipo zimakhala zovuta kupitiriza kuchita zimenezo. Komabe, mukasiya kuchita zimenezo ndikupuma kwakanthawi, zimakhala bwino pang'ono.

Matendawa nthawi zambiri amakhudza minofu ya kumaso . Izi zikutanthauza kuti, minofu yomwe timagwiritsa ntchito kutafuna, kumeza, ndi kuphethira. Ingakhudzenso minofu ina (yomwe timaitcha kuti "minofu ya mafupa") yomwe imatithandiza kuyenda ndi kuyenda.

Zizindikiro zimatha kukhala zochepa kwambiri kwa anthu ena, komanso zovuta kwambiri kwa ena. Pakakhala zovuta kwambiri, zimatha kupha anthu, makamaka ngati zimakhudza minofu yomwe imakuthandizani kupuma.

Kumene uthenga pakati pa mitsempha ndi minofu umasokonezeka!

Minofu yathu imagwira ntchito potengera mauthenga ochokera ku mitsempha. Monga momwe switch imafunikira kuti iyatse nyali, minofu imafunika uthenga wa mitsempha kuti igwire ntchito. Pali malo apadera pomwe maselo a mitsempha ndi maselo a minofu amakumana ndikulumikizana. Madokotala amatcha izi kuti "malo olumikizirana mitsempha". Taganizirani ngati mlatho wawung'ono womwe umatumiza mauthenga.

Chomwe chimachitika kwa munthu amene ali ndi `(CMS)` ndichakuti pali vuto ndi mlatho umenewo, kotero mauthenga ochokera ku maselo amitsempha kupita ku maselo a minofu sapita bwino. Ichi ndichifukwa chake minofu sigwira ntchito bwino ndipo imakhala yofooka.

Kodi pali mitundu ya `(CMS)`?

Inde, pali mitundu ingapo yayikulu ya vuto la ``(CMS)``. Madokotala amaika izi m'magulu malinga ndi komwe vuto lili pa ``neuromuscular junction`` yomwe ndatchula kale, kutanthauza malo omwe mitsempha ndi minofu zimakumana.

Pali mitundu itatu makamaka:

1. Matenda a myasthenic a Presynaptic congenital: Pankhaniyi, vuto lili mu selo ya mitsempha yomwe imatumiza uthenga.

2. Synaptic congenital myasthenic syndrome imachitika pakati pa selo ya mitsempha ndi selo ya minofu:Vuto apa ndi mpata wofanana ndi mlatho.

3. Postsynaptic congenital myasthenic syndrome: Vuto la izi lili mu minofu yomwe imalandira uthenga.

Kuphatikiza apo, mkati mwa mitundu yonseyi, pali mitundu ina yaing'ono kutengera zolakwika m'magawo enaake a cholumikizira, monga ``basal lamina'' kapena ``acetylcholine receptor''. Awa ndi mawu ovuta kwambiri azachipatala, koma nayi lingaliro losavuta.

Kodi vutoli ndi lofala bwanji (CMS)?

Matenda a CMS ndi matenda osowa kwambiri. Palibe zambiri zokhudza momwe matendawa amachitikira. Kafukufuku wina ku UK adapeza kuti amakhudza ana pafupifupi 9 pa ana miliyoni aliwonse osakwana zaka 18. Chiwerengero chimenecho ndi chochepa kwambiri.

Kodi kusiyana pakati pa `(CMS)` ndi `(Myasthenia Gravis)` ndi kotani?

Mwina munamvapo za matenda otchedwa "Myasthenia Gravis." Matenda onsewa amayambitsa kufooka kwa minofu chifukwa cha vuto la momwe mitsempha imatumizira mauthenga ku minofu. Koma pali kusiyana kwakukulu pakati pa awiriwa.

• (Congenital Myasthenic Syndrome - CMS): Imeneyi ndi matenda a majini. Ndiko kuti, amayamba chifukwa cha kusintha kwa majini (`mutation`) komwe kumachitika munthu akangobadwa.
• Myasthenia Gravis: Ichi ndi vuto la autoimmune . Izi zikutanthauza kuti chitetezo cha mthupi lathu chimaukira molakwika malo olumikizirana mitsempha.

Mwachidule, `(CMS)` ndi vuto ndi "kapangidwe" (majini). `(Myasthenia Gravis)` ndi "kusamvetsetsana" kwa chitetezo cha thupi.

Kodi zizindikiro za munthu amene ali ndi `(CMS)` ndi ziti?

Zizindikiro zimatha kusiyana pang'ono malinga ndi mtundu wa CMS, koma zizindikiro zofala kwambiri ndi izi:

• Minofu imagwira ntchito mopitirira muyeso komanso imafooka mukatopa. Mumatopa ngakhale mutagwira ntchito pang'ono.
• Kuvuta kulamulira kapena kutaya mphamvu ya minofu .
• Makope opindika (omwe amatchedwanso ptosis).
• Kuwona kawiri .
• Diso limawoneka ngati lakokedwa mbali imodzi (diso laulesi).
• Kuvuta kulankhula (mawu angasinthe, angamveke ngati osamveka bwino).
• Kuvuta kumeza chakudya.

Ngati mwana ali ndi chimodzi mwa zizindikiro izi kapena zingapo, ndikofunikira kwambiri kufunafuna upangiri wa dokotala.

Kodi zizindikiro za `(CMS)` nthawi zambiri zimayamba pa msinkhu wanji?

Zizindikiro za CMS nthawi zambiri zimayamba ali mwana, ali wakhanda kapena ali mwana . Ngati mwana wanu akuchedwa kukula luso loyendetsa thupi (monga, amachedwa kukwawa, kuima, kapena kuyenda), izi zitha kukhala chizindikiro cha vutoli.

Komabe, zizindikiro za mitundu ina ya `(CMS)`Zingaonekerenso patapita nthawi pang'ono, mwachitsanzo, muunyamata kapena ngakhale mutakhala wamkulu.

Kodi zifukwa za `(CMS)` ndi ziti?

Monga ndanenera kale, chifukwa chachikulu cha `(CMS)` ndi kusintha kwa majini, kutanthauza `(mutation).` Chilichonse m'thupi lathu chimayendetsedwa ndi majini. Chifukwa chake, ngati pali cholakwika m'majini omwe amaphunzitsa kupanga mapuloteni omwe amathandiza kunyamula mauthenga kuchokera ku mitsempha kupita ku minofu, vutoli la `(CMS)` limachitika.

Pali majini angapo omwe amagwirizana ndi izi. Nazi zitsanzo zingapo:

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

Majini amenewa ndi omwe amalangiza maselo kupanga mapuloteni ofunikira potumiza mauthenga pa malo olumikizirana mitsempha. Ngati pali `(mutation)` m'majini awa, ndiko kuti, kusintha, maselo salandira malangizo moyenera. Kenako mauthenga odutsa mlathowo amasokonezeka. Ndicho chimene chimayambitsa zizindikiro za `(CMS)`.

Kodi ndi chinthu chomwe chimachokera ku m'badwo wa `(CMS)`?

Inde, `(CMS)` ndi vuto lomwe lingatengedwe kuchokera ku mibadwomibadwo.

Kawirikawiri imabadwa mwachibadwa mu "autosomal recessive". Izi zikutanthauza kuti kuti mwana akhale ndi vutoli, makolo onse awiri ayenera kulandira jini lolakwika. Makolowo sangakhale ndi zizindikiro, koma akhoza kukhala ndi matendawa.

Mitundu ina ya CMS ingathenso kutengera mu autosomal dominant pattern . Zikatero, mwana akhoza kukhala ndi vutoli ngakhale atalandira jini lolakwika kuchokera kwa kholo limodzi lokha .

Komanso, nthawi zina munthu amatha kudwala CMS chifukwa cha kusintha kwadzidzidzi kwa thupi , ngakhale palibe m'banjamo amene wakhalapo ndi vutoli kale.

Ndani ali pachiwopsezo chachikulu cha matenda a `(CMS)`?

Aliyense akhoza kukhala ndi CMS. Komabe, ngati wina m'banja mwanu ali ndi vutoli (mbiri ya banja), inunso muli pachiwopsezo chachikulu chotenga matendawa.

Kodi mavuto omwe amabwera chifukwa cha `(CMS)` ndi ati?

Matenda a `(CMS)` angayambitse mavuto osiyanasiyana. Ena mwa iwo ndi awa:

• Kuvuta kuyamwa kapena kudya (makamaka mwa makanda).
• Minofu yolimba.
• Kuchedwa kudutsa zochitika zofunika kwambiri pakukula (makamaka luso la magalimoto).
• Kulephera kuyenda.
• Kupuma pang'onopang'ono (apnea).
• Kukomoka ( monga momwe zimakhalira )
• Kulemala kwa nzeru - Izi sizichitika kwa aliyense, koma kwa mitundu ina yokha.
• Matenda a mitsempha (neuropathy).
• Zovuta za kagayidwe kachakudya .

Si mavuto onsewa omwe amapezeka mwa aliyense. Zimatengera mtundu wa CMS, kuopsa kwake, komanso momwe chithandizocho chimayendera bwino.

Kodi mungazindikire bwanji momwe `(CMS)` ilili?

Dokotala adzakudziwitsani za CMS mwa kukufufuzani bwino ndikukuyesani mitsempha yanu. Adzakufunsani za zizindikiro zanu ndikulemba mbiri yonse yachipatala (monga ngati pali aliyense m'banja mwanu amene wakhalapo ndi vutoli).

Ngati mukuganiza kuti muli ndi CMS, dokotala wanu angakupempheni kuti muchite masewera olimbitsa thupi pang'ono pamaso pake (monga kukwera masitepe) kuti muwone momwe thupi lanu limayankhira.

Kuphatikiza apo, mayeso ena angachitike kuti athetse matenda ena omwe angayambitse zizindikiro zofanana:

• Kuyezetsa magazi .
• Kuphunzira za kayendedwe ka mitsempha - Mayeso omwe amayesa liwiro lomwe mauthenga amadutsa m'mitsempha.
• Electromyography (EMG) - Mayeso omwe amayesa mphamvu yamagetsi ya minofu.

Kuyesa majini kwa `(CMS)`

Kuyezetsa majini ndi mayeso ofunikira kwambiri pozindikira CMS. Kumathandiza kupeza kusintha kwa majini komwe kukuyambitsa zizindikiro zanu. Dokotala wanu adzatenga chitsanzo chaching'ono cha magazi anu ndikuyesa DNA yomwe ili mmenemo. Kudziwa mtundu wa CMS yomwe muli nayo komanso komwe vuto lili kungathandize dokotala wanu kukonzekera chithandizo chanu.

Kodi `(CMS)` imachiritsidwa bwanji?

Pakadali pano palibe mankhwala a CMS. Komabe, pali mankhwala omwe angathandize kuchepetsa zizindikiro ndikupangitsa moyo kukhala wosavuta.

Mankhwala nthawi zambiri amagwiritsidwa ntchito kuti minofu igwire bwino ntchito. Dokotala wanu angakupatseni mankhwala monga:

• Mankhwala oletsa kutupa (monga pyridostigmine, amifampridine kapena 3,4-diaminopyridine).
• Mankhwala otsekereza njira zotseguka (monga fluoxetine kapena quinidine).
• Mankhwala a adrenergic agonists (monga salbutamol kapena ephedrine).

Chofunika: Musagwiritse ntchito mankhwalawa popanda upangiri wa dokotala. Komanso, si mankhwala onse omwe amagwira ntchito pa mitundu yonse ya `(CMS)`. Chifukwa chake, kuzindikira bwino matenda ndi upangiri wa dokotala ndikofunikira.

Ngakhale kuti kuchita masewera olimbitsa thupi kungapangitse kuti zizindikirozo ziwonjezeke, dokotala wanu angakutumizireni kwa katswiri wodziwa bwino za thupi.Dziwani masewera olimbitsa thupi ndi zochita zomwe zili zotetezeka, zofewa, komanso zoyenera kwa inu. Izi zithandiza kupewa kuuma kwa minofu ndikukhala ndi thanzi labwino.

Anthu ena angafunikenso kugwiritsa ntchito zipangizo zothandizira pogwira ntchito za tsiku ndi tsiku. Mwachitsanzo, kugwiritsa ntchito njinga ya olumala kungathandize kupewa ngozi komanso kupangitsa kuti kuyenda kukhale kosavuta.

Kodi pali zotsatirapo zilizonse za mankhwalawa?

Monga mankhwala ena aliwonse, mankhwala a `(CMS)` angayambitse zotsatira zina. Izi zimasiyana malinga ndi mtundu wa mankhwala. Zina mwa zotsatirapo zake zofala ndi izi:

• Kupweteka m'mimba.
• Kusamva bwino kwa ziwengo.
• Mavuto opuma.
• Kutsegula m'mimba.
• Kutopa kwambiri.
• Kuchuluka kwa malovu kapena thukuta.
• Kusintha kwa masomphenya.

Musanayambe kumwa mankhwala aliwonse, lankhulani ndi dokotala wanu za zotsatirapo zake ndipo mudziwe bwino. Kenako mutha kupanga zisankho zolondola zokhudza thanzi lanu.

Kodi chiyembekezo cha munthu amene ali ndi `(CMS)` ndi chotani? (Zomwe zidzachitike)

Zizindikiro za CMS zimasiyana kwambiri malinga ndi munthu. Anthu ena akhoza kukhala ndi zizindikiro zochepa kwambiri zomwe sizikhudza miyoyo yawo. Ena akhoza kukhala ndi zizindikiro zoopsa zomwe zingawononge moyo wawo, monga kupuma movutikira . Dokotala wanu angakupatseni malingaliro abwino kwambiri pa vuto lanu.

Kodi `(CMS)` imakhudza moyo wa munthu?

CMS ingakhudze kapena ayi moyo wanu wonse. Ngati muli ndi zizindikiro zochepa, CMS ikhoza kusakhudza kwambiri thanzi lanu lonse. Komabe, ngati zizindikirozo zikukhudza minofu yomwe imalamulira kupuma kwanu, zingakhudze moyo wanu wonse. Gulu lanu lachipatala lidzakuthandizani kuthana ndi zizindikiro zanu kuti mupewe mavuto omwe angakupheni.

Kodi `(CMS)` ingapewedwe?

Pakadali pano, palibe njira yomwe yapezeka yopewera vuto la ``(CMS)```.

Ngati mukukonzekera kuyambitsa banja, mutha kuwona dokotala kuti akupatseni upangiri wa majini kuti mudziwe zambiri za chiopsezo chokhala ndi mwana wokhala ndi matenda a majini.

Komanso, ngati muli ndi CMS, nthawi zonse uzani dokotala wanu musanayambe mankhwala atsopano. Mankhwala ena (monga maantibayotiki ena, mankhwala a mtima, ndi mankhwala amisala) angapangitse kuti zizindikiro za CMS ziipireipire. Ngati izi zitachitika, dokotala wanu angakulangizeni mankhwala ena.

Kodi ndiyenera kupita kwa dokotala liti?

Ngati inu kapena mwana wanu mukukumana ndi zizindikiro za kufooka kwa minofu (CMS) panthawi yochita masewera olimbitsa thupi, pitani kwa dokotala nthawi yomweyo.

Kwa mwana wanuNgati mwana wanu sangathe kudya kapena akuchedwa kufika pamlingo wokulirapo, uzani dokotala wa mwana wanu.

Zadzidzidzi! Ngati mwana akuvutika kupuma, kapena ngati khungu, milomo, kapena misomali yayamba kuoneka yotumbululuka komanso yabuluu-imvi (`cyanosis`), imbani 911 nthawi yomweyo, kapena mupite naye ku dipatimenti yothandiza anthu odwala mwadzidzidzi kuchipatala chapafupi.

Ndi mafunso ati omwe ndiyenera kufunsa dokotala wanga?

Mukapezeka ndi CMS, mungakhale ndi mafunso ambiri. Musaope kufunsa dokotala wanu za mafunsowo. Nazi zitsanzo zina:

• Kodi mwana wanga/wanga ali ndi mtundu wanji wa `(CMS)`?
• Kodi mumalimbikitsa chithandizo chanji?
• Kodi zotsatirapo zake ndi ziti?
• Ngati mwana wanga ali ndi `(CMS)`, kodi angathe kutenga nawo mbali pamasewera kapena zochitika zina?

Zizindikiro za CMS sizifanana kwa aliyense. Nthawi zina, zinthu monga kukwera masitepe ndi kuchita masewera olimbitsa thupi zingakhale zovuta pang'ono. Dokotala wanu angakulangizeninso kugwiritsa ntchito zipangizo zothandizira, monga mpando wa olumala, kuti mupewe kugwa kapena kuvulala.

Ana omwe apezeka ndi vutoli angatenge nthawi yayitali kuti adziwe bwino zinthu zofunika kwambiri pakukula, makamaka luso loyendetsa thupi monga kuyenda, poyerekeza ndi ana ena azaka zawo. Ngati muwona izi zikuchitika kwa mwana wanu, lankhulani ndi dokotala wanu.

Pomaliza, zinthu zoti muzikumbukira (Uthenga Wopita Nawo Kunyumba)

Ngakhale kuti Congenital Myasthenic Syndrome (CMS) ndi vuto losowa lomwe limayambitsa kufooka kwa minofu komwe kumachitika pobadwa, ngati matenda ndi chithandizo choyenera chikuchitika, anthu ambiri amatha kukhala ndi moyo wabwinobwino.

• Dziwani zizindikiro: Dziwani makamaka zinthu monga kuchedwa kwa chitukuko mwa ana komanso kutopa kwambiri panthawi yochita masewera olimbitsa thupi.
• Funani upangiri kwa dokotala: Ngati mukukayikira, ndikofunikira kuonana ndi dokotala kuti mudziwe bwino matendawa.
• Tsatirani chithandizo chanu molondola: Tsatirani malangizo ndi mankhwala a dokotala wanu molondola. Ngati akulangizani zinthu monga physiotherapy, musawasiye.
• Khalani ndi chiyembekezo: Kukhala ndi vutoli kungakhale kovuta, koma simuli nokha. Pali madokotala, akatswiri azachipatala, ndi okondedwa anu omwe angakuthandizeni.

Gulu lanu lachipatala ndi malo abwino kwambiri okuthandizani kumvetsetsa vuto lanu komanso chithandizo choyenera kwa inu. Choncho, musaope kufunsa mafunso anu ndikugawana nkhawa zanu.

Matenda a Congenital Myasthenic, CMS, kufooka kwa minofu, matenda a majini, mitsempha ya mitsempha, matenda a ana, zilema zobadwa nazo