Masifunde ngobuthathaka bemisipha yokuzalwa (Congenital Myasthenic Syndrome - CMS)

Ngaba wakha waphawula ukuba umntwana omncinci udinwa ngokukhawuleza, nokuba udlala okanye wenza imisebenzi emincinci, aze azive ngathi akanawo amandla? Ngaba ngamanye amaxesha uziva ngathi kunzima ukutya, ukuthetha, okanye ukuqhwanyaza? Ukuba uneempawu ezinje, kusenokwenzeka ukuba kungenxa yobuthathaka bemisipha esiza kuthetha ngayo namhlanje, ebizwa ngokuba yi-`(Congenital Myasthenic Syndrome)` okanye `(CMS)` ngamafutshane. Ungakhathazeki, masithethe ngale nto ngokweenkcukacha, ngokulula.

Yintoni `(Congenital Myasthenic Syndrome - CMS)`?

Ngamafutshane, `(CMS)` liqela leemeko ezikhoyo ekuzalweni. Eyona nto iphambili eyenzekayo koku kukuba izihlunu ziba buthathaka ngexesha lokuzilolonga ngokomzimba, oko kukuthi, xa kusenziwa into ethile. Igama elithi ``congenital`` lithetha ``ukuzalwa ukususela ekuzalweni.''

Cinga ngale nto, xa sihlala senza umthambo onjalo, kuyinto eqhelekileyo ukuziva udiniwe kancinci. Kodwa kumntu one-`(CMS)`, nokuba wenza into encinci, njengokuhamba okanye ukudlala, izihlunu ziba buthathaka kwaye kuba nzima ukuqhubeka nalo msebenzi. Nangona kunjalo, xa uyeka ukwenza loo msebenzi uze uphumle okwethutyana, uba ngcono kwakhona.

Le meko idla ngokuchaphazela izihlunu zobuso . Oko kukuthi, izihlunu esizisebenzisayo ukuhlafuna, ukuginya, nokuqhwanyaza. Ingachaphazela nezinye izihlunu (esizibiza ngokuba "ziihlunu zamathambo") ezisinceda sihambehamba.

Iimpawu zinokuba buthathaka kakhulu kwabanye abantu, kwaye zibe buhlungu kakhulu kwabanye. Kwiimeko ezinzima, zinokuba yingozi ebomini, ingakumbi ukuba zichaphazela izihlunu ezikuncedayo ukuphefumla.

Apho umyalezo phakathi kwemithambo-luvo kunye nemisipha udideka khona!

Izihlunu zethu zisebenza ngokusekelwe kwimiyalezo evela kwimithambo-luvo. Njengokuba kufuneka iswitshi ukuze ukhanyise isibane, izihlunu zidinga umyalezo wemithambo-luvo ukuze zisebenze. Kukho indawo ekhethekileyo apho ezi seli zemithambo-luvo kunye neeseli zemisipha zidibana khona kwaye ziqhagamshelane. Oogqirha bakubiza oku ngokuthi "yi-neuromuscular junction". Cinga ngayo njengebhulorho encinci edlulisela imiyalezo.

Okwenzekayo kumntu one-`(CMS)` kukuba kukho ingxaki ngaloo bridge, ngoko ke imiyalezo evela kwiiseli zemithambo-luvo eziya kwiiseli zemisipha ayidluli kakuhle. Yiyo loo nto izihlunu zingasebenzi kakuhle kwaye ziba buthathaka.

Ngaba kukho iintlobo ze-`(CMS)`?

Ewe, kukho iintlobo ezininzi eziphambili zale meko "(CMS)". Oogqirha bahlela ezi ngokwendawo apho ingxaki ikhoyo "kwindawo yokuhlangana kwemithambo-luvo" endikhankanyileyo ngaphambili, oko kukuthi, indawo apho imithambo-luvo kunye nemisipha kudibana khona.

Kukho iintlobo ezintathu ikakhulu:

1. I-Presynaptic congenital myasthenic syndrome: Kwimeko enjalo, ingxaki ikwiseli yemithambo-luvo ethumela umyalezo.

2. I-Synaptic congenital myasthenic syndrome yenzeka kwindawo ephakathi kweseli yemithambo-luvo kunye neseli yemisipha:Ingxaki apha kukuba umsantsa ofana nebhulorho.

3. I-Postsynaptic congenital myasthenic syndrome: Ingxaki koku ikwiseli yemisipha efumana umyalezo.

Ngaphezu koko, ngaphakathi kolunye uhlobo lwezi, kukho ezinye iintlobo ezincinci ezisekelwe kwiziphene kwiindawo ezithile zelungu, njenge-"basal lamina" okanye i-"acetylcholine receptor". La ngamagama ezonyango anzima ngakumbi, kodwa nantsi ingcamango engeyiyo.

Ixhaphake kangakanani le meko `(CMS)`?

I-CMS yimeko engaqhelekanga kakhulu. Akukho datha ingako malunga nokuba ixhaphake kangakanani. Uphononongo olwenziwe e-UK lufumanise ukuba ichaphazela malunga ne-9 kwizigidi zabantwana abangaphantsi kweminyaka eli-18 ubudala. Elo linani liphantsi kakhulu.

Yintoni umahluko phakathi kwe-`(CMS)` kunye ne-`(Myasthenia Gravis)`?

Usenokuba ukhe weva ngesifo esithi "Myasthenia Gravis." Zombini ezi zifo zibangela ubuthathaka bemisipha ngenxa yengxaki kwindlela imithambo-luvo ethumela ngayo imiyalezo kwimisipha. Kodwa kukho umahluko omkhulu phakathi kwezi zimbini.

• (Congenital Myasthenic Syndrome - CMS): Esi sisifo semfuza. Oko kukuthi, sibangelwa lutshintsho lwemfuza (`uguquko`) olukhoyo ekuzalweni.
• I-Myasthenia Gravis: Le yimeko yokuzikhusela komzimba . Oku kuthetha ukuba inkqubo yomzimba wethu yokuzikhusela ihlasela ngempazamo indawo yokuhlangana kwemisipha.

Ngamafutshane, `(CMS)` yingxaki "yoyilo" (iijini). `(Myasthenia Gravis)` kukungaqondi kakuhle inkqubo yokuzikhusela yomzimba.

Zithini iimpawu zomntu one-`(CMS)`?

Iimpawu zingahluka kancinci ngokuxhomekeke kuhlobo lwe-CMS, kodwa iimpawu eziqhelekileyo ziquka:

• Izihlunu ziyasebenza kakhulu kwaye zibe buthathaka xa udiniwe emzimbeni. Uyadinwa nasemva kokwenza umsebenzi omncinci.
• Ubunzima bokulawula okanye ukuphulukana nolawulo lwezihlunu .
• Iinkophe ezigobileyo (ezikwabizwa ngokuba yi-ptosis).
• Umbono ophindwe kabini .
• Iliso libonakala ngathi litsalwa kwicala elinye (iliso elivilaphayo).
• Ubunzima bokuthetha (ilizwi lisenokutshintsha, lisenokuba litsho ngelizwi eliphantsi).
• Ubunzima bokuginya ukutya.

Ukuba umntwana unenye okanye ngaphezulu kwezi mpawu, kubaluleke kakhulu ukufuna ingcebiso kagqirha.

Ziqala nini xa iimpawu ze-`(CMS)`?

Iimpawu ze-CMS zihlala ziqala ebuntwaneni, ngexesha lobuntwana okanye ebuntwaneni . Ukuba umntwana wakho ucotha ukuphuhlisa izakhono zomzimba (umzekelo, ucotha ukukhasa, ukuma, okanye ukuhamba), oku kungaba luphawu lwesi sifo.

Nangona kunjalo, iimpawu zezinye iintlobo ze-`(CMS)`Ingabonakala kamva kancinci, umzekelo, ebutsheni okanye nasemva kwexesha lokuba ngumntu omdala.

Zithini izizathu ze-`(CMS)`?

Njengoko benditshilo ngaphambili, imbangela ephambili ye-`(CMS)` kukutshintsha kwezakhi zofuzo, oko kukuthi, `(uguquko).` Yonke into emzimbeni wethu ilawulwa zizakhi zofuzo. Ngoko ke, ukuba kukho isiphene kwizakhi zofuzo eziyalela ukuveliswa kweeproteni ezinceda kwinkqubo yokuthwala imiyalezo esuka kwimithambo-luvo ukuya kwimisipha, le meko ye-`(CMS)` iyenzeka.

Kukho ii-genes ezininzi ezibandakanyekayo koku. Nazi imizekelo embalwa:

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

Ezi jini zezona ziyalela iiseli ukuba zivelise iiproteni ezifunekayo ekutshintshiselaneni kwemiyalezo kwindawo yokudibana kwemithambo-luvo. Ukuba kukho `(utshintsho)` kwezi jini, oko kukuthi, utshintsho, iiseli azifumani miyalelo ngokufanelekileyo. Emva koko imiyalezo ewela kuloo bhulorho iyaphazamiseka. Yiloo nto ibangela iimpawu ze `(CMS)`.

Ingaba yinto evela kwisizukulwana `(CMS)`?

Ewe, `(CMS)` yimeko enokuzuzwa njengelifa kwizizukulwana ngezizukulwana.

Idla ngokuzuzwa njengelifa ngendlela ethi "autosomal recessive". Oku kuthetha ukuba ukuze umntwana abe nale meko, bobabini abazali bemvelo kufuneka bazuze i-gene enesiphene. Abazali basenokungabi nazo ezi mpawu, kodwa banokuba ngabathwali.

Ezinye iintlobo ze-CMS zinokufunyanwa njengelifa kwi-autosomal dominant pattern . Kwimeko enjalo, umntwana unokuba nale meko nokuba uzuze i-gene enesiphene kumzali omnye kuphela webhayoloji .

Kwakhona, ngamanye amaxesha umntu unokuba ne-CMS ngenxa yokuguquka okungacwangciswanga , nokuba akukho mntu kusapho lwakhe owakha waba nale meko ngaphambili.

Ngubani osengozini enkulu yokuphuhlisa `(CMS)`?

Nabani na angayiphuhlisa i-CMS. Nangona kunjalo, ukuba kukho umntu kusapho lwakho onayo le meko (imbali yosapho lwebhayoloji), nawe usemngciphekweni omkhulu wokuba nayo.

Ziziphi iingxaki ezibangelwa yi-`(CMS)`?

Le meko `(CMS)` inokubangela iingxaki ezahlukeneyo. Ezinye zazo zezi:

• Ubunzima bokuncanca okanye ukutya (ingakumbi kwiintsana).
• Izihlunu eziqinileyo .
• Ukulibaziseka ekudluleni kwezigaba ezibalulekileyo zophuhliso (ingakumbi kwizakhono zokunyakaza).
• Ukungakwazi ukuhamba.
• Ukuphefumla okwethutyana (i-apnea).
• Ukuxhuzula ( okufana nokuqina komzimba )
• Ukukhubazeka kwengqondo - Oku akwenzeki kuwo wonke umntu, kuyenzeka kwiintlobo ezithile kuphela.
• Iingxaki zemithambo-luvo (i-neuropathy).
• Ukungasebenzi kakuhle kwemetabolism .

Ayizizo zonke ezi ngxaki ezenzeka kuye wonke umntu. Kuxhomekeke kuhlobo lwe-CMS, ubukhali bayo, kunye nokuba unyango luphumelela kangakanani.

Ungayichonga njani imeko `(CMS)`?

Ugqirha uza kuxilonga i-CMS ngokukuxilonga kakuhle aze enze uvavanyo kwinkqubo yakho yemithambo-luvo. Uza kukubuza ngeempawu zakho aze athathe imbali epheleleyo yezonyango (njengokuba kukho umntu kusapho lwakho okhe waba nale meko).

Ukuba ukrokrela ukuba une-CMS, ugqirha wakho angakucela ukuba wenze umthambo omncinci phambi kwakhe (umzekelo, ukunyuka izinyuko) ukuze abone ukuba umzimba wakho usabela njani.

Ukongeza, ezinye iimvavanyo zingenziwa ukuze kuthintelwe ezinye iimeko ezinokubangela iimpawu ezifanayo:

• Uvavanyo lwegazi .
• Uphononongo lokuqhuba imithambo-luvo - Uvavanyo olulinganisa isantya imiyalezo ehamba ngaso kwimithambo-luvo.
• I-Electromyography (EMG) - Uvavanyo olulinganisa umsebenzi wombane wemisipha.

Uvavanyo lwe-genetic lwe-`(CMS)`

Uvavanyo lwemfuza luvavanyo olubaluleke kakhulu ekuxilongeni i-CMS. Lunceda ekufumaneni utshintsho oluthile lwemfuza olubangela iimpawu zakho. Ugqirha wakho uza kuthatha isampuli encinci yegazi lakho aze avavanye i-DNA ekulo. Ukwazi ukuba loluphi uhlobo lwe-CMS onalo kunye nokuba ingxaki ikuphi kwindawo yokudibana kwemithambo-luvo kunokunceda ugqirha wakho ukuba acwangcise unyango lwakho.

Iphathwa njani `(CMS)`?

Okwangoku akukho nyango lwe-CMS. Nangona kunjalo, kukho unyango olunokunceda ukulawula iimpawu nokwenza ubomi bube lula.

Amayeza adla ngokusetyenziswa ukugcina okanye ukuphucula ukusebenza kwezihlunu. Ugqirha wakho angakunika amayeza anjengala:

• Ii-agonists ze-cholinergic (umz. i-pyridostigmine, i-amifampridine okanye i-3,4-diaminopyridine).
• Ii-open channel blockers (umz. i-fluoxetine okanye i-quinidine).
• Ii-agonists ze-Adrenergic (umz. i-salbutamol okanye i-ephedrine).

Kubalulekile: Ungaze uwasebenzise la mayeza ngaphandle kwengcebiso kagqirha. Kwakhona, ayizizo zonke amayeza ezisebenza kuzo zonke iintlobo ze-`(CMS)`. Ke ngoko, ukuxilongwa ngokufanelekileyo kunye neengcebiso kagqirha kubalulekile.

Nangona ukwenza umthambo kunokwenza iimpawu zibe zimbi ngakumbi, ugqirha wakho unokukuthumela kwingcali yonyango lomzimba.Fumanisa ukuba zeziphi imithambo kunye nemisebenzi ekhuselekileyo, ethambileyo, nefanelekileyo kuwe. Ezi ziya kunceda ukuthintela ukuqina kwemisipha kwaye zigcine impilo entle.

Abanye abantu banokufuna ukusebenzisa izixhobo zokuncedisa ukwenza imisebenzi yemihla ngemihla. Umzekelo, ukusebenzisa isitulo esinamavili kunokunceda ukuthintela iingozi kwaye kube lula ukuhambahamba.

Ngaba kukho naziphi na iziphumo ebezingalindelekanga zale mithi?

Njengalo naliphi na iyeza, amayeza e-`(CMS)` anokubangela ezinye iziphumo ebezingalindelekanga. Ezi ziyahluka ngokuxhomekeke kuhlobo lweyeza. Ezinye zeziphumo ebezingalindelekanga eziqhelekileyo ziquka:

• Ukuqaqamba kwesisu.
• Ukusabela kokunganyamezelani.
• Iingxaki zokuphefumla.
• Urhudo.
• Ukudinwa kakhulu.
• Ukwanda kokuveliswa kwamathe okanye ukubila.
• Utshintsho lombono.

Ngaphambi kokuba uqalise naluphi na unyango, thetha nogqirha wakho malunga nemiphumo emibi enokubakho kwaye ube nolwazi olufanelekileyo. Emva koko ungenza izigqibo ezinolwazi malunga nempilo yakho.

Iyintoni imbono yomntu one-`(CMS)`? (Ingqikelelo)

Iimpawu ze-CMS zahlukile kakhulu kumntu nomntu. Abanye abantu banokuba neempawu ezincinci kakhulu ezingachaphazeli ubomi babo. Abanye banokuba neempawu ezinzima ezinokuba yingozi ebomini, ezifana nobunzima bokuphefumla . Ugqirha wakho angakunika umbono ongcono ngemeko yakho.

Ngaba `(CMS)` iyayichaphazela indlela ephila ngayo ubomi?

I-CMS isenokuchaphazela okanye ingachaphazeli ubomi bakho. Ukuba uneempawu ezincinci, i-CMS isenokungabi nampembelelo ibalulekileyo kwimpilo yakho iyonke. Nangona kunjalo, ukuba iimpawu zichaphazela izihlunu ezilawula ukuphefumla kwakho, zinokuchaphazela ubomi bakho. Iqela lakho lezonyango liya kukunceda ulawule iimpawu zakho ukuthintela iingxaki ezisongela ubomi.

Ngaba `(CMS)` ingathintelwa?

Okwangoku, akukho ndlela ifunyenweyo yokuthintela imeko ethi ``(CMS)```.

Ukuba uceba ukuqala usapho, ungabonana nogqirha ukuze akunike iingcebiso ngemfuza ukuze ufunde okungakumbi ngomngcipheko wokuba nomntwana onesifo semfuza.

Kwakhona, ukuba une-CMS, soloko uxelela ugqirha wakho ngaphambi kokuba uqale naliphi na iyeza elitsha. Amanye amayeza (umzekelo, amanye amayeza okubulala iintsholongwane, amayeza entliziyo, kunye namayeza engqondo) angenza iimpawu ze-CMS zibe zimbi ngakumbi. Ukuba oku kuyenzeka, ugqirha wakho unokucebisa amanye amayeza.

Ndifanele ndimbone nini ugqirha?

Ukuba wena okanye umntwana wakho nifumana iimpawu zobuthathaka bemisipha (CMS) ngexesha lomsebenzi womzimba, bonana nogqirha ngokukhawuleza.

Yomntwana wakhoUkuba umntwana wakho akakwazi ukutya okanye ulibaziseka ekufikeleleni kwinqanaba lokukhula, xelela ugqirha womntwana wakho.

Ingxamiseko! Ukuba umntwana unengxaki yokuphefumla, okanye ukuba ulusu, imilebe, okanye iinzipho ziba mhlophe kwaye zibe ngwevu-luhlaza okwesibhakabhaka (`cyanosis`), fowunela u-911 ngoko nangoko, okanye umse kwicandelo likaxakeka lesibhedlele esikufutshane.

Ndingayibuza yiphi imibuzo ugqirha wam?

Emva kokuba wena okanye umntwana wakho nifunyaniswe ukuba nine-CMS, ninokuba nemibuzo emininzi. Musa ukoyika ukubuza ugqirha wakho ngayo. Nazi ezinye zemizekelo:

• Luhlobo luni lwe-`(CMS)` olunalo umntwana wam/wam?
• Loluphi unyango olucebisayo?
• Zithini iziphumo ebezingalindelekanga zezi ndlela zonyango?
• Ukuba umntwana wam une-`(CMS)`, ngaba angakwazi ukuthatha inxaxheba kwimidlalo okanye kwezinye izinto?

Iimpawu ze-CMS azifani kuye wonke umntu. Ngamanye amaxesha, izinto ezinje ngokunyuka izinyuko nokuzilolonga zinokuba nzima kancinci. Ugqirha wakho unokucebisa nokusebenzisa izixhobo zokuncedisa, ezifana nesitulo esinamavili, ukunceda ukuthintela ukuwa okanye ukwenzakala.

Abantwana abafunyaniswe benesi simo bangathatha ixesha elide ukuqonda amanyathelo abalulekileyo okukhula, ingakumbi izakhono zokuhamba komzimba ezifana nokuhamba, xa kuthelekiswa nabanye abantwana abaneminyaka yabo. Ukuba ubona oku kusenzeka kumntwana wakho, thetha nogqirha wakho.

Okokugqibela, izinto ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

Nangona iCongenital Myasthenic Syndrome (CMS) yimeko engaqhelekanga ebangela ubuthathaka bemisipha obukhoyo ekuzalweni, ngokuxilongwa nokulawulwa ngokufanelekileyo, uninzi lwabantu lunokuphila ubomi obuqhelekileyo.

• Lumka ngeempawu: Lumka ngakumbi ngezinto ezifana nokulibaziseka kokukhula kwabantwana kunye nokudinwa kakhulu ngexesha lokuzilolonga.
• Funa ingcebiso kagqirha: Ukuba unamathandabuzo, kubalulekile ukubona ugqirha ukuze ufumane uxilongo olufanelekileyo.
• Landela unyango lwakho ngokuchanekileyo: Landela imiyalelo kagqirha wakho kunye namayeza ngokuchanekileyo. Ukuba bacebisa izinto ezifana nonyango lomzimba, musa ukuzityeshela.
• Hlala unethemba: Ukuphila nale meko kunokuba nzima, kodwa awuwedwa. Kukho oogqirha, abagqirha bezonyango, kunye nabantu obathandayo abanokukunceda.

Iqela lakho lezonyango lelona ndawo ilungileyo yokukunceda uqonde imeko yakho kunye nonyango olufanelekileyo kuwe. Ngoko ke, ungoyiki ukubuza imibuzo yakho kwaye wabelane ngezinto ezikuxhalabisayo.

Isifo seMyasthenic esizalwa naso , i-CMS, ubuthathaka bemisipha, izifo zemfuza, imithambo-luvo, izifo zabantwana, iziphene zokuzalwa