Ake sifunde ngobuthakathaka bemisipha yokuzalwa (Congenital Myasthenic Syndrome - CMS)

Wake waphawula ukuthi ingane encane ikhathala ngokushesha, ngisho noma idlala noma yenza imisebenzi emincane, futhi izizwa sengathi ayinawo amandla? Ingabe ngezinye izikhathi uzizwa sengathi kunzima ukudla, ukukhuluma, noma ngisho nokucwayiza? Uma unezimpawu ezinjengalezi, kungase kube ngenxa yobuthakathaka bemisipha esizokhuluma ngayo namuhla, okubizwa ngokuthi `(Congenital Myasthenic Syndrome)` noma `(CMS)` ngamafuphi. Ungakhathazeki, ake sixoxe ngalokhu ngokuningiliziwe, kalula kakhulu.

Kuyini `(Congenital Myasthenic Syndrome - CMS)`?

Kalula nje, `(CMS)` yiqembu lezimo ezikhona lapho kuzalwa. Into eyinhloko eyenzekayo kulokhu ukuthi imisipha iba buthaka ngesikhathi sokuzikhandla ngokomzimba, okungukuthi, lapho kwenziwa okuthile. Igama elithi ``congenital`` lisho ``ukuzalwa kusukela ekuzalweni.''

Cabanga ngakho, uma sivame ukwenza ukuzivocavoca okunjalo, kuyinto evamile ukuzizwa ukhathele kancane. Kodwa kumuntu one-`(CMS)`, ngisho nokwenza into encane, njengokuhamba noma ukudlala, imisipha iba buthakathaka futhi kuba nzima ukuqhubeka nalowo msebenzi. Kodwa-ke, uma uyeka ukwenza lowo msebenzi bese uphumula isikhashana, kuba ngcono kancane futhi.

Lesi simo sivame ukuthinta imisipha ebusweni . Okusho ukuthi, imisipha esiyisebenzisa ukuhlafuna, ukugwinya, nokucwayiza. Singathinta neminye imisipha (esiyibiza ngokuthi "imisipha yamathambo") esisiza ukuthi sihambe futhi sihambe.

Izimpawu zingaba mnene kakhulu kwabanye abantu, futhi zibe nkulu kakhulu kwabanye. Ezimweni ezimbi kakhulu, zingaba yingozi empilweni, ikakhulukazi uma zithinta imisipha ekusiza ukuphefumula.

Lapho umyalezo ophakathi kwezinzwa nemisipha udideka khona!

Imisipha yethu isebenza ngokusekelwe emilayezweni evela ezinzwa. Njengoba nje kudingeka iswishi ukuze kuvulwe isibani, imisipha idinga umyalezo wezinzwa ukuze isebenze. Kukhona indawo ekhethekile lapho la maseli ezinzwa namaseli emisipha ehlangana khona futhi axhumane. Odokotela bakubiza lokhu ngokuthi "ukuhlangana kwemizwa". Cabanga ngakho njengebhuloho elincane elidlulisela imiyalezo.

Okwenzekayo kumuntu one-`(CMS)` ukuthi kunenkinga ngaleyo bhuloho, ngakho-ke imiyalezo evela kumaseli ezinzwa eya kumaseli emisipha ayidluli kahle. Yingakho imisipha ingasebenzi kahle futhi iba buthakathaka.

Ingabe kukhona izinhlobo ze-`(CMS)`?

Yebo, kunezinhlobo eziningana eziyinhloko zalesi simo esithi "(CMS)". Odokotela bahlukanisa lezi zinhlobo ngokuya ngokuthi inkinga ikuphi ngempela "ekuhlanganeni kwemizwa nemisipha" engikushilo ekuqaleni, okungukuthi, indawo lapho kuhlangana khona imizwa nemisipha.

Kunezinhlobo ezintathu ikakhulukazi:

1. I-Presynaptic congenital myasthenic syndrome: Kulesi simo, inkinga isesiseleni sezinzwa esithumela umyalezo.

2. I-synaptic congenital myasthenic syndrome yenzeka esikhaleni esiphakathi kweseli yezinzwa kanye neseli yemisipha:Inkinga lapha yileso sikhala esifana nebhuloho.

3. I-Postsynaptic congenital myasthenic syndrome: Inkinga kulokhu isesiseleni semisipha ethola umyalezo.

Ngaphezu kwalokho, ngaphakathi kwalezi zinhlobo ngazinye, kunezinhlobo ezincane ezengeziwe ezisekelwe emaphutheni ezingxenyeni ezithile zejoyinti, njenge-"basal lamina" noma i-"acetylcholine receptor". Lawa ngamagama ezokwelapha ayinkimbinkimbi kancane, kodwa nansi umqondo onzima.

Sivame kangakanani lesi simo `(CMS)`?

I-CMS empeleni iyisimo esingavamile kakhulu. Akukho mininingwane eminingi yokuthi sivame kangakanani. Ucwaningo e-UK luthole ukuthi sithinta cishe izingane eziyizigidi ezingu-9 kwezingaphansi kweminyaka engu-18. Lelo yinani eliphansi kakhulu.

Uyini umehluko phakathi kwe-`(CMS)` kanye ne-`(Myasthenia Gravis)`?

Kungenzeka ukuthi uke wezwa ngesifo esithi "Myasthenia Gravis." Zombili lezi zifo zibangela ubuthakathaka bemisipha ngenxa yenkinga ngendlela imizwa ethumela ngayo imiyalezo emisipheni. Kodwa kunomehluko omkhulu phakathi kwalezi ezimbili.

• (Congenital Myasthenic Syndrome - CMS): Lesi yisifo esibangelwa izakhi zofuzo. Okusho ukuthi, sibangelwa ushintsho lwezakhi zofuzo (`ukuguqulwa kwezakhi zofuzo`) olukhona lapho umuntu ezalwa.
• I-Myasthenia Gravis: Lesi yisimo sokuzivikela komzimba . Lokhu kusho ukuthi amasosha omzimba wethu ahlasela ngephutha i-neuromuscular junction.

Kalula nje, i-CMS "iyinkinga ngohlelo" (ezizakhini zofuzo). I-Myasthenia Gravis "iwukungaqondi kahle" uhlelo lokuzivikela lomzimba.

Ziyini izimpawu zomuntu one-`(CMS)`?

Izimpawu zingase zihluke kancane kuye ngohlobo lwe-CMS, kodwa izimpawu ezivame kakhulu zifaka:

• Imisipha iyasebenza kakhulu futhi iba buthaka uma ukhathele ngokomzimba. Uyakhathala ngisho nangemva kokusebenza kancane.
• Ubunzima bokulawula noma ukulahlekelwa ukulawula imisipha .
• Amajwabu amehlo alengayo (abizwa nangokuthi i-ptosis).
• Ukubona okukabili .
• Iso libonakala sengathi lidonseleke eceleni (iso elivilaphayo).
• Ubunzima bokukhuluma (izwi lingashintsha, lingase lihoshe).
• Ubunzima bokugwinya ukudla.

Uma ingane inesinye noma ngaphezulu salezi zimpawu, kubaluleke kakhulu ukufuna iseluleko sezokwelapha.

Izimpawu ze-`(CMS)` zivame ukuqala nini eminyakeni emingaki?

Izimpawu ze-CMS zivame ukuqala ebuntwaneni, ngesikhathi sobuntwana noma ebuntwaneni . Uma ingane yakho yephuza ukuthuthukisa amakhono okunyakaza komzimba (isibonelo, yephuza ukukhasa, ukuma, noma ukuhamba), lokhu kungaba uphawu lwesimo.

Kodwa-ke, izimpawu zezinye izinhlobo ze-`(CMS)`Kungabonakala futhi kamuva, isibonelo, ebusheni noma ngisho nakamuva lapho umuntu esemdala.

Yiziphi izimbangela ze-`(CMS)`?

Njengoba ngishilo ngaphambili, imbangela eyinhloko ye-`(CMS)` ushintsho lwezakhi zofuzo, okungukuthi, `(ukuguqulwa kwezakhi zofuzo).` Konke emzimbeni wethu kulawulwa izakhi zofuzo. Ngakho-ke, uma kukhona iphutha ezakhi zofuzo ezifundisa ukukhiqizwa kwamaprotheni asiza enkambisweni yokuthwala imiyalezo esuka emithanjeni iye emisipheni, lesi simo se-`(CMS)` siyenzeka.

Kunezakhi zofuzo eziningana ezihilelekile kulokhu. Nazi izibonelo ezimbalwa:

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

Lezi zakhi zofuzo yizo ezifundisa amaseli ukuthi akhiqize amaprotheni adingekayo ukuze kudluliselwe imiyalezo endaweni yokuhlangana kwemisipha. Uma kukhona `(ukuguqulwa)` kulezi zakhi zofuzo, okungukuthi, ushintsho, amaseli awatholi imiyalelo kahle. Khona-ke imiyalezo ewela kulelo bhuloho iyaphazamiseka. Yilokho okubangela izimpawu ze-`(CMS)`.

Ingabe kuyinto evela esizukulwaneni `(CMS)`?

Yebo, `(CMS)` yisimo esingazuzwa njengefa kusukela esizukulwaneni kuya kwesinye.

Ngokuvamile izuzwa njengefa ngendlela "yokugoba kwe-autosomal". Lokhu kusho ukuthi ukuze ingane ibe nalesi simo, bobabili abazali bemvelo kumele bazuze ifa lesakhi sofuzo esingalungile. Abazali bangase bangabi nazimpawu, kodwa bangaba ngabathwali baso.

Ezinye izinhlobo ze-CMS nazo zingazuzwa njengefa ngendlela elawulayo ye-autosomal . Kuleso simo, ingane ingaba nalesi simo noma ngabe izuza ifa lesakhi sofuzo esingalungile kumzali oyedwa kuphela wemvelo .

Futhi, ngezinye izikhathi umuntu angaba ne-CMS ngenxa yokuguquka okungahleliwe , noma ngabe akekho emndenini oke waba nalesi simo ngaphambili.

Ubani osengozini enkulu yokuthola `(CMS)`?

Noma ubani angaba ne-CMS. Kodwa-ke, uma othile emndenini wakho enalesi simo (umlando womndeni wemvelo), nawe usengozini enkulu yokuba naso.

Yiziphi izinkinga ezibangelwa yi-`(CMS)`?

Isimo `(CMS)` singabangela izinkinga ezahlukahlukene. Ezinye zazo yilezi:

• Ubunzima bokuncela noma ukudla (ikakhulukazi ezinganeni).
• Imisipha eqinile .
• Ukwephuza ukudlula izigaba ezibalulekile zokukhula (ikakhulukazi kumakhono okunyakaza).
• Ukungakwazi ukuhamba.
• Ukuphefumula okungapheli (i-apnea).
• Ukuquleka ( okufana nokuqina komzimba )
• Ukukhubazeka kwengqondo - Lokhu akwenzeki kuwo wonke umuntu, kwenzeka ezinhlotsheni ezithile kuphela.
• Izinkinga zemizwa (i-neuropathy).
• Ukuphazamiseka kwe-metabolic .

Akuzona zonke lezi zinkinga ezenzeka kuwo wonke umuntu. Kuya ngohlobo lwe-CMS, ubukhali bayo, nokuthi ukwelashwa kuphumelele kangakanani.

Ungasibona kanjani isimo `(CMS)`?

Udokotela uzokuhlola i-CMS ngokukuhlola kahle nokwenza izivivinyo ohlelweni lwakho lwezinzwa. Uzobuza ngezimpawu zakho futhi athathe umlando ophelele wezokwelapha (njengokuthi ngabe kukhona yini emndenini wakho oke waba nalesi simo).

Uma usola ukuthi une-CMS, udokotela wakho angase akucele ukuthi wenze umsebenzi omncane womzimba phambi kwakhe (isibonelo, ukukhuphuka izitebhisi) ukuze abone ukuthi umzimba wakho usabela kanjani.

Ngaphezu kwalokho, ezinye izivivinyo zingenziwa ukuze kunqunywe ezinye izimo ezingase zibangele izimpawu ezifanayo:

• Ukuhlolwa kwegazi .
• Ucwaningo lokuqhutshwa kwemizwa - Ukuhlolwa okukala isivinini imiyalezo ehamba ngaso ngemizwa.
• I-Electromyography (EMG) - Ukuhlolwa okulinganisa umsebenzi kagesi wemisipha.

Ukuhlolwa kofuzo kwe-`(CMS)`

Ukuhlolwa kwezakhi zofuzo kuyindlela ebaluleke kakhulu yokuhlola i-CMS. Kuyasiza ukuthola ushintsho oluthile lwezakhi zofuzo olubangela izimpawu zakho. Udokotela wakho uzothatha isampula encane yegazi lakho bese ehlola i-DNA ekulo. Ukwazi ukuthi hlobo luni lwe-CMS onalo nokuthi inkinga ikuphi lapho kuhlangana khona imisipha kungasiza udokotela wakho ukuthi ahlele ukwelashwa kwakho.

Iphathwa kanjani i-`(CMS)`?

Okwamanje akukho ukwelashwa kwe-CMS. Kodwa-ke, kunezindlela zokwelapha ezingasiza ekulawuleni izimpawu futhi zenze impilo ibe lula.

Imithi ivame ukusetshenziselwa ukugcina noma ukuthuthukisa ukusebenza kwemisipha. Udokotela wakho angase akunike imithi efana nalokhu:

• Ama-agonist e-cholinergic (isib. i-pyridostigmine, i-amifampridine noma i-3,4-diaminopyridine).
• Ama-blocker eziteshi ezivulekile (isib. i-fluoxetine noma i-quinidine).
• Ama-agonist e-Adrenergic (isib. i-salbutamol noma i-ephedrine).

Okubalulekile: Ungalokothi usebenzise le mithi ngaphandle kweseluleko sezokwelapha. Futhi, akuyona yonke imithi esebenza kuzo zonke izinhlobo ze-`(CMS)`. Ngakho-ke, ukuxilongwa okufanele kanye neseluleko sezokwelapha kubalulekile.

Nakuba umsebenzi womzimba ungenza izimpawu zibe zimbi kakhulu, udokotela wakho angakudlulisela kudokotela wezokwelapha ngokomzimba.Thola ukuthi yimiphi imisebenzi yokuzivocavoca ephephile, ethambile, nefanele wena. Lokhu kuzosiza ekuvimbeleni ukuqina kwemisipha nokugcina impilo enhle.

Abanye abantu kungadingeka basebenzise amadivayisi okusiza ukuze benze imisebenzi yansuku zonke. Isibonelo, ukusebenzisa isihlalo sabakhubazekile kungasiza ekuvimbeleni izingozi futhi kwenze kube lula ukuhambahamba.

Ingabe ikhona imiphumela emibi yalo muthi?

Njenganoma yimuphi umuthi, imithi ye-`(CMS)` ingabangela imiphumela emibi ethile. Lokhu kuyahlukahluka kuye ngohlobo lomuthi. Eminye yemiphumela emibi evamile ihlanganisa:

• Ubuhlungu besisu.
• Ukusabela kokungezwani komzimba.
• Izinkinga zokuphefumula.
• Uhudo.
• Ukukhathala ngokweqile.
• Ukwanda kokukhiqizwa kwamathe noma umjuluko.
• Izinguquko zombono.

Ngaphambi kokuqala noma yimuphi umuthi, khuluma nodokotela wakho ngemiphumela emibi engaba khona futhi ube nolwazi oluphelele. Ngemuva kwalokho ungenza izinqumo ezinolwazi mayelana nempilo yakho.

Uyini umbono womuntu one-`(CMS)`? (Isibikezelo)

Izimpawu ze-CMS ziyahlukahluka kakhulu kumuntu nomuntu. Abanye abantu bangase babe nezimpawu ezincane kakhulu ezingathinti impilo yabo. Abanye bangase babe nezimpawu ezinzima ezingasongela impilo, njengobunzima bokuphefumula . Udokotela wakho angakunikeza umbono ongcono ngesimo sakho.

Ingabe `(CMS)` ithinta isikhathi sokuphila?

I-CMS ingase ithinte noma ingayithinti impilo yakho. Uma unezimpawu ezincane, i-CMS ingase ingabi nomthelela omkhulu empilweni yakho iyonke. Kodwa-ke, uma izimpawu zithinta imisipha elawula ukuphefumula kwakho, zingathinta impilo yakho. Ithimba lakho lezokwelapha lizokusiza ukuphatha izimpawu zakho ukuze uvimbele izinkinga ezisongela impilo.

Ingabe `(CMS)` ingavinjelwa?

Kuze kube manje, akukho ndlela etholakele yokuvimbela isimo ``(CMS)```.

Uma uhlela ukuqala umndeni, ungabonana nodokotela ukuze akunike iseluleko ngofuzo ukuze ufunde kabanzi ngengozi yokuba nengane enesifo sofuzo.

Futhi, uma une-CMS, hlala utshela udokotela wakho ngaphambi kokuqala noma yimuphi umuthi omusha. Eminye imithi (isibonelo, eminye imithi elwa namagciwane, imithi yenhliziyo, kanye nemithi yengqondo) ingenza izimpawu ze-CMS zibe zimbi kakhulu. Uma lokhu kwenzeka, udokotela wakho angase ancome eminye imithi.

Kufanele ngimbone nini udokotela?

Uma wena noma ingane yakho nibona izimpawu zobuthakathaka bemisipha (CMS) ngesikhathi sokuzivocavoca umzimba, bona udokotela ngokushesha.

Okwengane yakhoUma ingane yakho ingakwazi ukudla noma ilibele ukufinyelela izigaba zokukhula, tshela udokotela wengane yakho.

Isimo Esiphuthumayo! Uma ingane inenkinga yokuphefumula, noma uma isikhumba, izindebe, noma izinzipho ziba mhlophe futhi zibe luhlaza okwesibhakabhaka (`cyanosis`), shayela u-911 ngokushesha, noma uyiyise emnyangweni wezimo eziphuthumayo wesibhedlela esiseduze.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Ngemva kokuba wena noma ingane yakho nitholakale nine-CMS, ningase nibe nemibuzo eminingi. Ungesabi ukubuza udokotela wakho ngayo. Nazi ezinye izibonelo:

• Hlobo luni lwe-`(CMS)` ingane yami/yami enalo?
• Yikuphi ukwelashwa okuncomayo?
• Iyini imiphumela emibi yalezi zindlela zokwelapha?
• Uma ingane yami ine-`(CMS)`, ingabe ingakwazi ukuhlanganyela kwezemidlalo noma kweminye imisebenzi?

Izimpawu ze-CMS azifani kuwo wonke umuntu. Ngezinye izikhathi, izinto ezifana nokukhuphuka izitebhisi nokuzivocavoca kungaba nzima kancane. Udokotela wakho angase futhi ancome ukusebenzisa amadivayisi okusiza, njengesihlalo sabakhubazekile, ukusiza ukuvimbela ukuwa noma ukulimala.

Izingane ezitholakale zinalesi simo zingathatha isikhathi eside ukuqonda izinyathelo ezibalulekile zokukhula, ikakhulukazi amakhono okunyakaza komzimba njengokuhamba, uma kuqhathaniswa nezinye izingane ezineminyaka yazo. Uma ubona lokhu kwenzeka enganeni yakho, khuluma nodokotela wakho.

Okokugcina, izinto okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

Nakuba i-Congenital Myasthenic Syndrome (CMS) iyisimo esingavamile esibangela ubuthakathaka bemisipha obukhona lapho kuzalwa, ngokuxilongwa nokuphathwa okufanele, abantu abaningi bangaphila impilo evamile.

• Qaphela izimpawu: Qaphela ikakhulukazi izinto ezifana nokubambezeleka kokukhula kwezingane kanye nokukhathala ngokweqile ngesikhathi sokuzikhandla ngokomzimba.
• Funa iseluleko sezokwelapha: Uma ungabaza, kubalulekile ukubona udokotela ukuze uthole ukuxilongwa okufanele.
• Landela ukwelashwa kwakho kahle: Landela imiyalelo kadokotela wakho kanye nemithi ngqo. Uma bencoma izinto ezifana nokwelashwa ngokomzimba, ungaziyeki.
• Hlala unethemba: Ukuphila nalesi simo kungaba nzima, kodwa awuwedwa. Kukhona odokotela, abelaphi, kanye nabantu obathandayo abangakusiza.

Ithimba lakho lezokwelapha liyindawo engcono kakhulu yokukusiza uqonde isimo sakho nokuthi yiziphi izindlela zokwelapha ezifanele wena. Ngakho-ke, ungesabi ukubuza imibuzo yakho nokwabelana ngezinto ezikukhathazayo.

I- Congenital Myasthenic Syndrome, i-CMS, ubuthakathaka bemisipha, izifo zofuzo, imisipha yemizwa, izifo zezingane, ukukhubazeka kokuzalwa