Lɛ wi lan bɔt di we aw dɛn bɔn am wit di mɔsul dɛn we wik (Congenital Myasthenic Syndrome - CMS) .

Yu dɔn ɛva notis se smɔl pikin kin taya kwik kwik wan, ivin we i de ple ɔ du smɔl wok, ɛn i kin fil lɛk se dɛn nɔ gɛt trɛnk? Sɔntɛnde, yu kin fil se i nɔ kin izi fɔ it, tɔk, ɔ ivin blink? If yu gɛt sɔm kayn sik lɛk dis, i kin bi bikɔs ɔf di kɔnjɛnital mɔsul wik we wi go tɔk bɔt tide, we dɛn kɔl `(Congenital Myasthenic Syndrome)` ɔ `(CMS)` fɔ shɔt. Nɔ wɔri, lɛ wi tɔk bɔt dis ditayli, rili simpul.

Wetin na `(Kɔnjɛnital Mayastɛnik Sindrom - CMS)`?

Fɔ tɔk am simpul wan, `(CMS)` na grup fɔ di kɔndishɔn dɛn we de we dɛn bɔn am. di men tin we kin apin pan dis na we di mכsul dεm kin wik we i de wok tranga wan, dat na we i de du sכmtin. Di wɔd ``kɔnjɛnital`` min ``bɔn frɔm we dɛn bɔn am.''

Tink bɔt am, we wi kin du ɛksɛsayz lɛk dat, i nɔmal fɔ fil taya smɔl. Bɔt fɔ pɔsin we gɛt `(CMS)`, ivin we i de du smɔl tin, lɛk fɔ waka ɔ fɔ ple, di mɔsul dɛn kin wik ɛn i kin at fɔ kɔntinyu da aktiviti de. Bɔt we yu stɔp fɔ du da wok de ɛn rɛst fɔ sɔm tɛm, i kin bɛtɛ smɔl bak.

Dis kכndyushכn kin afekt di mכsul dεm na di fes mכst . Dat min se di mɔsul dɛn we wi kin yuz fɔ it, swɛla, ɛn blink. i kin afekt כda mכsul dεm bak (wi kכl dεn ``skel mכsul dεm``) we de εp wi fכ muv rawnd εn waka.

Di sayn dɛm kin rili smɔl fɔ sɔm pipul dɛm, ɛn kin rili bad fɔ ɔda pipul dɛm. If i siriɔs, i kin mek yu layf de pan denja, mɔ if i afɛkt di mɔsul dɛn we de ɛp yu fɔ blo.

Usay di mɛsej bitwin di nɛf ɛn di mɔsul dɛn kin kɔnfyus!

Wi mכsul dεm de wok bay di mεsej dεm we de kכmכt frכm di nεv dεm. Jɔs lɛk aw dɛn nid swich fɔ mek layt ɔn, na so mɔsul nid wan mɛsej we de na di nerv fɔ mek i ebul fɔ wok. Wan spɛshal ples de usay dɛn nɛv sɛl dɛn ya ɛn di mɔsul sɛl dɛn de mit ɛn kɔnɛkt. dכkta dεn kכl dis di ``nyuromכskul jכnkshכn''. Tink bɔt am lɛk smɔl brij we de transfa mɛsej dɛn.

wetin kin apin to pכsin we gεt `(CMS)` na dat prכblεm de wit da brij de, so di mεsej dεm frכm di nεv sεl dεm to di mכsul sεl dεm nכ de go tru fayn fayn wan. Dis na di rizin we mek di mɔsul dɛn nɔ de wok fayn ɛn dɛn kin wik.

Yu tink se kayn `(CMS)` de?

Yes, sɔm men kayn dɛn de fɔ dis ``(CMS)`` kɔndishɔn. dכkta dεm kin klas dεn wan ya akɔdin to usay di prכblεm de εksakכt na di ``nyuromuskular jכnkshכn`` we a bin tכk bכt, dat na di ples we di nεv εn mכsul de mit.

Tri kayn dɛn de mɔ:

1. Presynaptic congenital myasthenic syndrome: di prכblεm de na di nεv sεl we de sεnd di mεsej.

2. di sinaptik kכnεnital myasthenic sεndrכm de apin na di spεs bitwin di nεv sεl εn di mכsul sεl:Di prɔblɛm we de ya na da gap de we tan lɛk brij.

3. Postsynaptic congenital myasthenic syndrome: di prכblεm we de insay dis na di mכsul sεl we de gεt di mεsej.

pan tap dat, insay εvri wan pan dεn tכp dεm ya, fכda sכb tכp dεm de we de bays pan di dεfekt dεm na spεsifi k pat dεm na di jכint, lεk di ``basal lamina'' כ di ``acetylcholine rεsεpכta''. Dis na smɔl mɔ kɔmpleks mɛdikal wɔd dɛm, bɔt na wan rɔf aydia.

Aw kɔmɔn dis `(CMS)` sityueshɔn?

CMS na rili wan kɔndishɔn we nɔ kin apin so ɔltɛm. Nɔto bɔku data de bɔt aw i kɔmɔn. Wan stɔdi we dɛn du na di UK sho se i kin afɛkt lɛk 9 pan ɛvri milyɔn pikin dɛn we nɔ rich 18 ia yet. Dat na wan nɔmba we rili smɔl.

Wetin na di difrɛns bitwin `(CMS)` ɛn `(Myasthenia Gravis)`?

Yu kin dɔn yɛri bɔt di sik ``Myasthenia Gravis.`` Dɛn tu sik ya kin mek di mɔsul dɛn wik bikɔs ɔf prɔblɛm wit di we aw di nerv dɛn kin sɛn mɛsej to di mɔsul dɛm. Bɔt big difrɛns de bitwin dɛn tu.

• (Congenital Myasthenic Syndrome - CMS): Dis na sik we pɔsin kin gɛt we i kam pan jɛnɛtiks. dat min se i de kכz fכ wan jεnεtik chenj (`mכtεshכn`) we de de we dεn bכn am.
• Myasthenia Gravis: Dis na wan sik we pɔsin kin gɛt we i de fɛt insɛf . dis min se wi bכdi in yon imyun sistεm de mistek atak di nyuromכskular jכnkshכn.

Fɔ tɔk am simpul wan, CMS na "prɔblɛm wit di blɔk" (insay di jin dɛm). Myasthenia Gravis na "misɔndastandin" fɔ di bɔdi in difɛns sistɛm.

Wetin na di sayn dɛm fɔ pɔrsin wae gɛt `(CMS)`?

Di sayn dɛm kin difrɛn smɔl difrɛn wan fɔ di kayn CMS, bɔt di sayn dɛm wae kin kam pan pɔrsin na:

• Di mɔsul dɛn kin wok pasmak ɛn wik we yu taya pan yu bɔdi. Yu kin taya ivin afta yu dɔn du smɔl wok.
• I nɔ kin izi fɔ kɔntrol ɔ lɔs kɔntrol pan di mɔsul dɛn .
• di aylid dεm we de dכp (dεn kכl am bak ptosis).
• Dabl vishɔn .
• i tan lεk se dεn pul di yay na wan say (lazy eye).
• I nɔ kin izi fɔ tɔk (voys kin chenj, kin mek i ala).
• I nɔ izi fɔ swɛla it.

If pikin gɛt wan ɔ mɔ pan dɛn sik ya, i rili impɔtant fɔ go to dɔktɔ.

Na us ej di simptom dɛm fɔ `(CMS)` kin bigin?

Bɔku tɛm, di sayn dɛm fɔ CMS kin bigin we dɛn smɔl, we dɛn smɔl ɔ we dɛn smɔl . If yu pikin de slo fɔ divɛlɔp in motoka skil dɛm (fɔ ɛgzampul, i nɔ de slo fɔ kray, tinap, ɔ waka), dis kin bi sayn fɔ dis sik.

Bɔt di sayn dɛm fɔ sɔm kayn `(CMS)`I kin apia bak smɔl leta, fɔ ɛgzampul, we yu yɔŋ ɔ ivin leta we yu dɔn big.

Wetin na di tin dɛm we de mek `(CMS)`?

as a bin se bifo, di men tin we de mek `(CMS)` na di jεnεtik chenj, dat na `(mכtεshכn).` כltin na wi bכdi na di jin dεm de kכntro am. so, if difεkt de na di jin dεm we de instrכkt di prodyushכn fכ protin dεm we de εp fכ kכri mεsej frכm nεv dεm to mכsul dεm, dis `(CMS)` kכndishכn de apin.

Bɔku jin dɛn de we de insay dis. Na sɔm ɛgzampul dɛn ya:

• `(CHRNE)`
• `(RAPSN)`
• `(CHAT)`
• `(KƆLQ)`
• `(DOK7)`

dis jin dεm na di wan dεm we de instrכkt sεl dεm fכ prodyuz di protin dεm we dεn nid fכ mεsej εkshεnj na di nyuromכskular jכnkshכn. if `(mכteshכn)` de insay dεn jin dεm ya, dat na chenj, di sεl dεm nכ de gεt di instrכkshכn dεm fayn fayn wan. Dɔn di mɛsej dɛn we de krɔs da brij de kin ambɔg. Na dat de mek di sayn dɛm fɔ `(CMS)`.

Na sɔntin we kɔmɔt frɔm di `(CMS)` jɛnɛreshɔn?

Yes, `(CMS)` na kɔndishɔn we pɔsin kin gɛt frɔm jɛnɛreshɔn to jɛnɛreshɔn.

כltεm i kin inhεrit insay wan ``autosomal rεsεsiv'' patεn. Dis min se fɔ mek pikin gɛt dis sik, in mama ɛn papa ɔl tu fɔ gɛt di jin we nɔ fayn. Sɔntɛm de mama ɛn papa nɔr gɛt di sik, bɔt dɛn kin bi pipul dɛm wae gɛt dis sik.

sכm tכp dεm fכ CMS kin inhεrit bak insay wan כtosom dכminant patεn . If na so i bi, pikin kin gɛt dis sik ilɛksɛf na wan mama ɔ papa nɔmɔ dɛn gɛt di jin we nɔ fayn .

Dɔn bak, sɔntɛnde pɔsin kin gɛt CMS bikɔs ɔf wan random mutation , ivin if nɔbɔdi na di famili nɔ bin dɔn gɛt dis sik bifo.

Udat de pan ay risk fɔ gɛt `(CMS)`?

Ɛnibɔdi kin divɛlɔp CMS. Bɔt if pɔrsin na yu famili gɛt dis sik (bayolojikal famili histri), yu kin gɛt dis sik bak.

Wetin na di kɔmplikɛshɔn dɛm we `(CMS)` kin mek?

di kכndishכn `(CMS)` kin mek difrεn kכmplikεshכn dεm. Sɔm pan dɛn na:

• I nɔ izi fɔ suk ɔ it (espɛshali pan bebi dɛn).
• Mɔsul dɛn we stif .
• dilay fכ pas imכtant divεlכpmεnt maylston dεm (especially in mכtalman skil dεm).
• Fɔ bi pɔsin we nɔ ebul fɔ waka.
• Fɔ stɔp fɔ blo wan wan tɛm (apnea).
• Seizure ( we tan lɛk fit ) .
• Intɛlektual disabiliti - Dis nɔ kin apin to ɔlman, na sɔm kayn pipul dɛn nɔmɔ.
• Nɛv dizayd (nyuropathy).
• Di tin dɛn we nɔ de apin na di bɔdi .

Nɔto ɔl dɛn prɔblɛm ya kin apin to ɔlman. I dipen pan di kayn CMS, aw i kin tranga, ɛn aw di tritmɛnt kin wok fayn.

Aw fɔ no di `(CMS)` stetɔs?

Dɔktɔ go no se yu gɛt CMS bay we i go chɛk yu gud gud wan ɛn du tɛst pan yu nervɔs sistɛm. I go aks bɔt yu sik ɛn tek wan kɔmplit mɛdikal histri (lɛk if ɛnibɔdi na yu famili dɔn gɛt dis sik).

If yu tink se yu gɛt CMS, yu dɔktɔ kin aks yu fɔ du sɔm layt fyzikal aktiviti bifo am (fɔ ɛgzampul, fɔ klaym stej) fɔ si aw yu bɔdi de ansa.

Apat frɔm dat, dɛn kin du sɔm tɛst fɔ no ɔda tin dɛn we kin mek pɔsin gɛt di sem kayn sik:

• Blɔd tɛst dɛn .
• Nεv kכndukshכn stכdi - na tεst we de mכsu di spid we di mεsej dεm de travul tru di nεv dεm.
• ilektromayografi (EMG) - na tεst we de mכsu di ilektrikal aktiviti fכ di mכsul dεm.

Jɛnɛtik tɛst fɔ `(CMS)`

Jɛnɛtik tɛst na rili impɔtant tɛst fɔ no if pɔsin gɛt CMS. I kin ɛp fɔ no di patikyula jin chenj we de mek yu gɛt di sik. Yu dɔktɔ go tek smɔl blɔd ɛn tɛst di DNA we de insay. If yu no us kayn CMS yu gɛt ɛn usay na di nyuromɔskular jɔnkshɔn di prɔblɛm de, dat kin ɛp yu dɔktɔ fɔ plan yu tritmɛnt.

Aw dɛn kin trit `(CMS)`?

Naw, no mɛrɛsin nɔ de fɔ CMS. Bɔt sɔm tritmɛnt dɛn de we kin ɛp fɔ kɔntrol di sik ɛn mek layf izi.

Bɔku tɛm dɛn kin yuz mɛrɛsin fɔ mek di mɔsul dɛn kɔntinyu fɔ wok ɔ fɔ mek dɛn ebul fɔ wok fayn fayn wan. Yu dɔktɔ kin gi yu mɛrɛsin dɛn lɛk:

• Cholinergic agonist dεm (e.g. piridostigmin, amifampridin כ 3,4-diaminopyridin).
• Opin chanεl blכk dεm (e.g. fluoxetine כ quinidine).
• adrenergic agonist dεm (e.g. salbutamol כ εfεdrin).

Impɔtant: Nɔ ɛva yuz dɛn mɛrɛsin ya if yu nɔ gɛt dɔktɔ advays. Dɔn bak, nɔto ɔl mɛrɛsin de wok fɔ ɔl kayn `(CMS)`. So, i impɔtant fɔ no di rayt we fɔ no if i gɛt di sik ɛn fɔ gi advays to dɔktɔ.

Pan ɔl we yu kin du yu bɔdi we yu de du yu bɔdi, dat kin mek yu sik wɔs, yu dɔktɔ kin sɛn yu to dɔktɔ we de mɛn yu bɔdi.Fɛn ɔut ɛksɛsayz ɛn aktiviti dɛn we sef, saful, ɛn we fayn fɔ yu. Dɛn tin ya go ɛp fɔ mek di mɔsul dɛn nɔ stif ɛn fɔ mek yu gɛt gud wɛlbɔdi.

Sɔm pipul dɛn kin nid bak fɔ yuz tin dɛn we go ɛp dɛn fɔ du di wok dɛn we dɛn de du ɛvride. Fɔ ɛgzampul, we yu de yuz wilchia, dat kin ɛp fɔ mek yu nɔ gɛt aksidɛnt ɛn i kin mek i izi fɔ go waka.

Ɛni bad tin de we di mɛrɛsin kin du?

Lɛk ɛni mɛrɛsin, mɛrɛsin fɔ `(CMS)` kin mek sɔm sayd ɛfɛkt. Dɛn tin ya kin difrɛn difrɛn wan bay di kayn mɛrɛsin. Sɔm pan di kɔmɔn sayd ɛfɛkt dɛm na:

• Kramp na di bɛlɛ.
• Alɛji riakshɔn.
• Prɔblɛm fɔ blo.
• Rɔnbɛlɛ.
• Taya pasmak.
• Inkris saliva ɔ swet prodakshɔn.
• Vishɔn kin chenj.

Bifo yu bigin fɔ tek ɛni mɛrɛsin, tɔk to yu dɔktɔ bɔt di bad tin dɛn we kin apin to yu ɛn tɛl yu gud gud wan. Dɔn yu kin disayd fɔ du sɔntin we yu no bɔt yu wɛlbɔdi biznɛs.

Wetin na di lukin-grɔn fɔ pɔsin we gɛt `(CMS)`? (Prɔgnosis) .

Di sayn dɛm fɔ CMS kin difrɛn bad bad wan frɔm wan pɔrsin to ɔda pɔrsin. Sɔm pipul kin gɛt sɔm kayn sik wae nɔr kin afɛkt dɛn layf. Ɔda pipul dɛn kin gɛt siriɔs sayn dɛn we kin mek dɛn layf de pan denja, lɛk we i nɔ kin izi fɔ blo . Yu dɔktɔ kin gi yu di bɛst we fɔ si yu sik.

`(CMS)` de afɛkt layfspan?

CMS kin afɛkt di we aw yu de liv yu layf ɔ i nɔ kin afɛkt yu layf. If yu gɛt smɔl smɔl sayn dɛm, CMS nɔr kin gɛt bɛtɛ impak pan yu ɔl wɛl bɔdi. Bɔt if di sayn dɛn we de sho se yu gɛt di sik afɛkt di mɔsul dɛn we de kɔntrol aw yu de blo, i kin afɛkt di we aw yu go liv yu layf. Yu mɛdikal tim go ɛp yu fɔ kɔntrol yu sik dɛn fɔ mek yu nɔ gɛt prɔblɛm dɛn we go mek yu layf de pan denja.

Yu tink se dɛn kin stɔp `(CMS)`?

So fa, dɛn nɔ dɔn fɛn ɛni we fɔ mek di ``(CMS)`` sityueshɔn nɔ apin.

If yu de plan fɔ mek yu gɛt famili, yu kin go to dɔktɔ fɔ advays yu bɔt yu jɛnɛtiks fɔ no mɔ bɔt di prɔblɛm we kin apin we yu gɛt pikin we gɛt jɛnɛtik sik.

Dɔn bak, if yu gɛt CMS, tɛl yu dɔktɔ ɔltɛm bifo yu bigin ɛni nyu mɛrɛsin. Sɔm mɛrɛsin (fɔ ɛgzampul, sɔm antibayɔtik, at mɛrɛsin, ɛn saykayatrik mɛrɛsin) kin mek di CMS simptom dɛn wɔs. If dis apin, yu dɔktɔ kin tɛl yu fɔ tek ɔda mɛrɛsin dɛn.

Ustɛm a fɔ go to dɔktɔ?

If yu ɔ yu pikin de gɛt sayn dɛn we de sho se yu mɔsul dɛn wik (CMS) we yu de du bɔdi wok, go to dɔktɔ wantɛm wantɛm.

Fɔ yu pikinIf yu pikin nɔ ebul fɔ it ɔ i de te fɔ rich di divɛlɔpmɛnt maylston dɛm, tɛl yu pikin in dɔktɔ.

Sɔntin yu nɔ plan! If di pikin de gɛt prɔblɛm fɔ blo, ɔ if in skin, in lip, ɔ in finga nel dɛn dɔn blu ɛn blu-grey (`cyanosis`), kɔl 911 wantɛm wantɛm, ɔ kɛr dɛn go na di imejensi dipatmɛnt na di ɔspitul we de nia am.

Us kwɛstyɔn dɛn a fɔ aks mi dɔktɔ?

Afta dɛn dɔn no se yu ɔ yu pikin gɛt CMS, yu kin gɛt bɔku kwɛstyɔn dɛn. Nɔ fred fɔ aks yu dɔktɔ bɔt dɛn. Na sɔm ɛgzampul dɛn ya:

• Us kayn `(CMS)` mi/mi pikin gɛt?
• Us tritmɛnt dɛn yu kin advays?
• Wetin na di bad tin dɛn we dɛn tritmɛnt ya kin du?
• If mi pikin gɛt `(CMS)`, i kin tek pat pan spɔt ɔ ɔda tin dɛn?

Di sayn dɛm fɔ CMS nɔr kin bi di sem fɔ ɔlman. Sɔntɛnde, tin dɛn lɛk fɔ klaym stej ɛn fɔ du ɛksɛsayz kin tranga smɔl. Yu dɔktɔ kin tɛl yu bak se yu fɔ yuz tin dɛn we go ɛp yu lɛk wilchia fɔ ɛp yu fɔ mek yu nɔ fɔdɔm ɔ wund.

Pikin dεm we dεn no se dεn gεt dis kכndyushכn kin tek sכm tεm fכ masta imכtant divεlכpmεnt maylston dεm, spεshal mכtalman skil dεm lεk fכ waka, we yu kכmpεr am wit כda pikin dεm we dεn ej. If yu notis se dis de apin to yu pikin, tɔk to yu dɔktɔ.

Fɔ dɔn, tin dɛn fɔ mɛmba (Take-Home Message) .

Pan ɔl we Congenital Myasthenic Syndrome (CMS) na wan sik we nɔ kin apin so ɔltɛm we kin mek di mɔsul dɛn wik we dɛn bɔn am, if dɛn no di sik ɛn mɛn am fayn fayn wan, bɔku pipul dɛn kin liv nɔmal layf.

• Yu fɔ no bɔt di sayn dɛm: No mɔ bɔt tin dɛm lɛk we pikin dɛn nɔ de gro fayn ɛn we dɛn taya pasmak we dɛn de tray tranga wan.
• Go to dɔktɔ fɔ advays: If yu gɛt dawt, i rili impɔtant fɔ go to dɔktɔ fɔ mek dɛn no di pɔsin fayn fayn wan.
• Fɔ fala yu tritmɛnt ɛksaktɔli: Fɔ fala yu dɔktɔ in instrɔkshɔn ɛn mɛrɛsin dɛn ɛksaktɔli. If dɛn kin rɛkɔmɛnd tin dɛn lɛk fyzikal tritmɛnt, nɔ skip dɛn.
• Stay positive: Fɔ liv wit dis sik kin tranga, bɔt nɔr de yu wan. Dɔktɔ dɛn, dɔktɔ dɛn de we de mɛn pipul dɛn, ɛn pipul dɛn we yu lɛk we go ɛp yu.

Yu mɛdikal tim na di bɛst ples fɔ ɛp yu fɔ ɔndastand yu sik ɛn us tritmɛnt dɛn we fayn fɔ yu. So, nɔ fred fɔ aks yu kwɛstyɔn dɛn ɛn tɛl ɔda pipul dɛn bɔt wetin de mɔna yu.

` Congenital Myasthenic Syndrome, CMS, mכsul wik, jεnεtik sik, nyuromכskular, pikin sik, bכn difεkt