Cia peb kawm txog cov leeg nqaij tsis muaj zog txij thaum yug los (Congenital Myasthenic Syndrome - CMS)

Koj puas tau pom tias ib tug me nyuam yaus nkees sai sai, txawm tias thaum ua si lossis ua tej yam me me, thiab xav tias lawv tsis muaj zog? Koj puas muaj tej lub sij hawm xav tias nws nyuaj rau noj mov, tham lus, lossis txawm tias ntsais muag? Yog tias koj muaj cov tsos mob zoo li no, nws yuav yog vim cov leeg nqaij tsis muaj zog uas peb yuav tham txog hnub no, uas hu ua '(Congenital Myasthenic Syndrome)' lossis '(CMS)' luv. Tsis txhob txhawj, cia peb tham txog qhov no kom meej, yooj yim heev.

Kab mob Congenital Myasthenic Syndrome - CMS yog dab tsi?

Hais yooj yim xwb, '(CMS)' yog ib pawg mob uas muaj thaum yug los. Qhov tseem ceeb uas tshwm sim hauv qhov no yog tias cov leeg nqaij qaug zog thaum lub sijhawm ua haujlwm lub cev, uas yog, thaum ua ib yam dab tsi. Lo lus "congenital" txhais tau tias "yug los ntawm yug los."

Xav txog nws, thaum peb feem ntau ua ib qho kev tawm dag zog zoo li ntawd, nws yog ib qho ib txwm muaj uas yuav xav tias nkees me ntsis. Tab sis rau ib tus neeg uas muaj '(CMS)', txawm tias ua ib yam dab tsi me me, xws li taug kev lossis ua si, cov leeg nqaij yuav tsis muaj zog thiab nws nyuaj rau txuas ntxiv ua qhov kev ua ub no ntawd. Txawm li cas los xij, thaum koj tsum ua qhov kev ua ub no ntawd thiab so ib pliag, nws yuav zoo dua me ntsis dua.

Qhov mob no feem ntau cuam tshuam rau cov leeg nqaij ntawm lub ntsej muag . Ntawd yog, cov leeg nqaij uas peb siv los zom, nqos, thiab ntsais muag. Nws kuj tseem tuaj yeem cuam tshuam rau lwm cov leeg nqaij (peb hu cov no "cov leeg nqaij pob txha") uas pab peb txav mus los thiab taug kev.

Cov tsos mob yuav tsis hnyav heev rau qee tus neeg, thiab hnyav heev rau lwm tus. Thaum mob hnyav, nws tuaj yeem ua rau tuag taus, tshwj xeeb tshaj yog tias nws cuam tshuam rau cov leeg nqaij uas pab koj ua pa.

Qhov twg cov lus ntawm cov hlab ntsha thiab cov leeg tau tsis meej pem!

Peb cov leeg nqaij ua haujlwm raws li cov lus los ntawm cov hlab ntsha. Ib yam li qhov hloov pauv yog qhov xav tau los qhib lub teeb, cov leeg nqaij xav tau cov lus los ntawm cov hlab ntsha kom ua haujlwm tau. Muaj ib qho chaw tshwj xeeb uas cov hlwb hlab ntsha thiab cov hlwb nqaij no sib ntsib thiab sib txuas. Cov kws kho mob hu qhov no ua "kev sib txuas ntawm cov hlab ntsha thiab cov leeg nqaij". Xav txog nws zoo li tus choj me me uas xa cov lus.

Qhov uas tshwm sim rau ib tus neeg uas muaj '(CMS)' yog tias muaj teeb meem nrog tus choj ntawd, yog li cov lus los ntawm cov hlab ntsha mus rau cov leeg nqaij tsis mus zoo. Qhov no yog vim li cas cov leeg nqaij tsis ua haujlwm zoo thiab qaug zog.

Puas muaj hom '(CMS)'?

Yog, muaj ntau hom mob "(CMS)" no. Cov kws kho mob faib cov no raws li qhov teeb meem nyob ntawm "neuromuscular junction" uas kuv tau hais ua ntej, uas yog, qhov chaw uas cov hlab ntsha thiab cov leeg sib ntsib.

Muaj peb hom tseem ceeb:

1. Presynaptic myasthenic syndrome uas muaj txij thaum yug los: Qhov teeb meem nyob rau hauv lub hlwb uas xa cov lus.

2. Synaptic congenital myasthenic syndrome tshwm sim hauv qhov chaw nruab nrab ntawm cov hlab ntsha thiab cov leeg nqaij:Qhov teeb meem ntawm no yog qhov sib txawv zoo li choj.

3. Postsynaptic congenital myasthenic syndrome: Qhov teeb meem hauv qhov no yog nyob rau hauv cov leeg nqaij uas tau txais cov lus.

Tsis tas li ntawd xwb, hauv txhua hom no, muaj lwm hom me dua raws li qhov tsis zoo ntawm cov pob qij txha, xws li "basal lamina" lossis "acetylcholine receptor". Cov no yog cov lus kho mob nyuaj me ntsis, tab sis ntawm no yog lub tswv yim ntxhib.

Qhov teeb meem '(CMS)' no feem ntau tshwm sim li cas?

CMS yog ib qho mob tsis tshua muaj. Tsis muaj ntaub ntawv ntau txog nws tshwm sim ntau npaum li cas. Ib txoj kev tshawb fawb hauv UK pom tias nws cuam tshuam rau kwv yees li 9 ntawm txhua lab tus menyuam yaus hnub nyoog qis dua 18 xyoo. Qhov ntawd yog tus lej tsawg heev.

Qhov txawv ntawm "(CMS)" thiab "(Myasthenia Gravis" yog dab tsi?

Tej zaum koj twb tau hnov ​​txog tus kab mob "Myasthenia Gravis." Ob hom kab mob no ua rau cov leeg tsis muaj zog vim muaj teeb meem nrog txoj kev uas cov hlab ntsha xa cov lus mus rau cov leeg. Tab sis muaj qhov sib txawv loj ntawm ob qho no.

• (Congenital Myasthenic Syndrome - CMS): Qhov no yog ib yam kab mob uas muaj los ntawm noob caj noob ces. Yog li ntawd, nws yog los ntawm kev hloov pauv noob caj noob ces ('mutation') uas muaj thaum yug los.
• Myasthenia Gravis: Qhov no yog ib yam mob uas tiv thaiv kab mob tsis pub nws tus kheej rov qab los . Qhov no txhais tau hais tias peb lub cev tiv thaiv kab mob tsis raug cai tawm tsam qhov chaw sib txuas ntawm cov leeg nqaij thiab cov hlab ntsha.

Hais yooj yim xwb, CMS yog ib qho "teeb ​​meem nrog daim blueprint" (hauv cov noob caj noob ces). Myasthenia Gravis yog ib qho "kev nkag siab yuam kev" ntawm lub cev tiv thaiv kab mob.

Cov tsos mob ntawm ib tus neeg uas muaj '(CMS)' yog dab tsi?

Cov tsos mob yuav txawv me ntsis nyob ntawm hom CMS, tab sis cov tsos mob feem ntau suav nrog:

• Thaum koj lub cev qaug zog, cov leeg nqaij yuav ua haujlwm ntau dhau thiab tsis muaj zog. Txawm tias koj ua haujlwm me ntsis los koj tseem qaug zog.
• Nyuaj tswj lossis poob kev tswj cov leeg nqaij .
• Qhov muag poob qis (tseem hu ua ptosis).
• Pom ob zaug .
• Lub qhov muag zoo li raug rub mus rau ib sab (lub qhov muag tub nkeeg).
• Nyuaj hais lus (lub suab yuav hloov pauv, tej zaum yuav qis qis).
• Nyuaj nqos zaub mov.

Yog tias ib tug me nyuam muaj ib lossis ntau yam ntawm cov tsos mob no, nws yog ib qho tseem ceeb heev uas yuav tsum nrhiav kev pab kho mob.

Cov tsos mob ntawm '(CMS)' feem ntau pib thaum muaj hnub nyoog li cas?

Cov tsos mob ntawm CMS feem ntau pib thaum yau, thaum lub sijhawm menyuam yaus lossis thaum yau . Yog tias koj tus menyuam qeeb qeeb los txhim kho cov txuj ci kev txav mus los (piv txwv li, lawv qeeb qeeb rau kev nkag, sawv, lossis taug kev), qhov no yuav yog ib qho cim ntawm tus mob.

Txawm li cas los xij, cov tsos mob ntawm qee hom '(CMS)'Nws kuj tseem tuaj yeem tshwm sim me ntsis tom qab, piv txwv li, thaum hluas lossis tom qab ntawd thaum laus.

Dab tsi yog cov ua rau muaj `(CMS)`?

Zoo li kuv tau hais ua ntej lawm, qhov ua rau muaj '(CMS)' yog kev hloov pauv caj ces, uas yog, 'kev hloov pauv'. Txhua yam hauv peb lub cev yog tswj los ntawm cov noob caj ces. Yog li, yog tias muaj qhov tsis zoo hauv cov noob caj ces uas qhia kev tsim cov protein uas pab txhawb nqa cov lus los ntawm cov hlab ntsha mus rau cov leeg, qhov mob '(CMS)' no tshwm sim.

Muaj ntau yam noob caj noob ces uas koom nrog qhov no. Nov yog ob peb yam piv txwv:

• `(CHRNE)`
• `(RAPSN)`
• `(SIB THAM)`
• `(COLQ)`
• `(DOK7)`

Cov noob caj noob ces no yog cov uas qhia cov hlwb kom tsim cov protein uas xav tau rau kev sib pauv lus ntawm qhov chaw sib txuas ntawm cov leeg nqaij. Yog tias muaj '(kev hloov pauv)' hauv cov noob caj noob ces no, uas yog, kev hloov pauv, cov hlwb tsis tau txais cov lus qhia kom raug. Tom qab ntawd cov lus hla tus choj ntawd yuav raug cuam tshuam. Qhov ntawd yog qhov ua rau muaj cov tsos mob ntawm '(CMS)'.

Puas yog ib yam dab tsi uas los ntawm tiam neeg `(CMS)`?

Yog, `(CMS)` yog ib qho mob uas tuaj yeem tau txais los ntawm ib tiam dhau ib tiam.

Feem ntau nws yog los ntawm noob caj noob ces (autosomal recessive). Qhov no txhais tau tias yog ib tug me nyuam muaj tus mob no, ob leeg niam txiv yuav tsum tau txais cov noob caj noob ces uas tsis zoo no. Tej zaum niam txiv yuav tsis muaj cov tsos mob, tab sis lawv yog cov neeg nqa cov noob caj noob ces no.

Qee hom CMS kuj tuaj yeem tau txais los ntawm tus qauv autosomal dominant . Yog li ntawd, tus menyuam tuaj yeem muaj tus mob txawm tias lawv tau txais cov noob caj noob ces tsis zoo los ntawm ib tus niam txiv xwb .

Tsis tas li ntawd xwb, qee zaum ib tus neeg tuaj yeem tsim CMS vim yog kev hloov pauv random , txawm tias tsis muaj leej twg hauv tsev neeg tau muaj tus mob no ua ntej los xij.

Leej twg muaj feem yuav mob "(CMS)" ntau dua?

Txhua tus neeg yeej muaj tau tus mob CMS. Txawm li cas los xij, yog tias ib tug neeg hauv koj tsev neeg muaj tus mob no (keeb kwm tsev neeg), koj kuj muaj feem yuav mob tau tus mob no ntau dua.

Cov teeb meem uas ua rau muaj `(CMS)` yog dab tsi?

Tus mob '(CMS)' tuaj yeem ua rau muaj ntau yam teeb meem. Qee qhov ntawm lawv yog:

• Nyuaj siab nqus lossis noj mov (tshwj xeeb tshaj yog rau cov menyuam mos).
• Cov leeg nqaij tawv .
• Kev ncua sijhawm dhau cov theem tseem ceeb ntawm kev loj hlob (tshwj xeeb tshaj yog hauv kev txawj txav mus los).
• Ua rau tsis taug kev tau.
• Ua pa tsis taus (apnea) tsis tu ncua .
• Kev qaug dab peg ( zoo li qaug dab peg )
• Kev tsis taus ntawm lub hlwb - Qhov no tsis tshwm sim rau txhua tus, tsuas yog rau qee hom xwb.
• Cov kab mob ntawm cov hlab ntsha (neuropathy).
• Cov teeb meem metabolic .

Tsis yog txhua yam teeb meem no tshwm sim rau txhua tus. Nws nyob ntawm hom CMS, nws qhov hnyav, thiab kev kho mob zoo npaum li cas.

Yuav ua li cas thiaj paub qhov xwm txheej ntawm `(CMS)`?

Tus kws kho mob yuav kuaj mob CMS los ntawm kev kuaj koj kom meej thiab ua cov kev kuaj mob ntawm koj lub paj hlwb. Nws yuav nug txog koj cov tsos mob thiab sau tag nrho cov keeb kwm kev kho mob (xws li seb puas muaj leej twg hauv koj tsev neeg tau muaj tus mob no).

Yog tias koj xav tias koj muaj CMS, koj tus kws kho mob yuav hais kom koj ua qee yam kev tawm dag zog me me nyob rau ntawm nws xub ntiag (piv txwv li, nce ntaiv) kom pom tias koj lub cev teb li cas.

Tsis tas li ntawd xwb, tej zaum yuav muaj qee qhov kev kuaj mob kom paub tseeb tias tsis muaj lwm yam mob uas yuav ua rau muaj cov tsos mob zoo sib xws:

• Kev kuaj ntshav .
• Kev tshawb nrhiav txog kev xa xov ntawm cov hlab ntsha - Ib qho kev xeem uas ntsuas qhov ceev uas cov lus xa mus los ntawm cov hlab ntsha.
• Electromyography (EMG) - Ib qho kev kuaj uas ntsuas kev ua haujlwm hluav taws xob ntawm cov leeg.

Kev kuaj noob caj noob ces rau `(CMS`)

Kev kuaj noob caj noob ces yog ib qho kev kuaj tseem ceeb heev rau kev kuaj mob CMS. Nws pab nrhiav seb qhov kev hloov pauv noob caj noob ces twg ua rau koj cov tsos mob. Koj tus kws kho mob yuav coj ib qho qauv me me ntawm koj cov ntshav thiab kuaj DNA hauv nws. Kev paub tias koj muaj hom CMS twg thiab qhov teeb meem nyob qhov twg hauv qhov kev sib tshuam ntawm cov leeg nqaij tuaj yeem pab koj tus kws kho mob npaj koj txoj kev kho mob.

Yuav kho tus cwj pwm ntawm '(CMS)' li cas?

Tam sim no tsis muaj kev kho mob rau CMS. Txawm li cas los xij, muaj kev kho mob uas tuaj yeem pab tswj cov tsos mob thiab ua rau lub neej yooj yim dua.

Cov tshuaj feem ntau siv los tswj lossis txhim kho kev ua haujlwm ntawm cov leeg nqaij. Koj tus kws kho mob yuav sau ntawv kom noj cov tshuaj xws li:

• Cov tshuaj cholinergic agonists (piv txwv li pyridostigmine, amifampridine lossis 3,4-diaminopyridine).
• Cov tshuaj thaiv qhov qhib (xws li fluoxetine lossis quinidine).
• Cov tshuaj adrenergic agonists (piv txwv li salbutamol lossis ephedrine).

Tseem Ceeb: Tsis txhob siv cov tshuaj no yam tsis tau kev qhia los ntawm kws kho mob. Tsis tas li ntawd xwb, tsis yog txhua yam tshuaj ua haujlwm rau txhua hom '(CMS)'. Yog li ntawd, kev kuaj mob kom zoo thiab kev qhia los ntawm kws kho mob yog qhov tseem ceeb heev.

Txawm hais tias kev tawm dag zog lub cev yuav ua rau cov tsos mob hnyav zuj zus, koj tus kws kho mob yuav xa koj mus rau tus kws kho lub cev.Nrhiav seb cov kev tawm dag zog thiab kev ua ub no twg muaj kev nyab xeeb, tsis hnyav, thiab haum rau koj. Cov no yuav pab tiv thaiv kom cov leeg nqaij tsis nruj thiab ua kom muaj kev noj qab haus huv zoo.

Tej zaum yuav muaj ib txhia neeg uas yuav tsum tau siv cov khoom pab kom ua tau tej hauj lwm niaj hnub. Piv txwv li, kev siv lub rooj zaum muaj log yuav pab tiv thaiv kom tsis txhob muaj xwm txheej thiab ua kom yooj yim dua rau kev mus los.

Puas muaj tej yam tshwm sim ntawm cov tshuaj no?

Ib yam li lwm yam tshuaj, cov tshuaj rau '(CMS)' tuaj yeem ua rau muaj qee qhov kev mob tshwm sim. Cov no sib txawv nyob ntawm hom tshuaj. Qee qhov kev mob tshwm sim feem ntau suav nrog:

• Mob plab.
• Kev ua xua.
• Teeb meem ua pa.
• Mob raws plab.
• Qaug zog dhau.
• Ntau cov qaub ncaug lossis hws ntau ntxiv.
• Kev pom kev hloov pauv.

Ua ntej koj pib noj tshuaj twg los tau, nrog koj tus kws kho mob tham txog tej yam tshwm sim tsis zoo thiab paub txog tej yam zoo ua ntej. Ces koj mam li txiav txim siab tau zoo txog koj txoj kev noj qab haus huv.

Yuav ua li cas rau ib tus neeg uas muaj '(CMS)'? (Kev kwv yees)

Cov tsos mob ntawm CMS sib txawv ntawm ib tus neeg mus rau ib tus neeg. Qee tus neeg yuav muaj cov tsos mob me me uas tsis cuam tshuam rau lawv lub neej. Lwm tus yuav muaj cov tsos mob hnyav uas tuaj yeem ua rau tuag taus, xws li ua pa nyuaj . Koj tus kws kho mob tuaj yeem muab qhov zoo tshaj plaws rau koj tus mob.

Puas yog '(CMS)' cuam tshuam rau lub neej?

CMS tej zaum yuav cuam tshuam lossis tsis cuam tshuam rau koj lub neej ntev. Yog tias koj muaj cov tsos mob me me, CMS tej zaum yuav tsis muaj kev cuam tshuam loj rau koj txoj kev noj qab haus huv tag nrho. Txawm li cas los xij, yog tias cov tsos mob cuam tshuam rau cov leeg nqaij uas tswj koj txoj kev ua pa, nws tuaj yeem cuam tshuam rau koj lub neej ntev. Koj pab neeg kho mob yuav pab koj tswj koj cov tsos mob kom tiv thaiv cov teeb meem txaus ntshai rau lub neej.

Puas tiv thaiv tau '(CMS)'?

Txog tam sim no, tsis tau pom muaj txoj hauv kev los tiv thaiv qhov teeb meem "(CMS)" no.

Yog tias koj tab tom npaj yuav pib tsev neeg, koj tuaj yeem mus ntsib kws kho mob kom tau txais kev qhia txog caj ces kom paub ntau ntxiv txog qhov kev pheej hmoo ntawm kev muaj menyuam uas muaj kab mob caj ces.

Thiab, yog tias koj muaj CMS, ib txwm qhia rau koj tus kws kho mob ua ntej pib noj tshuaj tshiab. Qee cov tshuaj (piv txwv li, qee cov tshuaj tua kab mob, tshuaj kho mob plawv, thiab tshuaj kho mob puas siab puas ntsws) tuaj yeem ua rau cov tsos mob CMS hnyav dua. Yog tias qhov no tshwm sim, koj tus kws kho mob yuav pom zoo lwm cov tshuaj.

Kuv yuav tsum mus ntsib kws kho mob thaum twg?

Yog tias koj lossis koj tus menyuam muaj cov tsos mob ntawm cov leeg tsis muaj zog (CMS) thaum lub sijhawm ua si, mus ntsib kws kho mob tam sim ntawd.

Rau koj tus menyuamYog koj tus menyuam noj tsis tau lossis qeeb hauv kev loj hlob, qhia rau koj tus menyuam tus kws kho mob.

Xwm Ceev! Yog tias tus me nyuam ua pa nyuaj, lossis yog tias daim tawv nqaij, daim di ncauj, lossis cov rau tes daj ntseg thiab xiav-grey ('cyanosis'), hu rau 911 tam sim ntawd, lossis coj lawv mus rau chav kho mob ceev ntawm tsev kho mob ze tshaj plaws.

Kuv yuav tsum nug kuv tus kws kho mob li cas?

Tom qab koj lossis koj tus menyuam raug kuaj pom tias muaj CMS, tej zaum koj yuav muaj ntau cov lus nug. Tsis txhob ntshai nug koj tus kws kho mob txog lawv. Nov yog qee cov piv txwv:

• Kuv/kuv tus menyuam muaj hom '(CMS)' twg?
• Koj pom zoo kom muaj kev kho mob dab tsi?
• Cov kev kho mob no muaj cov kev mob tshwm sim li cas?
• Yog tias kuv tus menyuam muaj '(CMS)', nws puas tuaj yeem koom nrog kev ua si lossis lwm yam kev ua ub no?

Cov tsos mob ntawm CMS tsis zoo ib yam rau txhua tus. Qee zaum, tej yam xws li nce ntaiv thiab kev tawm dag zog tuaj yeem nyuaj me ntsis. Koj tus kws kho mob kuj tseem yuav pom zoo kom siv cov khoom siv pab, xws li lub rooj zaum muaj log, los pab tiv thaiv kev ntog lossis raug mob.

Cov menyuam yaus uas kuaj pom tias muaj tus mob no yuav siv sijhawm ntev me ntsis los kawm txog cov ntsiab lus tseem ceeb ntawm kev loj hlob, tshwj xeeb yog kev txawj txav xws li kev taug kev, piv rau lwm tus menyuam hnub nyoog li lawv. Yog tias koj pom qhov no tshwm sim rau koj tus menyuam, nrog koj tus kws kho mob tham.

Thaum kawg, tej yam yuav tsum nco ntsoov (Cov Lus Coj Mus Tsev)

Txawm hais tias Congenital Myasthenic Syndrome (CMS) yog ib yam mob tsis tshua muaj uas ua rau cov leeg tsis muaj zog uas muaj thaum yug los, yog tias kuaj mob thiab tswj tau zoo, feem ntau cov neeg tuaj yeem ua neej nyob li qub.

• Ceev faj txog cov tsos mob: Ceev faj txog tej yam xws li kev loj hlob qeeb ntawm cov menyuam yaus thiab qaug zog ntau dhau thaum lub sijhawm ua haujlwm tawm dag zog.
• Nrhiav kev pab tswv yim los ntawm kws kho mob: Yog tias koj tsis paub meej tias koj muaj mob dab tsi, koj yuav tsum mus ntsib kws kho mob kom paub tseeb tias koj muaj mob dab tsi.
• Ua raws li koj txoj kev kho mob kom raug: Ua raws li koj tus kws kho mob cov lus qhia thiab cov tshuaj kom raug. Yog tias lawv pom zoo rau tej yam xws li kev kho lub cev, tsis txhob hla lawv.
• Nyob twj ywm zoo: Kev nyob nrog tus mob no tuaj yeem nyuaj, tab sis koj tsis yog tib leeg xwb. Muaj cov kws kho mob, cov kws kho mob hlwb, thiab cov neeg koj hlub uas tuaj yeem pab koj.

Koj pab neeg kho mob yog qhov chaw zoo tshaj plaws los pab koj nkag siab txog koj tus mob thiab kev kho mob twg yog qhov zoo rau koj. Yog li ntawd, tsis txhob ntshai nug koj cov lus nug thiab qhia koj qhov kev txhawj xeeb.

` Kab mob Congenital Myasthenic Syndrome, CMS, cov leeg tsis muaj zog, cov kab mob caj ces, cov leeg ntawm lub paj hlwb, cov kab mob menyuam yaus, cov teeb meem yug los tsis zoo