Yuav Kho Tau Dab Tsi Rau Cov Kev Hloov Pob Txha
Zoo Siab
- Ntau txoj kev zov
- Cov hom phiaj kho
- Lub ntiaj teb
- Zolgensma
- Kev sim tshuaj
- Txhawb tshuaj kho
- Kev ua pa huv
- Kev noj zaub mov zoo thiab lub plab zom mov
- Pob txha thiab mob noj qab haus huv
- Kev txhawb zog siab
- Cov nqa mus
Cov leeg mob hlwb pob txha caj qaum (SMA) yog ib qho kev mob tsis tshua muaj tshwm sim uas ua rau cov leeg tsis muaj zog thiab ua rau muaj kev cia siab. Feem ntau ntawm SMA kuaj pom rau cov menyuam yaus lossis menyuam yaus.
SMA tuaj yeem ua rau kev sib koom ua ke, yoo mov nyuaj, thiab muaj feem ua rau tuag taus ua teeb meem rau kev ua pa. Cov menyuam yaus thiab cov neeg laus nrog SMA yuav muaj teeb meem zaum, sawv, taug kev, lossis ua tiav lwm yam yam tsis muaj kev pab.
Tam sim no tsis muaj txoj kev kho kom zoo rau SMA. Txawm li cas los xij, kev kho hom phiaj tshiab tuaj yeem pab txhim kho qhov kev xam pom rau cov menyuam yaus thiab cov laus nrog SMA. Txhawb nqa kev kho mob kuj tseem muaj los pab tswj cov tsos mob thiab cov teeb meem uas yuav muaj.
Siv sijhawm me ntsis kom paub ntau ntxiv txog cov kev xaiv kho mob rau SMA.
Ntau txoj kev zov
SMA tuaj yeem cuam tshuam koj tus menyuam lub cev ntawm ntau txoj kev sib txawv. Yuav kom tswj hwm lawv cov kev xav tau sib txawv, nws yog qhov tseem ceeb los muab tso ua ke pab ntau tus kws kho mob paub ntau yam.
Kev tshuaj xyuas tas li yuav ua rau koj pab neeg saib xyuas kev noj qab haus huv tuaj tshuaj xyuas lawv tus mob thiab ntsuas seb lawv qhov kev npaj khomob ua haujlwm tau zoo npaum li cas.
Tej zaum lawv yuav pom zoo kom hloov lub hom phiaj kho koj tus menyuam yog tias koj tus menyuam muaj cov tsos mob tshiab lossis qhov tshwm sim tsis zoo. Lawv kuj tuaj yeem pom zoo hloov pauv yog tias muaj kev kho mob tshiab.
Cov hom phiaj kho
Txhawm rau kho qhov pib ntawm SMA, Lub Chaw Tswj Xyuas Khoom Noj thiab Tshuaj (FDA) tsis ntev los no tau pom zoo ob hom kev kho mob:
- nusinersen (Spinraza), uas tau pom zoo kho SMA rau menyuam yaus thiab neeg laus
- onasemnogene abeparvovec-xioi (Zolgensma), uas tau pom zoo kho SMA rau cov menyuam yaus hnub nyoog qis dua 2 xyoos
Cov kev kho no yog yam tshiab, yog li cov kws paub tseem tsis tau paub txog qhov tshwm sim ntev li cas ntawm kev siv cov kev kho no tuaj yeem tshwm sim. Cov kev tshawb fawb qhia tias lawv yuav txwv lossis qeeb qeeb ntawm kev loj hlob ntawm SMA.
Lub ntiaj teb
Spinraza yog ib hom tshuaj uas tau tsim los txhawb kev tsim cov protein tseem ceeb, lub npe hu ua sensor motor neuron (SMN) protein. Cov neeg uas SMA tsis tsim cov protein no txaus rau lawv tus kheej.
Kev pom zoo rau kev kho mob raws li kev tshawb fawb soj ntsuam qhia tias cov menyuam mos thiab menyuam yaus uas tau txais kev kho mob tuaj yeem hloov kho lub cev muaj zog, xws li nkag, zaum, dov, sawv, lossis taug kev.
Yog tias koj tus menyuam tus kws kho mob tau sau ntawv rau Spinraza, lawv yuav txhaj tshuaj rau hauv cov kua dej uas nyob ib sab koj tus menyuam tus txha caj qaum. Lawv yuav pib muab plaub zaug tshuaj rau thawj ob lub hlis ntawm kev kho mob. Tom qab ntawd, lawv yuav tswj hwm ib koob ib zaug txhua 4 lub hlis.
Tej zaum cov kev mob tshwm sim rau cov tshuaj muaj xws li:
- nce kev pheej hmoo ntawm kab mob ua pa
- nce kev pheej hmoo los ntshav teeb meem
- raum puas tsuaj
- cem quav
- ntuav
- mob taub hau
- rov qab mob
- ua npaws
Txawm hais tias cov kev mob tshwm sim tuaj yeem tsim nyog, nco ntsoov tias koj tus menyuam tus kws kho mob tsuas yog pom zoo kom noj tshuaj yog tias lawv ntseeg tias cov txiaj ntsig zoo tshaj qhov muaj feem tshwm sim.
Zolgensma
Zolgensma yog ib hom kev kho noob, hauv kev hloov kho tus kab mob no yog siv los xa cov haujlwm SMN1 noob rau cov leeg hlwb. Cov neeg muaj SMA tsis muaj cov gene zoo no.
Kev pom zoo rau kev noj tshuaj pom zoo los ntawm kev tshawb fawb hauv kev kho mob uas muaj feem cuam rau cov menyuam mos liab uas muaj SMA tsawg dua 2 xyoos. Cov neeg koom nrog kev sim tau pom tias muaj kev txhim kho tseem ceeb hauv kev txhim kho, xws li kev tswj lub taub hau thiab lub peev xwm los zaum uas tsis muaj kev txhawb nqa, piv rau qhov uas yuav cia siab rau cov neeg mob uas tsis tau txais kev kho mob.
Zolgensma yog ib txoj kev kho mob ib zaug uas tau tswj los ntawm kev tso ntshav ntshav (IV).
Cov teeb meem tshwm sim muaj xws li:
- ntuav
- nce siab daim siab enzymes
- mob siab kom raug
- nce cov cim ntawm kev mob plawv hauv lub siab
Yog tias koj tus menyuam tus kws kho mob tau sau ntawv rau Zolgensma, lawv yuav tsum kuaj kev tshuaj xyuas koj tus menyuam txoj kev mob siab ua ntej, lub sijhawm thiab tom qab kho tas. Lawv tseem tuaj yeem muab cov ntaub ntawv ntau ntxiv ntsig txog cov txiaj ntsig thiab kev pheej hmoo ntawm kev kho mob.
Kev sim tshuaj
Cov kws tshawb fawb tseem kawm ntau lwm cov kev kho mob rau SMA, suav nrog:
- risdiplam
- branaplam
- reldesemtiv
- SRK-015
FDA tseem tsis tau pom zoo cov kev sim tshuaj no. Txawm li cas los xij, nws muaj peev xwm hais tias lub koom haum yuav pom zoo ib lossis ntau ntawm cov kev kho mob no yav tom ntej.
Yog tias koj xav paub ntau ntxiv txog kev sim, tham nrog koj tus menyuam tus kws kho mob txog kev sim tshuaj. Koj pawg neeg saib xyuas kev noj qab haus huv tuaj yeem muab cov ntaub ntawv qhia ntxiv rau koj seb koj tus menyuam puas tuaj yeem koom nrog kev sim tshuaj, thiab cov txiaj ntsig zoo thiab txaus ntshai.
Txhawb tshuaj kho
Ntxiv rau kev kho mob tshwj xeeb los kho SMA, koj tus menyuam tus kws kho mob yuav qhia lwm txoj kev kho mob kom pab tswj cov tsos mob lossis cov teeb meem uas yuav muaj.
Kev ua pa huv
Cov menyuam yaus uas muaj SMA nyiam ua rau lub ntsws ua pa tsis muaj zog, uas ua rau ua pa nyuaj. Ntau tus kuj tseem muaj tus mob deformities, uas tuaj yeem ua rau ua pa nyuaj.
Yog tias koj tus me nyuam muaj teeb meem ua pa nyuaj los yog hnoos, nws yuav ua rau lawv muaj feem ua mob ntsws dej. Nov yog ib qho muaj feem ua rau tuag tau mob ntsws.
Txhawm rau pab tshem koj cov menyuam cov hlab pa thiab txhawb kev ua pa, lawv pawg kws kho mob yuav sau ntawv:
- Kev tuav lub hauv siab kev kho mob. Tus neeg muab kev pab kho mob tau npuav koj tus menyuam lub hauv siab thiab siv lwm cov kev paub los xoob thiab tshem tawm cov hnoos qeev ntawm lawv cov hlab pa.
- Oronasal txoj kev nqus. Lub raj tshwj xeeb lossis cov koob txhaj tshuaj tau muab tso rau hauv koj tus menyuam lub qhov ntswg lossis qhov ncauj thiab siv los tshem cov hnoos qeev tawm ntawm lawv txoj hlab pa.
- Neeg kho tshuab / ntxig tawm. Koj tus menyuam tau txais lub tshuab tshwj xeeb uas sim ua ib qhov hnoos kom tshem tawm cov hnoos qeev los ntawm lawv cov hlab pa.
- Lub tshuab cua tshuab tawm. Ib daim npog qhov ncauj lossis txoj hlab qe ntshav (tracheostomy tube) yog siv los txuas koj tus menyuam nrog lub tshuab tshwj xeeb uas pab ua rau ua pa.
Nws tseem ceeb heev uas koj yuav tsum ua raws li koj tus menyuam li kev pom zoo teem caij txhaj tshuaj tiv thaiv txhawm rau txo qhov kev pheej hmoo kis mob, suav nrog kev ua npaws thiab mob ntsws.
Kev noj zaub mov zoo thiab lub plab zom mov
SMA tuaj yeem ua rau nws nyuaj rau menyuam yaus nqus thiab nqos, uas tuaj yeem txwv lawv qhov muaj peev xwm pub khoom noj. Qhov no tuaj yeem ua rau txoj kev loj hlob tsis zoo.
Cov menyuam yaus thiab cov neeg laus uas muaj SMA kuj tseem tuaj yeem ntsib teeb meem kev zom zaub mov, xws li mob plab, ua kom lub plab zom mov, lossis lub plab ua rau lub plab khiav tawm.
Yuav kom txhawb tau koj tus menyuam txoj kev noj zaub mov zoo thiab mob plab, lawv pawg kws saib xyuas kev noj qab haus huv yuav pom zoo:
- hloov rau lawv cov zaub mov noj
- muaj vitamin lossis ntxhia pab ntxiv
- enteric pub mis, nyob rau hauv uas lub raj xa khoom noj yog siv los xa cov kua thiab cov khoom noj rau lawv lub plab
- tshuaj kho mob cem quav, plab zom mov tsis haum, lossis lwm yam teeb meem plab zom mov
Cov menyuam yaus thiab menyuam yaus uas muaj SMA muaj qhov pheej hmoo tias lub cev tsis rog. Ntawm qhov tod tes, cov menyuam loj dua thiab cov laus nrog SMA yog qhov muaj pheej hmoo ua rog dhau los lossis rog dhau vim yog qhov kev qoj ib ce tsawg.
Yog tias koj tus menyuam rog dhau, lawv pawg kws saib xyuas kev noj qab haus huv yuav pom zoo hloov pauv rau lawv kev noj zaub mov kom zoo lossis kev tawm dag zog.
Pob txha thiab mob noj qab haus huv
Cov menyuam yaus thiab cov laus nrog SMA muaj cov leeg tsis muaj zog. Qhov no tuaj yeem txwv lawv qhov kev txav mus thiab ua rau lawv muaj kev pheej hmoo ntawm kev sib koom ua ke, xws li:
- ib hom kev sib koom ua ke uas hu ua kev cog lus
- txawv txav txawv ntawm tus nqaj qaum, paub hu ua scoliosis
- distortion ntawm tav xov
- ntsag dislocation
- pob txha lov
Txhawm rau pab txhawb thiab ncab lawv cov leeg thiab pob qij txha, koj pawg neeg saib xyuas kev noj qab haus huv tuaj yeem sau:
- kev tawm dag zog lub cev
- splints, kev zawm hniav, lossis lwm yam orthoses
- lwm cov kev txhawb nqa postural
Yog tias koj tus menyuam muaj mob pob qij pob txha loj lossis pob txha lov, lawv yuav tau phais.
Thaum koj tus menyuam loj dua, lawv yuav xav tau lub rooj zaum muaj log lossis lwm yam khoom siv pabcuam kom pab lawv mus ncig.
Kev txhawb zog siab
Ua neej nyob nrog cov mob muaj mob loj tuaj yeem ntxhov siab rau menyuam yaus, nrog rau lawv niam lawv txiv thiab lwm tus neeg saib xyuas.
Yog tias koj lossis koj tus menyuam muaj kev ntxhov siab, nyuaj siab, lossis lwm yam kev nyuaj siab mob hlwb, qhia rau koj tus kws kho mob paub.
Lawv yuav xa koj mus cuag kws kho kev nyuaj siab mob hlwb kom pab tswv yim lossis lwm yam kev kho mob. Lawv kuj tseem tuaj yeem txhawb koj kom txuas nrog pab txhawb nqa rau cov neeg nyob nrog SMA.
Cov nqa mus
Txawm hais tias tam sim no tsis muaj tshuaj los kho SMA, muaj cov kev kho mob los pab txo kev loj hlob ntawm tus kab mob, daws cov tsos mob, thiab tswj cov teeb meem tshwm sim.
Koj tus menyuam txoj kev npaj khomob yuav pom zoo nyob ntawm lawv cov kev mob tshwm sim thiab kev pab. Txhawm rau kawm paub ntau ntxiv txog cov kev kho mob uas muaj, tham nrog lawv pab neeg tu tus mob.
Kev kho thaum ntxov yog ib qho tseem ceeb rau kev txhawb nqa cov txiaj ntsig zoo tshaj plaws hauv cov neeg uas muaj SMA.