Wakamboona here kuti mwana wako anongoerekana arembera, kana kuti anononoka kusimudza musoro wake kana kutenderera sevamwe vacheche? Dzimwe nguva, zvakajairika kuti isu sevabereki titange kunetseka patinoona mwana mudiki achimhanya-mhanya, achidonha, kana achinetseka kukwira masitepisi. Kunyange zvazvo zviratidzo izvi zvisiri nguva dzose chiratidzo chechimwe chinhu chakakomba, dzimwe nguva pane chimwe chirwere chisingawanzoitika chatinofanira kuziva. Izvozvo i spinal muscular atrophy, kana kuti zvatinodaidza nenyanzvi dzezvekurapa kuti ' Spinal Muscular Atrophy (SMA)'.
Zvichitaurwa zviri nyore, chii chinonzi SMA iyi?
Kupera simba kwemusana wemusana (SMA) chirwere chisingawanzoitika mumajini chinoita kuti tsandanyama dzinoda kufamba, idzo dzinova tsandanyama dzatinotonga, dzishaye simba zvishoma nezvishoma. Chinonyanya kukanganisa masero etsinga ari muchikamu chezasi chemusana wedu.
Funga nezvazvo nenzira iyi. Uropi hwedu nemusana zvinotumira chiratidzo chemagetsi, kana kuti shoko, kutsandanyama dzedu kuti "dzifambe." Shoko iri rinotakurwa nemasero etsinga akakosha anonzi ma neuron emagetsi. Kuti masero aya etsinga arambe akasimba, puroteni inonzi "Survival Motor Neuron" (SMN) inogadzirwa nejini inonzi SMN1 inokosha.
Mumunhu ane SMA, nekuda kwekusakwana kwejini re'SMN1', puroteni ye'SMN' haigadzirwe nehuwandu hunodiwa. Kana puroteni iyi yakarasika, masero etsinga (motor neurons) anotakura mashoko iwayo anofa zvishoma nezvishoma. Zvadaro tsandanyama hadzigamuchire zviratidzo zvinodiwa. Tsandanyama dzisingashandiswe dzinoderera zvishoma nezvishoma dzova dzisina simba. Izvi ndizvo zvatinodaidza kuti kusasimba kwetsandanyama .
Chinhu chakakosha ndechekuti SMA haikanganisi njere dzemwana, kuziva kwake, kana tsitsi dzake . Vanonzwisisa uye vanonzwa nyika yakavapoteredza zvakakwana. Tsandanyama chete ndidzo dzinenge dzisina simba.
Ndezvipi zviratidzo uye mhando dzeSMA?
Zviratidzo zveSMA zvinosiyana kubva pamunhu nemunhu. Zvinoenderana nekuti iprotein yakawanda sei ye'SMN' inogadzirwa mumuviri. Pamusoro pejini guru rinonzi 'SMN1', tinewo jini re'helper' rinonzi 'SMN2'. Iri jini re'SMN2' rinoburitsawo huwandu hweprotein ye'SMN'. Kana munhu aine makopi akawanda ejini re'SMN2', zviratidzo zvinova zvishoma.
SMA yakakamurwa kuita mhando huru shanu zvichienderana nezera iro zviratidzo zvinoonekwa.
| Rudzi rweSMA | Zera rekutanga kwezviratidzo | Zviratidzo zvakajairika |
|---|---|---|
| Rudzi 0 | Usati waberekwa (munguva yemwana asati aberekwa) | Kufamba zvishoma nezvishoma kwemwana ari mudumbu, kushaya simba kwakanyanya kwetsandanyama pakuzvarwa, kushaya simba mumuviri, kufema zvakaoma, uye chirwere chemwoyo chekuzvarwa nacho. Ichi ndicho chirwere chisingawanzoitiki uye chakakomba zvikuru. |
| Rudzi 1 (chirwere cheWernig-Hoffman) | Kubva pakuzvarwa kusvika pamwedzi mitanhatu | Kusakwanisa kubata musoro wakatwasuka, kusakwanisa kugara zvakanaka pasina rubatsiro, makumbo akaremara, kuoma kuyamwa nekumedza, kuchema kusina simba, kuoma kufema (chipfuva chakaita sebhero). |
| Rudzi rwechipiri (Chirwere cheDubowitz) | Kubva pamwedzi mitatu kusvika kumwedzi gumi nemishanu | Kukwanisa kugara pasi kana pasina rubatsiro (asi kunogona kunonoka), kutadza kumira kana kufamba pasina rubatsiro, kuva nemusana wakakombama (scoliosis), kunetseka kufema. |
| Rudzi rwechitatu (Chirwere cheKugelberg-Welander) | Kubva pamwedzi gumi nemisere kusvika pakuva munhu mukuru | Kukwanisa kufamba, asi uchinetseka kumhanya, kukwira masitepisi, kudonha nguva nenguva, kuda rubatsiro kubva pachigaro. Chigaro chevhiri chinogona kudiwa sezvaunokura. |
| Rudzi rwechina | Mukukura (mushure memakore makumi matatu) | Zvinhu zvese zvinokura zvakanaka, kusasimba kwetsandanyama (kunyanya mumakumbo), uye kunzwa sekunge tsandanyama dziri kudhonzwa. Kazhinji wiricheya haidiwi. |
Chii chinokonzera SMA?
SMA chirwere chemajini chinopfuudzwa kubva kuchizvarwa kuenda kune chimwe. Kutaura chokwadi, chinogara nhaka sehunhu hwe'autosomal recessive'. Izvi zvinorevei?
Zvichitaurwa zviri nyore, kuti mwana ave neSMA, vabereki vese vanofanira kugara nhaka kopi yegene reSMN1 risina kunaka. Kana mubereki mumwe chete akagara nhaka gene rakakanganisika, mwana haazove neSMA. Zvisinei, mwana achava "mutakuri" wechirwere. Izvi zvinoreva kuti mwana haazove nezviratidzo, asi acharamba achikwanisa kupa gene rakakanganisika kuvana vake mune ramangwana.
Nzira yekuziva chirwere nemazvo sei?
Kufanana nenyika dzakawanda nhasi, vacheche vanoongororwa zvirwere zvemajini zvakaita seizvi muSri Lanka. Zvisinei, dzimwe nguva, kunyanya avo vane zviratidzo zvishoma, vanozoonekwa gare gare.
Kana muine zvinokunetsai nezvemwana wenyu, chiremba anogona kubvunza mibvunzo yakaita seiyi pamunomuona:
- Mwana wako akanonoka here kupasa zvinhu zvakaita sekusimudza musoro wake nekugumburisa?
- Zvakaoma here kuti mwana agare kana kumira ega?
- Wakaona here dambudziko rekufema?
- Wakatanga rini kuona zviratidzo izvi?
- Pane mumwe munhu mumhuri yako akambova nezviratidzo izvi here?
Kuwedzera kumibvunzo iyi, bvunzo dzinotevera dzinogona kuitwa kusimbisa chirwere ichi:
- Kuongororwa kwemajini: Ropa rinotorwa uye jini re'SMN1' rinoongororwa zvakananga kuti rionekwe kana risina kunaka kana kuti risipo. Iyi ndiyo bvunzo huru yekusimbisa chirwere.
- Kuongororwa kweropa reCreatine Kinase (CK): Kana tsandanyama dzisisina simba, enzyme inonzi CK inoungana muropa. Kana izvi zvakwira, zvinogona kufungidzirwa kuti pane kukuvara kwetsandanyama.
- Kuongororwa kweTsitsi : Kuongororwa kwakadai seElectromyogram (EMG) kunoongorora kuti tsinga dzinotumira sei zviratidzo kutsandanyama.
- MRI kana CT scan: Wana mifananidzo yakadzama yemukati memuviri, kunyanya musana netsandanyama.
- Kuongororwa kwetsandanyama: Dzimwe nguva, kachidimbu kadiki ketsandanyama kanotorwa koongororwa nemaikorosikopu kuti zvionekwe kuti kukuvara kwacho kwakamira sei.
Ndeapi marapirwo eSMA?
Makore gumi kusvika gumi nemashanu apfuura, SMA yaingova nemishonga inotsigira yaidzora zviratidzo. Zvisinei, nhasi uno, nekufambira mberi kwesainzi yezvekurapa, kune mishonga yakawanda inoshanda zvikuru pasi rose inotarisa dambudziko remajini rinokonzera SMA.
1. Kutarisira Kunotsigira
Kunyangwe izvi zvisingarapi chirwere ichi, zvakakosha pakuvandudza hupenyu hwemwana.
- Rutsigiro rwekufema: Kunyanya murudzi rwekutanga nerwechipiri, sezvo tsandanyama dzekufema dzichipera simba, chifukidzo chakakosha kana, muzviitiko zvakakomba, muchina (wekufemesa) ungadikanwa.
- Kudya kunovaka muviri nekumedza: Nekuti tsandanyama dzinomedza hadzina simba, rubatsiro rwenyanzvi yezvekudya runodiwa kuti mwana awane kudya kwakanaka. Vamwe vacheche vanofanira kupiwa chikafu kuburikidza nechubhu yekudyisa.
- Kufamba-famba uye Kurapa Nemuviri: Kurovedza muviri kunogona kubatsira kudzivirira majoini uye kuchengetedza tsandanyama dzakasimba. Kana zvichidikanwa, unogona kushandisa masimbi emakumbo, chinofamba-famba, kana wiricheya yemagetsi.
- Matambudziko emusana: Kune vana vane scoliosis, chiremba anogona kukurudzira kupfeka corset (brace yekumashure) yakakosha kuti musana ugare wakatwasuka.
2. Kurapa Kwakanangana Nemajini
Iyi ndiyo mishonga yakachinja zvakanyanya kurapwa kweSMA.
- Nusinersen (Spinraza): Mushonga uyu unopihwa sejekiseni mumvura yemusana. Unoshanda nekukurudzira jini re "helper", SMN2, ratakataura nezvaro kare, uye zvichiita kuti rigadzire protein yakawanda yeSMN. Unofanira kutorwa mwedzi mishoma yega yega.
- Onasemnogene abeparvovec-xioi (Zolgensma): Iyi imishonga yemajini inopihwa kamwe chete. Inotsiva jini reSMN1 risina kunaka nekopi yejini reSMN1 rine hutano. Inowanzopihwa kuvana vari pasi pemakore maviri ekuberekwa.
- Risdiplam (Evrysdi): Uyu mushonga wemvura unonwiwa zuva nezuva unoshandawo nekuwedzera kugadzirwa kwepuroteni ye'SMN' kubva kugene re'SMN2'.
Kunyangwe mishonga iyi ichidhura zvikuru, yakaratidzwa kuti inovandudza zvikuru kukura kwevana (kubata musoro, kugara pasi) uye kudzora kufambira mberi kwechirwere. Unofanira kukurukura nachiremba wako kuti ndeipi mishonga yakanakira mwana wako.
Mharidzo Yekuenda Nayo Kumba
- SMA chirwere chemajini chinopedza simba tsandanyama. Zvisinei, hachikanganisi njere dzemwana .
- Kuoma kwezviratidzo kunosiyana zvichienderana nerudzi. Vamwe vana vanova nezviratidzo pakuzvarwa, vamwe havazviiti kusvika vakura.
- Kuti mwana ave neSMA, anofanira kugara nhaka jini rakakanganisika kubva kuna amai nababa vake .
- Nhasi uno, kune nzira dzemazuva ano dzekurapa dzinotarisa dambudziko remajini rinokonzera chirwere ichi. Idzi dzinogona kudzora chirwere ichi uye kuvandudza hupenyu hwevanhu.
- Kuchengeta mwana ane SMA ibasa rekubatana. Zvinoda rutsigiro rwechikwata chenyanzvi , kusanganisira vanachiremba vetsinga, vanachiremba vemapapu, vanachiremba vemuviri, uye nyanzvi dzezvekudya.Zvakakosha. Hausi wega, uye usatya kukumbira rubatsiro.
- Kana muine zvinokunetsai nezvekukura kana kufamba kwemwana wenyu, taurai nachiremba wenyu nekukasika . Kana chirwere chikaonekwa nekukurumidza, kurapwa kwacho kunobudirira zvikuru.
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