Tsandanyama dzemwana wako dziri kupera simba here? Izvi zvinogona kunge zviri Spinal Muscular Atrophy (SMA)

Wakaona here kuti mwana wako mudiki ari kutambura uye ari kufambisa nhengo dzake zvishoma pane vamwe vana? Zvinomuomera here kubata mutsipa wake wakatwasuka? Kana kuti mwana wako mukuru anoita seari kunetseka nekufamba, kumhanya, kana kusvetuka, uye muviri wake uri kuramba uchiderera here? Zvakajairika kuti iwe, saamai kana baba, unzwe kutya uye kuzvidya mwoyo paunoona zvinhu izvi. Nhasi tiri kutaura nezvechirwere chinogona kukonzera zviratidzo zvakadaro, asi chisingataurwi zvakanyanya munyika medu, asi zvakakosha kuziva nezvazvo. Ichocho chinonzi Spinal Muscular Atrophy , icho isu vanachiremba tinochidana (SMA) muchidimbu.

Zvichitaurwa zviri nyore, chii chinonzi SMA iyi?

Kupera kweMusungo weMusana (SMA) chirwere chinoberekwa nevabereki . Kureva kuti, chirwere chinopfuudzwa kubva kuvabereki kuenda kuvana. Chirwere ichi chinokanganisa tsinga dzemuviri wedu, zvichiita kuti tsandanyama dzedu dzishaye simba zvishoma nezvishoma uye dzipere. Mukurapa, tinozvidaidza kuti (atrophy) .

Ngatinzwisisei izvi zviri nyore. Fungidzira kuti tsandanyama dziri mumuviri wedu dzakaita semagirobhu emwenje. Kuti magirobhu aya abatidze, magetsi anofanira kubva pa switch kuburikidza newaya. Nenzira imwecheteyo, mameseji anobva muuropi hwedu (senge magetsi) anofanira kuenda kutsandanyama (magirobhu) kuburikidza nerudzi rwakakosha rwemasero etsinga (aya akafanana newaya) mumuzongoza. Tinodaidza aya masero etsinga kuti ma neuron emota epasi .

MuSMA, masero etsinga (motor neurons) ari mumusana anofa zvishoma nezvishoma. Zvadaro, mashoko anobva kuuropi haasviki mutsandanyama. Mugumisiro wacho ndewekuti tsandanyama hadzigamuchire mashoko ekushanda, saka dzinopera simba zvishoma nezvishoma uye dzinoderera.

Ndeapi marudzi makuru eSMA?

SMA haisi yese yakafanana. Vanachiremba vanoipatsanura kuita mhando huru shanu zvichienderana nezera rinotanga zviratidzo, kuoma kwechirwere, uye makore ekurarama. Kunzwisisa kupatsanurwa uku kunogona kukubatsira kunzwisisa zviri nani chirwere.

Sei chirwere ichi cheSMA chichiitika?

Izvi zvakakwanaChirwere chemajini . Kureva kuti, hachikonzerwi nechinhu chiri munharaunda kana hutachiona.

Rudzi rwakakosha rweprotein runokosha kuti ma neuron emuviri wedu arambe aine hutano. Jini guru rinorayira kugadzirwa kweprotein iyi ijini rekuti `SMN1` (survivor motor neuron 1) . Mwana ane SMA ane dambudziko mujini iri rekuti `SMN1`. Saka, protein inodiwa haigadzirwe mumuviri.

Asi, nerombo rakanaka, tine rimwe jini rekuti 'helper' mumuviri wedu rinogadzira puroteni iyi zvishoma, jini rekuti 'SMN2' . Asi rinongogadzira jini diki chete. Kuoma kwechirwere kunosiyana zvichienderana nehuwandu hwemakopi ejini rekuti 'SMN2' iro munhu anaro. Kana huwandu hwemakopi ekuti 'SMN2' hwakakwira, zviratidzo zvinogona kunge zvisina kunyanya kuipa. Ndosaka vamwe vanhu vaine chirwere chakanyanya seType 1, nepo vamwe vaine chirwere chisina kunyanya kuipa seType 4.

Chirwere ichi chinogarwa nhaka sei?

SMA inogarwa nhaka nenzira ye autosomal recessive pattern. Izvi zvinganzwika seshoko rakaoma, asi zvinongotaura seizvi:

• Kuti mwana ave neSMA, mwana anofanira kugara nhaka jini re'SMN1' risina kunaka kubva kuna amai nababa.
• Kazhinji, vabereki vese vari vaviri ndivo 'vanotakura' majini aya asina kunaka. Izvi zvinoreva kuti havana zviratidzo, asi vane kopi imwe chete yejini iri risina kunaka mumuviri wavo.
• Nguva imwe neimwe apo vabereki vaviri vanopa mwana vane mwana, pane mukana we25% wekuti mwana wacho achava neSMA.

SMA inoonekwa sei?

Kana uchifunga kuti mwana wako anogona kunge aine zviratidzo zveSMA, chinhu chekutanga chaunofanira kuita kuona chiremba ane hunyanzvi. Chiremba achakubvunza nezvezviratidzo zvemwana wako uye achanyatsoongorora mwana wako.

Nzira huru uye yakarurama yekusimbisa SMA ndeyekuongororwa kwemajini.

• Kuongororwa kwemajini: Uku kuongororwa kweropa kuri nyore kunogona kuona 95% yevarwere vane SMA nekuona chikanganiso chiri mujini re'SMN1'.
• Mimwe miedzo: Dzimwe nguva, kana zviratidzo zvakafanana nezvimwe zvirwere zvetsinga, chiremba anogona kukurudzira mimwe miedzo.
• Kuongororwa kweropa reCreatine kinase (CK): Iyi enzyme inowedzera mune zvimwe zvirwere zvinokuvadza tsandanyama. Zvisinei, muSMA, zvinowanzova zvakajairika.
• Electromyogram (EMG): Muedzo unoyera mashandiro emagetsi emhasuru netsinga.
• Kuongororwa kwetsandanyama: Kashoma, kachikamu kadiki ketsandanyama kanotorwa kuti kaongororwe.

Izvi zvinogona kuonekwa here panguva yekuzvitakura?

Ehe. Kana mumhuri menyu muine nhoroondo yeSMA kana kuti imi nemumwe wako muchizivikanwa kuti mune chirwere ichi, munogona kuyedza mwana wenyu ari mudumbu kuti aone kana aine chirwere ichi panguva yekuzvitakura.

• Amniocentesis: Kubuda kweropa muropa:Mushure memavhiki gumi nemana ekuzvitakura, tsono yakatetepa inopfuudzwa nemudumbu raamai uye mvura diki yeamniotic yakakomberedza mwana inotorwa kuti iongororwe.
• Kuongororwa kweChorionic villus sampling (CVS): Nzira inosanganisira kutora chidimbu chidiki chenyama kubva muplacenta wochiongorora pakupera kwemavhiki gumi ekuzvitakura.

Unogona kudzidza zvakawanda nezvebvunzo idzi nekutaura nachiremba wako.

Ndeapi marapirwo eSMA?

Zvinosuwisa kuti hapana mushonga weSMA parizvino. Asi usarasa tariro. Zvinhu zvasiyana zvikuru nhasi kupfuura zvazvaive makore gumi apfuura. Pane zvakawanda zvaunogona kuita kudzora zviratidzo, kuvandudza hupenyu hwemwana wako, uye kudzivirira matambudziko. Pamusoro pezvo, mishonga mitsva inoshanda zvikuru yave kuwanikwa munguva pfupi yapfuura inogona kuchinja mafambiro echirwere.

1. Kutarisira zviratidzo uye mabasa ekutsigira

Izvi zvinoita kuti hupenyu hwezuva nezuva huve nyore kumwana uye zvinomubatsira kuti arambe akasimba.

• Kurapa muviri: Kunobatsira kusimbisa tsandanyama, kudzivirira kuomarara kwemajoini, uye kuchengetedza chimiro chakakodzera.
• Kurapa kwemabasa: Kunobatsira mwana kuita mabasa ezuva nezuva ari ega, akadai sekudya nekupfeka.
• Zvishandiso zvekubatsira: Zvinhu zvakaita sezvifambiso zvekufamba, mawiricheya, uye mabraces ekuchengetedza musana wako wakatwasuka.
• Kurapa kwekutaura nekumedza: Kunobatsira vana vane matambudziko ekumedza kuti vadzidze kudya zvakachengeteka.
• Kudyisa: Kana kumedza kwakaoma zvikuru, chubhu yekudyisa inopinzwa nepamhino kana nepadumbu zvakananga mudumbu.
• Rutsigiro rwekufema: Michina yakakosha (inobatsirwa nekufema) inoshandiswa pamatambudziko ekufema.

2. Mishonga yemazuva ano yekurapa

Izvi ndizvo zvinhu zvakachinja kurapwa kweSMA. Zvinogadzirisa chikonzero chikuru chechirwere ichi, kushomeka kwemapuroteni.

• Kurapa kunochinja chirwere: Mishonga iyi inomutsa jini rinobatsira rinonzi `SMN2`, zvichiita kuti rigadzire mapuroteni akawanda eSMN.
• Nusinersen (Spinraza®): Uyu mushonga unopinzwa mumvura yakatenderedza musana.
• Risdiplam (Evrysdi®): Uyu mushonga unonwiwa zuva nezuva.
• Kurapa kwekutsiva majini:
• Onasemnogene abeparvovec-xioi (Zolgensma®): Uyu mumwe wemishonga inodhura zvikuru pasi rose. Unoshanda nekutsiva jini reSMN1 risina kunaka nejini reSMN1 rine hutano uye rinoshanda. Imushonga wemutsinga (IV) unopinzwa kamwe chete kuvana vari pasi pemakore maviri.

Mibvunzo yekubvunza chiremba wako

Zvakajairika kuva nemibvunzo yakawanda mupfungwa dzako kana ukaona kuti mwana wako ane SMA. Usavanza chero chinhu, bvunza chiremba wako.

• Mwana wangu ane rudzii rweSMA?
• Mamiriro ezvinhu akaita sei atingatarisira mune ramangwana zvichienderana nerudzi urwu?
• Ndeapi marapirwo akanakira mwana wangu?
• Pane migumisiro yakaipa here pakurapa uku?
• Vamwe vemumhuri medu kana mwana wedu anotevera vari panjodzi yekubatwa nechirwere ichi here? Tinofanira kuongororwa majini here?
• Mwana anoda kutarisirwa kwenguva refu sei?
• Ndezvipi zviratidzo zvematambudziko andinofanira kunyanya kuziva?

Kubata chirwere cheSMA kunogona kuoma. Asi yeuka kuti hausi wega. Nekurapwa kwakakodzera, rubatsiro, uye nerudo nerutsigiro rwemhuri, unogona kupa mwana wako hupenyu hwakanaka.