Ngatidzidzei nezvekusasimba kwetsandanyama dzekuzvarwa nadzo (Congenital Myasthenic Syndrome - CMS)

Wakamboona here kuti mwana mudiki anoneta nekukurumidza, kunyangwe ari kutamba kana kuita mabasa madiki, uye anonzwa sekunge haana simba? Dzimwe nguva unonzwa kuti zvakaoma kudya, kutaura, kana kutobwaira? Kana uine zviratidzo zvakaita seizvi, zvinogona kunge zvichikonzerwa nekushaya simba kwetsandanyama dzatichataura nezvadzo nhasi, izvo zvinonzi `(Congenital Myasthenic Syndrome)` kana `(CMS)` muchidimbu. Usazvidya moyo, ngatitaurei nezveizvi zvakadzama, zviri nyore.

Chii chinonzi `(Congenital Myasthenic Syndrome - CMS)`?

Zvichitaurwa zviri nyore, `(CMS)` iboka rezvirwere zvinowanikwa pakuzvarwa. Chinhu chikuru chinoitika mune izvi ndechekuti tsandanyama dzinopera simba panguva yekurovedza muviri, ndiko kuti, pakuita chimwe chinhu. Izwi rekuti ``congenital`` rinoreva ``kuzvarwa kubva pakuzvarwa.''

Funga nezvazvo, kana tichiwanzoita maekisesaizi akadaro, zvakajairika kunzwa kuneta zvishoma. Asi kune munhu ane `(CMS)`, kunyangwe achiita chimwe chinhu chidiki, sekufamba kana kutamba, tsandanyama dzinopera simba uye zvinova zvakaoma kuramba uchiita izvozvo. Zvisinei, paunorega kuita chiitiko ichocho wozorora kwenguva yakati, zvinova nani zvakare.

Dambudziko iri rinowanzo kanganisa tsandanyama dzechiso . Kureva kuti, tsandanyama dzatinoshandisa kutsenga, kumedza, uye kupenya. Rinogonawo kukanganisa dzimwe tsandanyama (dzatinodaidza kuti "tsandanyama dzeskeletal") dzinotibatsira kufamba-famba nekufamba.

Zviratidzo zvinogona kunge zvisina kunyanya kuipa kune vamwe vanhu, uye zvakanyanya kune vamwe. Muzviitiko zvakakomba, zvinogona kuisa hupenyu panjodzi, kunyanya kana zvikakanganisa tsandanyama dzinokubatsira kufema.

Apo shoko riri pakati petsinga netsandanyama rinovhiringidzika!

Tsandanyama dzedu dzinoshanda zvichibva pamashoko anobva kutsinga. Sezvinongoita switch inodiwa kuti ubatidze mwenje, tsandanyama inoda mashoko etsinga kuti ishande. Pane nzvimbo yakakosha apo tsinga idzi nemasero etsinga zvinosangana uye zvinobatana. Vanachiremba vanodana izvi kuti "neuromuscular junction". Funga nezvazvo sebhiriji diki rinotumira mashoko.

Chinoitika kumunhu ane `(CMS)` ndechekuti pane dambudziko nebhiriji iroro, saka mashoko anobva kumasero etsinga kuenda kumasero emhasuru haafambi zvakanaka. Ndosaka tsandanyama dzisingashande zvakanaka uye dzichipera simba.

Kune mhando dze `(CMS)` here?

Ehe, kune mhando dzakawanda huru dzechirwere ichi chinonzi "(CMS)``. Vanachiremba vanoronga idzi zvichienderana nekuti dambudziko riri papi chaizvo pa "neuromuscular junction" yandambotaura, kureva kuti, nzvimbo inosangana tsinga netsandanyama.

Kune mhando nhatu dzinonyanya kukosha:

1. Presynaptic congenital myasthenic syndrome: Muchiitiko ichi, dambudziko riri mumasero etsinga anotumira shoko.

2. Synaptic congenital myasthenic syndrome inoitika munzvimbo iri pakati pemasero etsinga nemasero emhasuru:Dambudziko riripo pano nderekuti mukaha wakaita sebhiriji.

3. Postsynaptic congenital myasthenic syndrome: Dambudziko riri mutsandanyama dzinogamuchira meseji.

Uyezve, mukati merudzi rumwe nerumwe rweizvi, kune mamwe marudzi madiki akavakirwa pazvikanganiso zviri muzvikamu zvakati zvejoini, zvakaita se "basal lamina" kana kuti "acetylcholine receptor". Aya mazwi ekurapa akaoma kunzwisisa, asi heino pfungwa isina musoro.

Mamiriro ezvinhu aya e `(CMS)` akajairika zvakadii?

CMS chirwere chisingawanzoitiki. Hapana ruzivo rwakawanda pamusoro pekuti chakajairika sei. Ongororo yakaitwa muUK yakawana kuti inobata vana vanosvika 9 pamamiriyoni ega ega vari pasi pemakore 18. Nhamba iyoyo yakaderera zvikuru.

Ndeupi musiyano uripo pakati pe `(CMS)` ne `(Myasthenia Gravis)`?

Ungave wakambonzwa nezvechirwere chinonzi "Myasthenia Gravis." Zvirwere izvi zvose zvinokonzera kushaya simba kwetsandanyama nekuda kwedambudziko renzira iyo tsinga dzinotumira mameseji kutsandanyama. Asi pane musiyano mukuru pakati pezviviri izvi.

• (Congenital Myasthenic Syndrome - CMS): Ichi chirwere chemajini. Kureva kuti, chinokonzerwa nekuchinja kwemajini (`mutation`) kunowanikwa pakuzvarwa.
• Myasthenia Gravis: Ichi chirwere chinokonzerwa ne autoimmune . Izvi zvinoreva kuti masoja emuviri wedu anorwisa zvisizvo nzvimbo ye neuromuscular junction.

Zvichitaurwa zviri nyore, `(CMS)` idambudziko rine "dhizaini" (majini). `(Myasthenia Gravis)` idambudziko "rekusanzwisisa" kwesimba rekudzivirira muviri.

Ndezvipi zviratidzo zvemunhu ane `(CMS)`?

Zviratidzo zvinogona kusiyana zvishoma zvichienderana nerudzi rweCMS, asi zviratidzo zvakajairika zvinosanganisira:

• Tsandanyama dzinoshanda zvakanyanya uye dzinoshaya simba kana waneta. Unoneta kunyangwe mushure mekushanda zvishoma.
• Kuomerwa nekudzora kana kurasikirwa nekudzora tsandanyama .
• Maziso emeso akarembera (anonziwo ptosis).
• Kuona kaviri .
• Ziso rinoita seriri kudhonzwa kurutivi rumwe (ziso rine usimbe).
• Kuoma kutaura (inzwi rinogona kuchinja, rinogona kutsvuka).
• Kuomerwa nekumedza chikafu.

Kana mwana aine chimwe chezviratidzo izvi kana kupfuura, zvakakosha zvikuru kutsvaga rubatsiro kubva kuna chiremba.

Zviratidzo zve `(CMS)` zvinowanzotanga pazera ripi?

Zviratidzo zveCMS zvinowanzotanga achiri mudiki, achiri mudiki kana achiri mudiki . Kana mwana wako achinonoka kukura kwehunyanzvi hwekufamba netsoka (semuenzaniso, anononoka kukambaira, kumira, kana kufamba), izvi zvinogona kuva chiratidzo chechirwere ichi.

Zvisinei, zviratidzo zvemamwe marudzi e `(CMS)`Inogonawo kuoneka gare gare, semuenzaniso, muhudiki kana kunyange gare gare muhukuru.

Ndezvipi zvikonzero zve `(CMS)`?

Sezvandambotaura kare, chikonzero chikuru che `(CMS)` kuchinja kwemajini, kureva kuti, `(mutation).` Zvese zviri mumuviri wedu zvinodzorwa nemajini. Saka, kana paine chikanganiso mumajini anorayira kugadzirwa kwemapuroteni anobatsira mukufambisa mameseji kubva kutsinga kuenda kutsandanyama, mamiriro aya e `(CMS)` anoitika.

Kune majini akati wandei anobatanidzwa mune izvi. Heano mienzaniso mishoma:

• `(CHRNE)`
• `(RAPSN)`
• `(TAURAI)`
• `(COLQ)`
• `(DOK7)`

Majini aya ndiwo anorayira masero kuti agadzire mapuroteni anodiwa pakuchinjana mashoko panosangana tsinga dzetsinga. Kana paine `(mutation)` mumajini aya, kureva kuti, shanduko, masero haagamuchire mirairo nemazvo. Ipapo mashoko ari pamusoro pebhiriji iroro anokanganiswa. Ndizvo zvinokonzera zviratidzo zve `(CMS)`.

Chinhu chinobva kuchizvarwa che`(CMS)` here?

Ehe, `(CMS)` chirwere chinogona kugara nhaka kubva kuchizvarwa kuenda kune chimwe.

Kazhinji inogarwa nhaka nenzira ye "autosomal recessive". Izvi zvinoreva kuti kuti mwana ave nechirwere ichi, vabereki vese vemuviri vanofanira kugara nhaka jini rakakanganisika. Vabereki vanogona kunge vasina zviratidzo, asi vanogona kunge vari ivo vanochitakura.

Mamwe marudzi eCMS anogonawo kugarwa nhaka nenzira inotonga autosomal . Kana zvakadaro, mwana anogona kuva nechirwere ichi kunyangwe akagara nhaka gene rakakanganisika kubva kumubereki mumwe chete wenyama .

Uyewo, dzimwe nguva munhu anogona kubatwa neCMS nekuda kwekuchinja kwemuviri , kunyangwe pasina munhu mumhuri akambova nechirwere ichi.

Ndiani ari panjodzi huru yekubatwa nechirwere che `(CMS)`?

Munhu wese anogona kuva neCMS. Zvisinei, kana mumwe munhu mumhuri yako aine chirwere ichi (nhoroondo yemhuri), iwe uri panjodzi huru yekuchibatawo.

Ndezvipi zvinetso zvinokonzerwa ne `(CMS)`?

Chirwere ichi `(CMS)` chinogona kukonzera matambudziko akasiyana-siyana. Mamwe acho ndeaya:

• Kuomerwa nekuyamwa kana kudya (kunyanya kuvacheche).
• Tsandanyama dzakaoma .
• Kunonoka kupasa matanho akakosha ekukura (kunyanya muhunyanzvi hwekufambisa makumbo).
• Kutadza kufamba.
• Kumbomira kufema nguva nenguva (apnea).
• Kubatwa nepfari ( kufanana nekugwinya )
• Kuremara kwepfungwa - Izvi hazviitiki kune wese munhu, asi kune mamwe marudzi chete.
• Kukanganiswa kwetsinga (neuropathy).
• Kusagadzikana kwemetabolism .

Haasi matambudziko ese aya anoitika kune munhu wese. Zvinoenderana nerudzi rweCMS, kuoma kwayo, uye kuti kurapwa kwacho kunobudirira sei.

Nzira yekuziva sei mamiriro e `(CMS)`?

Chiremba achaongorora CMS nekukuongorora zvakakwana uye kuita bvunzo patsinga dzako. Achakubvunza nezvezviratidzo zvako uye onyora nhoroondo yakazara yehutano hwako (sekunge pane mumwe munhu mumhuri mako akambova nechirwere ichi).

Kana uchifungidzira kuti une CMS, chiremba wako anogona kukukumbira kuti uite mamwe maekisesaizi emuviri ari pamberi pake (semuenzaniso, kukwira masitepisi) kuti aone kuti muviri wako unoita sei.

Uyezve, mimwe miedzo inogona kuitwa kuti ionekwe sekuti hapana zvimwe zvirwere zvinogona kukonzera zviratidzo zvakafanana:

• Kuongororwa kweropa .
• Kuongororwa kwekufambisa tsinga - Muedzo unoyera kumhanya kunoita mashoko mutsinga.
• Electromyography (EMG) - Muedzo unoyera mashandiro emagetsi emhasuru.

Kuongororwa kwemajini kwe `(CMS)`

Kuongororwa kwemajini bvunzo yakakosha zvikuru pakuongorora CMS. Inobatsira kuona shanduko chaiyo yemajini iri kukonzera zviratidzo zvako. Chiremba wako achatora sampuli diki yeropa rako oedza DNA iri mariri. Kuziva rudzi rweCMS yaunayo uye kuti dambudziko riri papi panosangana neuromuscular kunogona kubatsira chiremba wako kuronga kurapwa kwako.

`(CMS)` inorapwa sei?

Parizvino hapana mushonga weCMS. Zvisinei, kune mishonga inogona kubatsira kudzora zviratidzo uye kuita kuti hupenyu huve nyore.

Mishonga inowanzo shandiswa kuchengetedza kana kuvandudza mashandiro emhasuru. Chiremba wako anogona kukupa mishonga yakaita se:

• Mishonga ye cholinergic agonists (semuenzaniso pyridostigmine, amifampridine kana 3,4-diaminopyridine).
• Mishonga inovhara mitsipa (semuenzaniso fluoxetine kana quinidine).
• Mishonga yeAdrenergic agonists (semuenzaniso salbutamol kana ephedrine).

Zvakakosha: Usamboshandisa mishonga iyi usina kupiwa mazano nachiremba. Zvakare, haisi mishonga yese inoshanda kune marudzi ese e `(CMS)`. Saka, kuongororwa kwakakodzera uye mazano nachiremba zvakakosha.

Kunyange zvazvo kurovedza muviri kungaita kuti zviratidzo zviwedzere kuipa, chiremba wako anogona kukutumira kuna chiremba wemuviri.Tsvaga kuti ndeapi maekisesaizi nemabasa akachengeteka, akapfava, uye akakodzera iwe. Izvi zvichabatsira kudzivirira kuomarara kwetsandanyama uye kuchengetedza hutano hwakanaka.

Vamwe vanhu vangangodawo kushandisa midziyo yekubatsira pakuita mabasa ezuva nezuva. Semuenzaniso, kushandisa wiricheya kunogona kubatsira kudzivirira tsaona uye kuita kuti zvive nyore kufamba-famba.

Pane mimwe migumisiro yemushonga here?

Kufanana nemushonga upi zvawo, mishonga ye `(CMS)` inogona kukonzera mimwe migumisiro. Izvi zvinosiyana zvichienderana nerudzi rwemushonga. Mimwe migumisiro inowanzo sanganisira:

• Kurwadziwa kwemudumbu.
• Kurwara neallergy.
• Matambudziko ekufema.
• Manyoka.
• Kuneta zvakanyanya.
• Kuwedzera kwekugadzirwa kwemate kana ziya.
• Kuchinja kwemaonero.

Usati watanga mushonga upi zvawo, taura nachiremba wako nezvemigumisiro inogona kuitika uye ziva kuti une ruzivo rwakakwana. Zvadaro unogona kusarudza zvine ruzivo nezvehutano hwako.

Chii chiri tarisiro yemunhu ane `(CMS)`? (Kufungidzira)

Zviratidzo zveCMS zvinosiyana zvikuru kubva kumunhu nemunhu. Vamwe vanhu vanogona kunge vaine zviratidzo zvishoma zvisingakanganisi hupenyu hwavo. Vamwe vanogona kunge vaine zviratidzo zvakakomba zvinogona kutyisidzira hupenyu, zvakaita sekunetseka kufema . Chiremba wako anogona kukupa maonero akanaka ehutano hwako.

Ko `(CMS)` inokanganisa hupenyu hwemunhu here?

CMS inogona kukanganisa kana kusakanganisa tarisiro yekurarama kwako. Kana uine zviratidzo zvishoma, CMS inogona kusakanganisa hutano hwako hwese. Zvisinei, kana zviratidzo zvikakanganisa tsandanyama dzinodzora kufema kwako, zvinogona kukanganisa tarisiro yekurarama kwako. Chikwata chako chekurapa chichakubatsira kudzora zviratidzo zvako kudzivirira matambudziko anotyisidzira hupenyu.

`(CMS)` inogona kudzivirirwa here?

Kusvika pari zvino, hapana nzira yawanikwa yekudzivirira mamiriro ezvinhu ekuti ``(CMS)```.

Kana uchironga kutanga mhuri, unogona kuona chiremba kuti akupe mazano ezvemajini kuti udzidze zvakawanda nezvenjodzi yekuva nemwana ane chirwere chemajini.

Uyewo, kana uine CMS, gara uchiudza chiremba wako usati watanga chero mushonga mutsva. Mimwe mishonga (semuenzaniso, mimwe mishonga inorwisa mabhakitiriya, mishonga yemwoyo, uye mishonga yepfungwa) inogona kuwedzera zviratidzo zveCMS. Kana izvi zvikaitika, chiremba wako anogona kukurudzira mimwe mishonga.

Ndinofanira kuona chiremba rini?

Kana iwe kana mwana wako muchiona zviratidzo zvekusasimba kwetsandanyama (CMS) panguva yekurovedza muviri, onai chiremba nekukasika.

Kune mwana wakoKana mwana wako asingakwanise kudya kana kuti ari kunonoka kusvika padanho rekukura, udza chiremba wemwana wako.

Njodzi! Kana mwana achinetseka kufema, kana ganda, miromo, kana nzara zvikachenuruka uye zvikaita bhuruu-grey (`cyanosis`), fonera 911 nekukasika, kana kuti uende navo kuchipatara chiri pedyo.

Mibvunzo ipi yandinofanira kubvunza chiremba wangu?

Kana iwe kana mwana wako maonekwa kuti mune CMS, mungave nemibvunzo yakawanda. Musatya kubvunza chiremba wenyu nezvayo. Heano mimwe mienzaniso:

• Mwana wangu/wangu ane rudzii rwe `(CMS)`?
• Ndeapi marapirwo amunokurudzira?
• Ndezvipi migumisiro yekurapa uku?
• Kana mwana wangu aine `(CMS)`, anogona here kutora chikamu mumitambo kana zvimwe zviitiko?

Zviratidzo zveCMS hazvifanani kune wese munhu. Dzimwe nguva, zvinhu zvakaita sekukwira masitepisi uye kurovedza muviri zvinogona kuoma zvishoma. Chiremba wako anogonawo kukurudzira kushandisa zvishandiso zvekubatsira, zvakaita sewiricheya, kudzivirira kudonha kana kukuvara.

Vana vanoonekwa vaine chirwere ichi vanogona kutora nguva yakati rebei kuti vagone kudzidza zvinhu zvinokosha pakukura, kunyanya hunyanzvi hwekufamba netsoka, zvichienzaniswa nevamwe vana vezera ravo. Kana ukaona izvi zvichiitika kumwana wako, taura nachiremba wako.

Pakupedzisira, zvinhu zvekurangarira (Mharidzo Yekuenda Kumba)

Kunyange zvazvo Congenital Myasthenic Syndrome (CMS) iri chirwere chisingawanzoitiki chinokonzera kushaya simba kwetsandanyama kunowanikwa pakuzvarwa, kana kuongororwa kwakakodzera uye kurapwa kwakakodzera, vanhu vazhinji vanogona kurarama hupenyu hwakajairika.

• Ngwarira zviratidzo: Ngwarira zvakanyanya zvinhu zvakaita sekunonoka kukura kwevana uye kuneta zvakanyanya panguva yekurovedza muviri.
• Tsvaga rubatsiro rwechiremba: Kana usina chokwadi, zvakakosha kuona chiremba kuti uwane chirwere chakakodzera.
• Tevedzera kurapwa kwako nemazvo: Tevedzera mirairo yachiremba wako nemishonga nemazvo. Kana vachikurudzira zvinhu zvakaita sekurovedza muviri, usazvisiya.
• Ramba uine tariro: Kurarama nechirwere ichi kunogona kuoma, asi hausi wega. Kune vanachiremba, varapi, nevadikanwi vanogona kukubatsira.

Chikwata chenyu chezvekurapa ndiyo nzvimbo yakanakisisa yekukubatsirai kunzwisisa mamiriro enyu uye kuti ndeapi marapirwo akakunakirai. Saka, musatya kubvunza mibvunzo yenyu uye kuudzai zvinokunetsai.

` Congenital Myasthenic Syndrome, CMS, kusasimba kwetsandanyama, zvirwere zvemajini, mitsipa yetsinga, zvirwere zvevana, urema hwekuzvarwa nahwo