Mwana wako mudiki anoita seasina hupenyu here? Ngatidzidzei nezve (Congenital Muscular Dystrophy - CMD)!

Mwana wako achangoberekwa anonzwa akaremara here, sekunge haana hupenyu? Pamwe kuchema kwemwana kwakanyorova, uye nhengo dzake dziri kufamba zvishoma? Kana ukaona chimwe chinhu chakadai, unofanira kunetseka zvishoma. Nekuti chinogona kunge chiri chiratidzo chechirwere chetsandanyama chisingawanzoitiki chinonzi `(Congenital Muscular Dystrophy)`, kana `(CMD)` muchidimbu, icho chinowanikwa pakuzvarwa.

Chii chinonzi `(Congenital Muscular Dystrophy - CMD)`?

Muchidimbu, Congenital Muscular Dystrophy iboka rezvirwere zvinokonzera kushaya simba kwetsandanyama kunotanga pakuzvarwa kana nguva pfupi mushure mekuzvarwa. Izwi rekuti 'congenital' rinoreva 'kuvapo kubva pakuzvarwa'. Ichi chirwere chisingaperi chinogara nhaka, zvichireva kuti chinogona kupfuudzwa kubva kuchizvarwa kuenda kune chimwe. Izvi zvinoita kuti tsandanyama dzishaye simba zvishoma nezvishoma, uye zvimwe zviratidzo zvinogonawo kuoneka. Kushaya simba kwetsandanyama uku kunogonawo kuwedzera nekufamba kwenguva.

Ndedzipi mhando huru dze `(CMD)`?

Zvino ngationei, kune mhando dzakasiyana dzeizvi `(CMD)`. Vanachiremba vanoronga mhando idzi zvichienderana nemajini api anokanganiswa. Ngatitaurei nezvedzimwe mhando huru:

• Laminin-alpha 2-related muscular dystrophies (LAMA2): Izvi zvinogona kukanganisa vanhu vari pakati pe10% ne37% vane CMD. Vana vane chirwere ichi vanogona kusakwanisa kufamba zvachose pakutanga. Vanogonawo kunetseka nekutaura nekuda kwekushaya simba kwechiso uye rurimi rwakakura (macroglossia). Vana vanosvika chikamu chimwe muzvitatu vanogona kunge vaine pfari.
• Dystroglycanopathies (DGPs): Izvi zvinoitikawo mu12% kusvika 25% yezviitiko. Kuwedzera pakushaikwa kwetsandanyama, rudzi urwu runogonawo kukanganisa uropi hwemwana wako. Izvi zvinogona kukonzera pfari, kuremara kwepfungwa, uye matambudziko emaziso. Mamwe marudzi ari muboka iri anosanganisira Walker-Warburg syndrome, chirwere chetsandanyama-ziso-uropi, uye Fukuyama CMD (FCMD), iyo inonyanya kuwanikwa muJapan.
• Kusashanda kwemhasuru kunokonzerwa neCollagen VI (COL6-RDs): Izvi zvinoitikawo mu12% kusvika 19% yezvirwere. Kune mhando dzakasiyana-siyana dzinosiyana kubva padzisina kusimba kusvika padzisina kusimba, dzakadai seBethlem muscular dystrophy, intermediate COL6-RD, uye Ullrich congenital muscular dystrophy (UCMD).
• Myopathies ine chekuita neSelenoprotein N (SEPN1-RM): Izvi zvinoitika muzviitiko zvinenge 11%. Zvinoonekwa nekusasimba kwetsandanyama pakutanga kunokanganisa tsandanyama dzemusoro nedzemuviri (dzinonzi tsandanyama dzemusana). Izvi zvinogona kukonzera kusakwanisa kufema zvakanaka.

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

Ichi chirwere chisingawanzoitiki. Sekureva kwevaongorori, chinokanganisa vana vari pakati pe6 ne9 pamamiriyoni evana pasi rose.

Ndezvipi zviratidzo zve `(CMD)`?

Saka, zviratidzo zvemwana ane `(CMD)` ndezvipi? Chinonyanya kukosha kushaya simba kwetsandanyama. Unogona kuona zvinhu zvakaita seizvi pakuzvarwa kana mazuva mashoma mushure mekuzvarwa:

• Hypotonia: Vamwe vanhu vanotiwo izvi 'zvakaita sechidhori'. Zvinogona kuita sekuti makumbo nemakumbo zviri kurembera pasi.
• Kashoma kuzunungusa makumbo ako pasina chikonzero.
• Ruzha rwekuchema runononoka uye rusina simba.
• Zvakaoma kunwa mukaka nekuda kwekuoma kwekusvuta.
• Kuomarara kwetsandanyama nemapfundo, kukwenya kwetsoka.

Nguva pfupi mushure mekuzvarwa, kukura kwemwana mudiki kwehunyanzvi hwekufamba netsoka (zvinhu zvinosanganisira tsandanyama dzakakura) chiratidzo cheCMD. Semuenzaniso, kunonoka kukura kwemutsipa, kunonoka kutenderera, uye kunonoka kugara, kupfugama, kumira, uye kufamba. Semuenzaniso, kana mwana wako achiri kunetseka kuita zvinhu izvozvo vamwe vana vezera rimwe chete vachimhanya, kusvetuka, uye kutamba, ichocho chinhu chekufunga nezvacho.

Kuoma kwekushaya simba kwetsandanyama uku kunogona kusiyana kubva pamucheche kuenda kumucheche. Zvichienderana nerudzi rwe `(CMD)`, mwana wako anogonawo kuva nezvimwe zviratidzo zvakaita se:

• Matambudziko emaziso: Semuenzaniso, kuona zviri pedyo (myopia), kuwedzera kwedzvinyiriro yemaziso (glaucoma).
• Kudonha kwemaziso epamusoro (ptosis).
• Kusarongeka kweuropi: zvakaita se lissencephaly (kupfava kwemusoro weuropi) kana cerebellar malformations (kushata kwe cerebellum).
• Kubatwa nepfari.
• Kuremara kwepfungwa.

Ndezvipi zvinetso zvinogona kuitika nekuda kwe `(CMD)`?

Ndezvipi zvinetso zvinogona kuitika nekuda kwe `(CMD)`? Izvi zvinosiyanawo zvichienderana nerudzi rwe `(CMD)`. Asi kazhinji, zvinhu zvakaita seizvi zvinogona kuitika:

• Matambudziko ekufamba: Vamwe vana vangasakwanisa kufamba zvachose uye vangada wiricheya. Vamwe vangada zvishandiso zvekubatsira zvakaita semabraces emapfupa kana chinofamba netsoka kuti chivabatsire kufamba.
• Matambudziko ekufema: Dambudziko rinowanzoitika reCMD kutadza kufema kwenguva refu. Izvi zvinokonzerwa nekushaya simba kwetsandanyama dzinobatsira kufema. Izvi zvingada kufemeswa nemechanical (muchina wekufema). Izvi zvinogona kutungamira kuzvirwere zvakaita seatelectasis nepneumonia.
• Matambudziko emwoyo: Cardiomyopathy idambudziko rinowanzoitika reCMD. Izvi zvinogona kukonzera kutadza kushanda kwemoyo kwenguva refu.
• Matambudziko etsandanyama nemapfupa:Kusagona kufamba kunogona kukonzera scoliosis, musana wakakombama, uye njodzi yakakura ye osteopenia uye kutyoka kwemapfupa. Maronda ekumanikidzwa uye kusungwa kwemajoini (kusimba kwemhasuru nemarunda akakomberedza joini) zvinogonawo kuitika.
• Matambudziko etsinga: Kurarama nechirwere chisingaperi kunogona kuita kuti mwana wako anyanye kurwara nepfungwa kana kuzvidya mwoyo.

Sei `(Congenital Muscular Dystrophy)` iyi ichiitika?

Izvi zvinokonzerwa nekuchinja kwemajini. Kuchinja uku kunoitika mumajini anotarisira kuvaka nekuchengetedza tsandanyama dzine hutano mumiviri yedu. Nekuda kwekuchinja kwemajini uku, masero anofanirwa kuchengetedza tsandanyama dzemwana haakwanise kuita basa rawo nemazvo. Nekuda kweizvozvo, tsandanyama dzinopera simba zvishoma nezvishoma nekufamba kwenguva.

Kune majini akawanda anobatsira pakushanda kwetsandanyama, uye kune kushanduka kwemajini kwakawanda. Ndosaka kune mhando dzakasiyana dze muscular dystrophy neCMD.

Zvizhinji zvezvirwere zveCMD zvinogara nhaka nenzira ye autosomal recessive pattern. Izvi zvinoreva kuti mwana anogara nhaka genetic mutation inokonzera chirwere ichi kubva kuvabereki vese. Izvi zvinoreva kuti vabereki vese vanogona kunge vari ivo vanotakura mutation iyi, asi vangasaratidze zviratidzo. Zvisinei, kana mwana akagara nhaka mutation iyi kubva kuvabereki vese, chirwere ichi chichatanga.

Dzimwe nyaya dzeCMD dzinongoerekana dzaitika, zvichireva kuti kushanduka kwemajini kunoitika zvisina tsarukano uye hakugamuchirwi kubva kumubereki. Izvi zvinonzi a de novo mutation.

CMD inoonekwa sei?

Kana mwana wako aine zviratidzo zveCongenital Muscular Dystrophy (chiratidzo chikuru ihypotonia), chiremba wako anotanga aita bvunzo yemuviri, bvunzo yetsinga, uye bvunzo yetsandanyama. Mwana wako anogonawo kutumirwa kuna chiremba wetsinga dzevana kuti awane bvunzo dzakadzama.

Kana paine fungidziro yechirwere chinonzi "Congenital Muscular Dystrophy", chiremba wako anogona kukurudzira bvunzo dzakadai se:

• Kuongororwa kweropa reCreatine kinase: Enzyme inonzi creatine kinase inoburitswa muropa kana tsandanyama dzakuvara. Saka, kana huwandu hwayo hwakakwira muropa, inogona kuva chiratidzo chechirwere chekushaya simba kwetsandanyama.
• Electromyography (EMG): Iyi bvunzo inoyera mashandiro emagetsi emhasuru netsinga dzemwana wako.
• Kuongororwa kwemajini: Kune mimwe miedzo yemajini inogona kuona shanduko dzemajini dzine chekuita nekusashanda zvakanaka kwetsandanyama. Mapaneru emajini akakwana anogona kusimbisa rudzi chairwo rweCMD mune angangoita 60% yezviitiko.
• Kuongororwa kwetsandanyama:Chiremba anogona kutora tsandanyama diki yemwana wako. Nyanzvi inozoitarisa nemaikorosikopu kuti ione kana paine zviratidzo zvekusashanda zvakanaka kwetsandanyama.
• Echocardiogram neElectrocardiogram (EKG): Miedzo iyi inoongorora kana chirwere (CMD) chakanganisa tsandanyama dzemwoyo wemwana wako.
• Kuongororwa kweMRI yeuropi: Kana zvichibvira, chiremba wako anogona kukurudzira kuti uitwe MRI yeuropi. Mhando dzakawanda dzeCMD dzine chekuita nekusarongeka kwakasiyana-siyana muzvikamu zvakasiyana zveuropi.

Miedzo iyi ingaratidzika kunge yakawanda kwauri. Kuona mwana wako achiongororwa izvi kunogona kuva chiitiko chinorwadza zvikuru. Asi chaunofanira kuziva ndechekuti vanachiremba vanoda kupa mwana wako kuongororwa kwakakodzera uye kurapwa kwakanakisisa. Zviratidzo zveCMD zvinogona kufanana nezvezvimwe zvirwere, zvakaita semamwe ma myopathies (kusagadzikana kwemhasuru), uye zvimwe zvirwere zve metabolic, zvakaita sezvirwere zve glycogen storage uye zvirwere zve mitochondrial. Saka, zvakakosha kuti uwane kuongororwa kwakarurama.

Ndezvipi zvinorapwa zve `(CMD)`?

Parizvino hapana mushonga wechirwere ichi (Congenital Muscular Dystrophy). Zvisinei, vaongorori vachiri kuedza kutsvaga mushonga.

Chinangwa chikuru chekurapa ndechekudzora zviratidzo uye kuvandudza hupenyu hwemwana wako. Nzira dzekurapa dzinogona kusiyana zvichienderana nerudzi rweCMD. Izvi zvinogona kusanganisira:

• Kurapa muviri uye kurapwa nebasa: Chinangwa chikuru chekurapa uku ndechekusimbisa nekutambanudza tsandanyama dzemwana wako, izvo zvinobatsira kuchengetedza kufamba-famba.
• Corticosteroids: Corticosteroids, dzakadai seprednisolone nedeflazacort, inogona kubatsira kunonoka kushaya simba kwetsandanyama, kuvandudza mashandiro emapapu, kuderedza scoliosis, kuderedza kufambira mberi kwechirwere chemwoyo, uye kuwedzera hupenyu.
• Zvishandiso zvekufambisa: Zvishandiso zvakaita setsvimbo, mabraces, ma walker, uye ma wheelchairs zvinogona kubatsira mwana wako kufamba-famba uye kumudzivirira kuti asadonha.
• Kuvhiyiwa: Mwana wako angangoda kuvhiyiwa kuderedza kumanikidzwa kwetsandanyama dzakasimba uye kugadzirisa kukombama kwemusana (scoliosis).
• Kuchengetedza moyo: Kurapwa nekukurumidza nemishonga yakaita seACE inhibitors uye/kana beta-blockers kunogona kunonotsa kufambira mberi kwechirwere chemwoyo uye kudzivirira kutadza kushanda kwemoyo. Midziyo inonzi pacemakers inogonawo kubatsira kurapa matambudziko emwoyo nekutadza kushanda kwemoyo.
• Kurapa nekutaura: Izvi zvinogona kubatsira vana vane dambudziko rekutaura uye/kana kumedza.
• Kutarisirwa kwekufema: Midziyo yekubatsira kukosora nemidziyo yekufema inogona kubatsira pakufema. Kana munhu atadza kufema, tracheostomy (kuiswa kwechubhu nepaburi riri mumutsipa kuti ibatsire pakufema) pamwe nekubatsira pakufema zvinogona kudiwa.

Mwana wenyu anogonawo kutora chikamu mukuyedzwa kweCMD. Taurai nechikwata chevanachiremba vemwana wenyu kuti muone kana iyi iri sarudzo yenyu.

Chikwata chezvekurapa chiri kurapa `(CMD)`

Panogona kunge paine timu yenyanzvi nevashandi vehutano vari kushanda kuti vatarisire chirwere chemwana wako (CMD). Izvi zvinogona kusanganisira nyanzvi dzakadai se:

• Vanachiremba vevana
• Vanachiremba vepfungwa vevana
• Vanachiremba vemuviri vevana (Nyanzvi dzeMishonga yeMuviri neKudzoreredza Murwere)
• Nyanzvi dzezvemajini
• Vanachiremba vemapfupa vevana
• Vana vanorapa muviri vevana
• Vana vanorapa mabasa evana
• Vanachiremba vezvirwere zvemutauro wekutaura nevana
• Vanachiremba vemwoyo vevana
• Vanachiremba vemapapu evana
• Vanachiremba vepfungwa dzevana
• Vashandi vezvemagariro evanhu

Remangwana remwana ane `(CMD)` richave sei?

Zvakaoma kuti vaongorori nevanachiremba vafembere remangwana (ratinoti fungidziro) yemwana ane Congenital Muscular Dystrophy. Chikwata chevanachiremba vemwana wenyu chichakupai ruzivo rwakawanda sezvinobvira nezvezvamunotarisira mwana wenyu achiri kutarisirwa.

Kazhinji, chirwere chemusana chekuzvarwa nacho chinowanzova chakanyanya kuoma uye chinokura nekukurumidza kupfuura chirwere chemusana chinotanga muhudiki kana kuyaruka.

Nguva yekurarama kwevana vane chirwere chemudumbu chinokonzerwa nekukurumidzira kwechirwere ichi uye kuti ndedzipi tsandanyama dzinobatwa nacho. Zvikonzero zvikuru zverufu nekuda kwezvirwere izvi matambudziko ekufema kana emwoyo anokonzerwa nekushaya simba kwetsandanyama.

`(CMD)` inogona kudzivirirwa here?

Sezvo Congenital Muscular Dystrophy iri chirwere chinokonzerwa nemajini, hapana chaunogona kuita kuti chisapararire sezvachiri parizvino.

Usati waedza kuva nemwana, kana uchinetseka nezvekupfuudza muscular dystrophy kana zvimwe zvirwere zvemajini,Taura nachiremba wako nezvemazano ezvemajini. Mune zvimwe zviitiko, kuongororwa kwemwana asati aberekwa pakutanga kwekuzvitakura kunogona kubatsira kuona chirwere chacho.

Ndingabatsira sei mwana wangu ne `(CMD)`?

Kana mwana wako aine Congenital Muscular Dystrophy, zvakakosha kuti umutsigire kuti ave nechokwadi chekuti anowana rubatsiro rwekurapa rwakanakisisa uye rubatsiro rwekurapa rwakawanda sezvinobvira. Nekutsigira rubatsiro rwakadaro, unogona kumubatsira kuti ave nehupenyu hwakanaka.

Iwe nemhuri yako munogonawo kufunga nezvekubatana neboka rekutsigirana kwamunogona kusangana nevanhu vakambosangana nezviitiko zvakafanana. Nzvimbo dzakadai dzinogona kukupa simba repfungwa, ruzivo rutsva, uye zvakawanda zvekudzidza kubva kune zvakaitika kune vamwe.

Mwana wangu ane `(CMD)` anofanira kuona chiremba rini?

Kana mwana wako aine CMD, anofanira kusangana nechikwata chake chekurapa nguva nenguva kuti awane kurapwa uye aongorore zviratidzo zvake. Usapotsa nguva yekutevera nguva yekurapwa sezvinokurudzirwa nachiremba wako.

Mibvunzo ipi yandinofanira kubvunza chiremba wemwana wangu?

Kana mwana wako akaonekwa kuti ane CMD, zvingabatsira kubvunza mibvunzo iyi:

• Mwana wangu ane rudzii rwe `(CMD)`?
• Munokurudzira kurapwa kupi?
• Nderupi runyorwa rwenyanzvi dzese dzinofanira kuonekwa nemwana wangu?
• Munogara muchitaurirana nevamwe nyanzvi here?
• Chii chandingaita kumba kuti ndivandudze hupenyu hwemwana wangu? (semuenzaniso kurovedza muviri, kudya zvakanaka)
• Pane tsvakurudzo itsva here pamusoro pe `(CMD)`?
• Pane mimwe miedzo mitsva yekiriniki yeCMD iyo mwana wangu angakodzera here?
• Unogona kukurudzira boka rekutsigira here?

Zvinhu zvakakosha zvatinoda kudzoka nazvo kubva munyaya iyi ndeizvi

Zvakajairika kunzwa wakaremerwa uye uchinetseka kana mwana wako akaonekwa aine Congenital Muscular Dystrophy (CMD). Asi yeuka, timu yevanachiremba yemwana wako ichapa hurongwa hwakasimba uye hwakasiyana hwekutarisira. Zvakakosha kuve nechokwadi chekuti iwe, mwana wako, nemhuri yako munowana rutsigiro rwavanoda, uye kuti murambe makatarisisa hutano hwemwana wenyu. Timu yevanachiremba yemwana wenyu iripo kuti ikubatsirei, mwana wenyu, nemhuri yenyu muchikamu chega chega cherwendo. Musazvidya mwoyo, hamusi mega.

` Congenital Muscular Dystrophy, CMD, kusasimba kwetsandanyama, chirwere chemajini, zvirwere zvevana, hypotonia, kurasikirwa kwetsandanyama, hutano hwemwana