Ingabe ingane yakho encane ibonakala ingaphili? Ake sifunde ngalokhu (Congenital Muscular Dystrophy - CMD)!

Ingabe ingane yakho esanda kuzalwa izizwa ibuthakathaka kakhulu, sengathi ayiphilile? Mhlawumbe ukukhala kwengane kuthambile kakhulu, futhi imilenze yayo ayinyakazi kakhulu? Uma ubona into efana nale, kufanele ukhathazeke kancane. Ngoba kungaba uphawu lwesifo esingavamile semisipha esibizwa ngokuthi `(Congenital Muscular Dystrophy)`, noma `(CMD)` ngamafuphi, esikhona lapho izalwa.

Kuyini `(Congenital Muscular Dystrophy - CMD)`?

Kalula nje, i-Congenital Muscular Dystrophy yiqembu lezifo ezibangela ubuthakathaka bemisipha obuqala ekuzalweni noma ngokushesha nje ngemva kokuzalwa. Igama elithi 'congenital' lisho 'ukuba khona kusukela ekuzalweni'. Lesi yisimo esingamahlalakhona esizuzwa njengefa, okusho ukuthi singadluliselwa esizukulwaneni kuya kwesinye. Lokhu kubangela ukuba imisipha ibe buthaka kancane kancane, kanti nezinye izimpawu zingase zivele. Lobu buthakathaka bemisipha bungakhula ngokuhamba kwesikhathi.

Yiziphi izinhlobo eziyinhloko ze-`(CMD)`?

Manje ake sibone, kunezinhlobo ezahlukene zalokhu `(CMD)`. Odokotela bahlukanisa lezi zinhlobo ngokwezakhi zofuzo ezithintekile. Ake sixoxe ngezinhlobo ezimbalwa eziyinhloko:

• I-Laminin-alpha 2-related muscular dystrophies (LAMA2): Lokhu kungathinta abantu abaphakathi kuka-10% no-37% abane-CMD. Izingane ezinalesi simo zingase zingakwazi ukuhamba nhlobo ezigabeni zokuqala. Zingase zibe nobunzima bokukhuluma ngenxa yobuthakathaka bobuso kanye nolimi olukhulu (macroglossia). Cishe ingxenye eyodwa kwezintathu zezingane zingase zibe nesifo sokuwa.
• I-Dystroglycanopathies (DGPs): Lokhu kwenzeka futhi ezimweni ezingu-12% kuya ku-25%. Ngaphezu kobuthakathaka bemisipha, lolu hlobo lungathinta nobuchopho bengane yakho. Lokhu kungabangela ukuquleka, ukukhubazeka kwengqondo, kanye nezinkinga zamehlo. Ezinye izinhlobo kuleli qembu zifaka phakathi i-Walker-Warburg syndrome, isifo semisipha-iso-ubuchopho, kanye ne-Fukuyama CMD (FCMD), evame kakhulu eJapane.
• I-Collagen VI-related muscular dystrophies (COL6-RDs): Lokhu kwenzeka futhi ezimweni ezingu-12% kuya ku-19%. Kunezinhlobo ezincane ezisukela kwezincane kuya kwezinzima, njenge-Bethlem muscular dystrophy, i-intermediate COL6-RD, kanye ne-Ullrich congenital muscular dystrophy (UCMD).
• I-Selenoprotein N-related myopathies (SEPN1-RM): Lokhu kwenzeka cishe ku-11% wamacala. Kubonakala ngobuthakathaka bemisipha obuqala ekuqaleni obuthinta imisipha yekhanda kanye nomzimba (okuthiwa imisipha ye-axial). Lokhu kungaholela ngokushesha ekungakwazini ukuphefumula kahle.

Sivame kangakanani lesi simo `(CMD)`?

Empeleni lesi yisifo esingavamile kakhulu. Ngokusho kwabacwaningi, sithinta izingane eziphakathi kuka-6 no-9 kwesigidi emhlabeni jikelele.

Ziyini izimpawu ze-`(CMD)`?

Kulungile, ziyini izimpawu zomntwana one-`(CMD)`? Okuyinhloko ubuthakathaka bemisipha. Ungase ubone izinto ezinjengalezi lapho ezalwa noma ezinsukwini ezimbalwa ngemva kokuzalwa:

• I-Hypotonia: Abanye abantu bakubiza nangokuthi lesi simo 'sifana nodoli'. Kungase kuzwakale sengathi izitho zomzimba zilenga phansi.
• Akuvamile kakhulu ukunyakazisa izitho zakho ngokuzenzekelayo.
• Umsindo wokukhala uphansi kakhulu futhi ubuthakathaka.
• Kunzima ukuphuza ubisi ngenxa yobunzima bokuncela.
• Ukuqina kwemisipha namalunga, ukufinyela.

Ngemva nje kokuzalwa, ukukhula komntwana kwamakhono okunyakaza okukhulu (izinto ezihilela imisipha emikhulu) nakho kuyisibonakaliso se-CMD. Isibonelo, ukubambezeleka ekukhuleni kwentamo, ukubambezeleka kokugingqika, kanye nokubambezeleka kokuhlala, ukuguqa ngamadolo, ukuma, nokuhamba. Isibonelo, uma ingane yakho isalwela ukwenza lezo zinto kuyilapho ezinye izingane zobudala obufanayo zigijima, zigxuma, futhi zidlala, lokho kuyinto okufanele uyicabangele.

Ubunzima balobu buthakathaka bemisipha bungahluka kusuka kumntwana kuya kumntwana. Kuye ngohlobo lwe-`(CMD)`, ingane yakho ingase ibe nezimpawu ezengeziwe ezifana nalezi:

• Izinkinga zamehlo: Isibonelo, ukubona eduze (i-myopia), ukucindezeleka kwamehlo okwenyuka (i-glaucoma).
• Ukugoba kwejwabu elingaphezulu (i-ptosis).
• Ukukhubazeka kobuchopho: njenge-lissencephaly (ukushelela kobuso bobuchopho) noma ukukhubazeka kwe-cerebellar (ukukhubazeka kwe-cerebellum).
• Ukuquleka.
• Ukukhubazeka kwengqondo.

Yiziphi izinkinga ezingaba khona ze-`(CMD)`?

Yiziphi izinkinga ezingaba khona ze-`(CMD)`? Lokhu kuyahlukahluka kuye ngohlobo lwe-`(CMD)`. Kodwa ngokuvamile, izinto ezinjengalezi zingenzeka:

• Izinkinga zokuhamba: Ezinye izingane zingase zingakwazi nhlobo ukuhamba futhi zingase zidinge isihlalo sabakhubazekile. Ezinye zingase zidinge amadivayisi okusiza njengezinsimbi zokubopha amathambo noma i-walker ukuze zibasize bahambe.
• Izinkinga zokuphefumula: Inkinga evamile ye-CMD ukwehluleka kokuphefumula okungapheli. Lokhu kubangelwa ubuthakathaka bemisipha esiza ekuphefumuleni. Lokhu kungadinga ukuphefumula ngomshini (umshini wokuphefumula). Lokhu kungaholela ezimweni ezifana ne-atelectasis kanye ne-pneumonia.
• Izinkinga zenhliziyo: I-cardiomyopathy iyinkinga evamile ye-CMD. Lokhu kungaholela ekuhlulekeni kwenhliziyo okungapheli.
• Izinkinga zemisipha:Ukukhubazeka kokunyakaza kungaholela ekuqhekekeni kwemisipha, umgogodla ogobile, kanye nengozi eyengeziwe ye-osteopenia kanye nokuqhekeka kwamathambo. Izilonda ezicindezelayo kanye nokugoqeka kwamalunga (ukuqina kwemisipha kanye nemisipha ezungeze ilunga) nakho kungavela.
• Izinkinga zemizwa: Ukuphila nesifo esingamahlalakhona kungenza ingane yakho ibe namathuba amaningi okuthola ukucindezeleka kanye/noma ukukhathazeka.

Kungani lokhu `(Congenital Muscular Dystrophy)` kwenzeka?

Lokhu kubangelwa ukuguquka kwezakhi zofuzo. Lokhu kuguquka kwenzeka ezizakhi zofuzo ezibangela ukwakha nokugcina imisipha enempilo emizimbeni yethu. Ngenxa yalokhu kuguquka kwezakhi zofuzo, amangqamuzana okufanele alondoloze imisipha yomntwana awakwazi ukwenza umsebenzi wawo kahle. Ngenxa yalokho, imisipha iba buthaka kancane kancane ngokuhamba kwesikhathi.

Kunezinhlobo eziningi zezakhi zofuzo ezifaka isandla ekusebenzeni kwemisipha, futhi kunezinhlobo eziningi zezakhi zofuzo ezingaba khona. Yingakho kunezinhlobo ezahlukene ze-muscular dystrophy kanye ne-CMD.

Iningi lamacala e-CMD azuzwa njengefa ngendlela yokubuyisana kwe-autosomal. Kalula nje, lokhu kusho ukuthi ingane izuza i-mutation yezakhi zofuzo ebangela lesi sifo kubazali bobabili. Lokhu kusho ukuthi bobabili abazali bangaba ngabathwali be-mutation, kodwa bangase bangakhombisi izimpawu. Kodwa-ke, uma ingane izuza i-mutation kubazali bobabili, lesi sifo sizokhula.

Ezinye izimo ze-CMD zenzeka ngokungazelelwe, okusho ukuthi ukuguquka kwezakhi zofuzo kwenzeka ngokungahleliwe futhi akuzuzwa njengefa kumzali. Lokhu kubizwa ngokuthi ukuguqulwa kwezakhi zofuzo.

I-CMD itholakala kanjani?

Uma ingane yakho inezimpawu ze-Congenital Muscular Dystrophy (uphawu oluyinhloko yi-hypotonia), udokotela wakho uzoqala enze ukuhlolwa ngokomzimba, ukuhlolwa kwezinzwa, kanye nokuhlolwa kwemisipha. Ingane yakho ingathunyelwa kudokotela wezinzwa wezingane ukuze ahlolwe ngokujulile.

Uma kukhona ukusolakala kwesimo esibizwa ngokuthi "Congenital Muscular Dystrophy", udokotela wakho angase akuncomele ukuhlolwa okufana nalokhu:

• Ukuhlolwa kwegazi kwe-Creatine kinase: I-enzyme ebizwa ngokuthi i-creatine kinase ikhishwa egazini lapho imisipha yonakele. Ngakho-ke, uma izinga layo liphezulu egazini, kungaba uphawu lwesifo sobuthakathaka bemisipha.
• I-Electromyography (EMG): Lokhu kuhlolwa kulinganisa umsebenzi kagesi wemisipha nezinzwa zengane yakho.
• Ukuhlolwa kwezakhi zofuzo: Kunezinye izivivinyo zezakhi zofuzo ezingabona ukuguquka kwezakhi zofuzo okuhlobene ne-muscular dystrophy. Amaphaneli ezakhi zofuzo aphelele angaqinisekisa uhlobo oluthile lwe-CMD cishe kuma-60% ezimo.
• Ukuhlolwa kwemisipha:Udokotela angase athathe isampula encane yemisipha yengane yakho. Uchwepheshe uzobe eseyibheka ngaphansi kwe-microscope ukuze ahlole izimpawu ze-muscular dystrophy.
• I-Echocardiogram kanye ne-Electrocardiogram (EKG): Lezi zivivinyo zihlola ukuthi isimo (i-CMD) sithinte yini imisipha yenhliziyo yengane yakho.
• Ukuskena kwe-Brain MRI: Uma kungenzeka, udokotela wakho angase akuncome i-brain MRI. Izinhlobo eziningi ze-CMD zihlotshaniswa nokukhubazeka okuthile ezingxenyeni ezahlukene zobuchopho.

Lokhu kuhlolwa kungase kubonakale kukuningi kuwe. Ukubuka ingane yakho idlula kulezi zivivinyo kungaba yinto ebuhlungu kakhulu. Kodwa okudingeka ukwazi ukuthi odokotela bafuna ukunikeza ingane yakho ukuxilongwa okufanele kanye nokwelashwa okungcono kakhulu. Izimpawu ze-CMD zingafana nezezinye izifo, njengeminye i-myopathies (ukuphazamiseka kwemisipha), kanye nezinye izimo ze-metabolic, njengezifo zokugcina i-glycogen kanye nezifo ze-mitochondrial. Ngakho-ke, kubaluleke kakhulu ukuthola ukuxilongwa okunembile.

Yiziphi izindlela zokwelapha `(CMD)`?

Okwamanje akukho ikhambi lalesi simo (Congenital Muscular Dystrophy). Kodwa-ke, abacwaningi bayaqhubeka nokuzama ukuthola ikhambi.

Umgomo oyinhloko wokwelashwa ukulawula izimpawu nokuthuthukisa ikhwalithi yokuphila kwengane yakho. Izinketho zokwelapha zingahluka kuye ngohlobo lwe-CMD. Lokhu kungafaka:

• Ukwelashwa ngokomzimba kanye nokwelashwa ngokomsebenzi: Umgomo oyinhloko walezi zindlela zokwelapha ukuqinisa nokwelula imisipha yengane yakho, okusiza ukugcina ukunyakaza.
• Ama-Corticosteroids: Ama-Corticosteroids, njenge-prednisolone kanye ne-deflazacort, angasiza ekubambezeleni ubuthakathaka bemisipha, athuthukise ukusebenza kwamaphaphu, anciphise ijubane le-scoliosis, anciphise ukuqhubeka kwe-cardiomyopathy, futhi andise impilo.
• Izinsiza zokuhamba: Amadivayisi afana nezinduku, ama-braces, ama-walker, kanye nezihlalo zabakhubazekile angasiza ingane yakho ukuthi ihambe futhi imvikele ekuweni.
• Ukuhlinzwa: Ingane yakho ingase idinge ukuhlinzwa ukuze kuncishiswe ingcindezi emisipheni eqinile futhi kulungiswe ukugoba komgogodla (i-scoliosis).
• Ukunakekelwa kwenhliziyo: Ukwelashwa kusenesikhathi ngemithi efana ne-ACE inhibitors kanye/noma ama-beta-blockers kunganciphisa ukuqhubeka kwe-cardiomyopathy futhi kuvimbele ukwehluleka kwenhliziyo. Amadivayisi abizwa ngokuthi ama-pacemaker angasiza futhi ekwelapheni izinkinga zesigqi senhliziyo kanye nokwehluleka kwenhliziyo.
• Ukwelapha ngenkulumo: Lokhu kungasiza izingane ezinenkinga yokukhuluma kanye/noma yokugwinya.
• Ukunakekelwa kokuphefumula: Amadivayisi okusiza ukukhwehlela kanye nemishini yokuphefumula ingasiza ekuphefumuleni. Ezimweni zokwehluleka kokuphefumula, i-tracheostomy (ukufakwa kwepayipi ngembobo entanyeni ukusiza ekuphefumuleni) kanye nokusiza ekuphefumuleni kungadingeka.

Ingane yakho ingase ikwazi ukuhlanganyela esivivinyweni somtholampilo se-CMD. Khuluma nethimba lezokwelapha lengane yakho ukuze ubone ukuthi lokhu kuyindlela yakho.

Ithimba lezokwelapha elilapha `(CMD)`

Kungase kube nethimba lochwepheshe kanye nabasebenzi bezempilo abasebenza ukuphatha isimo sengane yakho (i-CMD). Lokhu kungafaka phakathi ochwepheshe abafana nalaba:

• Odokotela bezingane
• Odokotela bezinzwa bezingane
• Odokotela be-physiotherapist bezingane (Ochwepheshe Bezokwelapha Nokuvuselela Impilo)
• Izazi zezakhi zofuzo
• Odokotela bamazinyo bezingane
• Abelaphi bezomzimba bezingane
• Abelaphi bezingane abasebenza emsebenzini
• Izazi zezifo zezingane zolimi lokukhuluma
• Odokotela benhliziyo bezingane
• Odokotela bamaphaphu ezingane
• Izazi zengqondo zezingane
• Izisebenzi zezenhlalakahle

Liyoba yini ikusasa lomntwana one-`(CMD)`?

Kunzima kubacwaningi nodokotela ukubikezela ikusasa (lokho esikubiza ngokuthi ukubikezela) kwengane ene-Congenital Muscular Dystrophy. Ithimba lezokwelapha lengane yakho lizokunikeza ulwazi oluningi ngangokunokwenzeka mayelana nokuthi yini ongayilindela ngenkathi ingane yakho inakekelwa yiyo.

Ngokuvamile, i-congenital muscular dystrophy ivame ukuba nzima kakhulu futhi ikhule ngokushesha kune-muscular dystrophy eqala ebuntwaneni noma ebusheni.

Isikhathi sokuphila kwezingane ezine-congenital muscular dystrophy sincike ekutheni lesi simo siba sibi ngokushesha kangakanani nokuthi yimiphi imisipha ethintekayo. Izimbangela eziyinhloko zokufa ngenxa yalezi zimo izinkinga zokuphefumula noma zenhliziyo ezibangelwa ubuthakathaka bemisipha.

Ingabe `(CMD)` ingagwenywa?

Njengoba i-Congenital Muscular Dystrophy iyisifo esibangelwa izakhi zofuzo, akukho ongakwenza ukuyivimbela njengoba injalo njengamanje.

Ngaphambi kokuba uzame ukuba nomntwana, uma ukhathazekile ngokudlulisela isifo sokuqina kwemisipha noma ezinye izifo zofuzo,Khuluma nodokotela wakho mayelana nokwelulekwa ngofuzo. Kwezinye izimo, ukuhlolwa kwangaphambi kokubeletha kusenesikhathi sokukhulelwa kungasiza ekutholeni lesi simo.

Ngingamsiza kanjani ingane yami nge-`(CMD)`?

Uma ingane yakho ine-Congenital Muscular Dystrophy, kubalulekile ukuthi uyimele ukuqinisekisa ukuthi ithola ukunakekelwa kwezokwelapha okungcono kakhulu kanye nezinsizakalo zokwelapha eziningi ngangokunokwenzeka. Ngokumela ukunakekelwa okunjalo, ungabasiza babe nekhwalithi engcono kakhulu yokuphila.

Wena nomndeni wakho ningacabanga nokujoyina iqembu lokusekelana lapho ningahlangana khona nabantu abake badlula kokuhlangenwe nakho okufanayo. Izindawo ezinjengalezi zingakunikeza amandla engqondo, ulwazi olusha, nokuningi ongakufunda kokuhlangenwe nakho kwabanye.

Ingane yami ene-`(CMD)` kufanele imbone nini udokotela?

Uma ingane yakho ine-CMD, kufanele ihlangane nethimba layo lezokwelapha njalo ukuze ithole ukwelashwa futhi iqaphe izimpawu zayo. Ungaphuthelwa ama-aphoyintimenti okulandelela njengoba udokotela wakho encoma.

Yimiphi imibuzo okufanele ngiyibuze udokotela wengane yami?

Uma ingane yakho itholakale ine-CMD, kungaba usizo ukubuza le mibuzo:

• Hlobo luni lwe-`(CMD)` ingane yami enalo?
• Yikuphi ukwelashwa okuncomayo?
• Yiluphi uhlu oluphelele lochwepheshe okufanele ingane yami ibabone?
• Ingabe uxhumana nabanye ochwepheshe?
• Yini engingayenza ekhaya ukuthuthukisa ikhwalithi yempilo yengane yami? (isib. ukuzivocavoca umzimba, ukudla okudlayo)
• Ingabe kukhona ucwaningo olusha mayelana `(CMD)`?
• Ingabe kukhona izivivinyo ezintsha ze-CMD ingane yami engafanelekela ukuzithola?
• Ungancoma iqembu lokusekelana?

Izinto ezibaluleke kakhulu esifuna ukuzithatha ekhaya kule ndaba yilezi:

Kuvamile ukuzizwa ukhungathekile futhi ukhathazekile lapho ingane yakho itholakala ukuthi ine-Congenital Muscular Dystrophy (CMD). Kodwa khumbula, ithimba lezokwelapha lengane yakho lizohlinzeka ngohlelo lokuphatha oluqinile nolwenzelwe wena. Kubalulekile ukuqinisekisa ukuthi wena, ingane yakho, nomndeni wakho nithola ukwesekwa abakudingayo, futhi nihlale nigxile empilweni yengane yakho. Ithimba lezokwelapha lengane yakho lilapha ukuzokusiza, ingane yakho, nomndeni wakho kuzo zonke izinyathelo zendlela. Ungakhathazeki, awuwedwa.

I- Congenital Muscular Dystrophy, i-CMD, ubuthakathaka bemisipha, isifo sofuzo, izifo zobuntwana, i-hypotonia, ukulahlekelwa yimisipha, impilo yengane