Wake wazizwa sengathi ingane yakho encane ibuthakathaka kancane, noma ayisebenzi kahle kunezinye izingane? Mhlawumbe ingane yakho inenkinga yokubamba intamo yayo kahle, noma umzimba wayo uzizwa sengathi ukhululekile? Kujwayelekile ukuthi umzali noma umzali azizwe esaba lapho ebona into efana nale. Namuhla sizokhuluma ngesimo esingavamile esingabangela lezi zimpawu, kodwa esingakhulunywa ngaso kakhulu emphakathini. Lokho yi-Spinal Muscular Atrophy, noma i-SMA ngamafuphi. Ungesabi uma uzwa leli gama. Kulesi sihloko, sizokhuluma ngalesi sifo kalula, ngendlela ongayiqonda.
Iyini ngempela i-SMA?
Kalula nje, i-Spinal Muscular Atrophy (SMA) iyisimo sofuzo (esizuzwe njengefa). Yisifo esihlobene nesimiso sezinzwa. Ngenxa yalesi sifo, eminye imisipha emzimbeni wethu iyabuthaka kancane kancane futhi ibuthaka kancane kancane. Njengoba nje ithuluzi elingasetshenziswanga ligqwala kancane kancane.
Ake sichaze lokhu kakhudlwana. Ubuchopho bethu kanye nomgogodla wethu kuthumela imiyalezo emisipheni yomzimba wethu ukuthi inyakaze. Le miyalezo ithwalwa uhlobo olukhethekile lweseli lemizwa elisebenza njengentambo kagesi. Sibiza lawa ma-neuron aphansi e-motor . Okwenzekayo ku-SMA ukuthi lawa ma-neuron e-motor ayabhujiswa kancane kancane. Ngemuva kwalokho umyalezo ovela ebuchosheni uye emisipheni othi "nyakaza" awutholakali kahle. Uma umyalezo ungamukelwa, imisipha ayisebenzi futhi kancane kancane iba buthaka.
Cabanga ukuthi kuzokwenzekani uma intambo kagesi eya ku-TV yakho ekhaya iphuka? Kungakhathaliseki ukuthi i-TV inhle kangakanani, ngeke isebenze, akunjalo? Kunjalo nalokhu. Ngisho noma imisipha yakho iphilile, uma amangqamuzana ezinzwa athumela imiyalezo kuwo ebhujiswa, imisipha ngeke ikwazi ukusebenza.
Kulesi sifo, imisipha eseduze nendawo ephakathi yomzimba (imisipha eseduze) iba buthaka kakhulu. Isibonelo, izindawo ezifana namahlombe, izinqe, namathanga. Imisipha ekude nendawo ephakathi yomzimba (imisipha ekude), njengeminwe, ayithinteki kakhulu. Lobu buthakathaka buyanda ngokuhamba kwesikhathi.
Yiziphi izinhlobo eziyinhloko ze-SMA?
I-SMA ayifani yonke. Odokotela bayihlukanisa ngezinhlobo ezinhlanu eziyinhloko ngokusekelwe eminyakeni lapho izimpawu ziqala khona, ubukhulu besifo, kanye nesikhathi sokuphila. Ukuqonda lokhu kuhlukaniswa kungakusiza ukuthi usiqonde kangcono lesi sifo.
| Uhlobo lwe-SMA | Ubudala bokuqala kwezimpawu | Izici eziyinhloko kanye nobunzima |
|---|---|---|
| Uhlobo 0 (I-Congenital SMA) | Ngaphambi kokuzalwa (esigabeni sokukhulelwa) | Uhlobo olungavamile nolunzima kakhulu. Ingane ayinyakazi kakhulu esibelethweni. Ubuthakathaka obukhulu bemisipha kanye nokwehluleka kokuphefumula kwenzeka lapho izalwa. Ingane ivame ukufa lapho izalwa noma phakathi nenyanga yokuqala. |
| Uhlobo 1 (Isifo sikaWerdnig-Hoffman) | Izinyanga ezi-6 ezedlule | Cishe ama-60% eziguli ze-SMA awela kulesi sigaba. Ubunzima bokulawula intamo, i-hypotonia , ubunzima bokugwinya, kanye nokuphefumula yizimpawu eziyinhloko. Ngaphandle kokusekelwa kokuphefumula, izingane eziningi ziyafa zingakafiki eminyakeni emi-2. |
| Uhlobo 2 (Isifo saseDubowitz) | Phakathi kwezinyanga ezingu-6 nezingu-18 | Lezi zingane zingahlala phansi, kodwa azikwazi ukuhamba. Ubuthakathaka bemisipha buyanda kancane kancane, ikakhulukazi emilenzeni. Ukwehluleka kokuphefumula kuyimbangela ehamba phambili yokufa. Cishe ama-70% aphila aze abe neminyaka engama-25. |
| Uhlobo 3 (Isifo sikaKugelbert-Welander) | Ngemva kwezinyanga ezingu-18 | Izimpawu zincane. Ubunzima bokuhamba. Izinkinga zokuphefumula azivamile. Ungaphila impilo evamile. |
| Uhlobo 4 (Ukuqala kwabantu abadala) | Ngemva kweminyaka engu-21 | Uhlobo olulula kakhulu. Izimpawu zikhula kancane kakhulu. Iningi labantu lingakwazi ukwenza imisebenzi yalo nokuhamba. Isikhathi sokuphila ngokuvamile asithinteki. |
Kungani lesi sifo se-SMA senzeka? Iyini imbangela?
Njengoba sishilo ngaphambili, lesi yisifo esibangelwa izakhi zofuzo. Lokho kusho ukuthi sibangelwa yiphutha elisezakhini zethu zofuzo.
Kukhona isakhi sofuzo emzimbeni wethu esibizwa ngokuthi i-SMN1 (Survivor Motor Neuron 1) . Umsebenzi oyinhloko walesi sakhi sofuzo ukukhiqiza iphrotheni (iphrotheni ye-SMN) ebalulekile ekusindeni kwama-motor neuron esikhulume ngawo ngaphambili. Umuntu one-SMA une-mutation noma isici kule sakhi sofuzo se-SMN1. Ngakho-ke, umzimba awukhiqizi iphrotheni ye-SMN eyanele. Ngaphandle kwale phrotheni, ama-motor neuron awakwazi ukusinda. Ayancipha kancane kancane futhi afe.
Ngakho-ke iyini i-gene ye-SMN2?
Ngenhlanhla, imizimba yethu inesinye isakhi sofuzo esifana nesakhi sofuzo se-SMN1. Leso isakhi sofuzo se-SMN2 . Lokhu kufana 'nokusekela' kwesakhi sofuzo se-SMN1. Kodwa-ke, lesi sakhi sofuzo se-SMN2 sikhiqiza inani elincane kakhulu leprotheyini ye-SMN.
Ubunzima besifo bunqunywa inani lamakhophi ejini le-SMN2. Uma umuntu enamakhophi amaningi ejini le-SMN2, umzimba wakhela amaprotheni amaningi e-SMN. Ngakho-ke, noma ngabe ijini le-SMN1 alisebenzi, ukuntuleka kwalo kungakhokhelwa ngezinga elithile. Ngakho-ke, izimpawu zalabo abanamakhophi amaningi e-SMN2 zincane kakhulu.
Lesi sifo sizuzwa kanjani yingane?
Lokhu kuzuzwa njengefa ngendlela yokubuyisa i-autosomal . Lokhu kusho ukuthi ukuze ingane ibe nalesi sifo, bobabili umama nobaba kumele bazuze ifa le-SMN1 elinephutha.
Ngokuvamile, bobabili abazali "bangabathwali" - baphethe ikhophi eyodwa yesakhi sofuzo esinephutha. Kodwa abanazo izimpawu ngoba banesakhi sofuzo esisodwa esihle se-SMN1. Uma abazali ababili abathwali besakhi sofuzo benengane,
- Kunethuba elingama-25% lokuthi ingane izoqala ukuba nalesi sifo.
- Kunethuba elingu-50% lokuthi ingane nayo izoba yimthwali walesi sifo.
- Ingane inethuba elingu-25% lokuba nempilo enhle ngaphandle kweziphambeko.
I-SMA ihlolwa kanjani?
Uma ingane yakho isolwa ukuthi ine-SMA, udokotela uzoqala akubuze ngezimpawu zengane yakho kanye nomlando wezokwelapha womndeni. Ngemuva kwalokho bazokwenza ukuhlolwa ngokomzimba nangokwezinzwa.
Ukuhlolwa okuyinhloko kokuqinisekisa ukuba khona kwe-SMA ukuhlolwa kofuzo. Lokhu ukuhlolwa kwegazi okulula. Kungaxilonga ngokunembile i-SMA 95% yesikhathi. Emazweni athuthukile, zonke izinsana ezisanda kuzalwa manje zihlolwa lesi sifo.
Ngezinye izikhathi izimpawu ze-SMA zingafana nezinye izifo ze-neuromuscular, njenge-muscular dystrophy. Ngakho-ke uma udokotela wakho engasoli ngokushesha i-SMA, angase acele ezinye izivivinyo ukuthola imbangela, njenge:
- Ukuhlolwa kwegazi kwe-Creatine Kinase (CK): Le enzyme inqwabelana egazini lapho imisipha yonakele. Kodwa-ke, amazinga e-CK avame ukukhuphuka ku-SMA.
- Ucwaningo lwe-Electromyogram (EMG) kanye ne-Nerve Conduction:Lezi zivivinyo zilinganisa umsebenzi kagesi wemisipha kanye nemizwa.
- Ukuhlolwa Kwemisipha: Lokhu akusenziwa njalo. Lapha, kuthathwa ingxenye encane yemisipha bese ihlolwa.
Ingabe lokhu kungatholakala ngesikhathi sokukhulelwa?
Yebo. Uma othile emndenini wakho ene-SMA, ungahlola ingane yakho engakazalwa ukuthi ayinaso lesi sifo ngesikhathi sokukhulelwa. Kunezivivinyo ezimbili eziyinhloko:
1. I-Amniocentesis: Kule nqubo, inani elincane loketshezi lwe-amniotic oluzungeze umntwana esibelethweni likhishwa ngesirinji bese lihlolwa ngofuzo.
2. Ukusampula Kwe-Chorionic Villus (CVS): Lapha, kuthathwa ingcezu encane yezicubu ku-placenta bese ihlolwa.
Yiziphi izindlela zokwelapha i-SMA?
Ngeshwa, alikho ikhambi le-SMA okwamanje. Kodwa ungakhathazeki. Kunezinto eziningi ongazenza ukulawula izimpawu, ukuvimbela izinkinga, nokwenza impilo yengane yakho ibe lula. Ngaphezu kwalokho, kube nemithi ephumelela kakhulu etholakale muva nje engashintsha indlela lesi sifo esiqhubeka ngayo.
Ukwelashwa kungahlukaniswa izingxenye ezimbili eziyinhloko:
1. Ukuphathwa kwezimpawu kanye nokunakekelwa okusekelayo
Lokhu kwenzelwe ukunciphisa ukungakhululeki okubangelwa yilesi sifo nokusiza ingane ukuba iphile impilo engcono kakhulu.
- Ukwelashwa ngokomzimba: Kusiza ukugcina ukuma okufanele, ukuvimbela ukuqina kwamalunga, kanye nobuthakathaka bemisipha obuhamba kancane.
- Ukwelashwa Kwabasebenzi: Kusiza ingane ukuthi yenze imisebenzi yansuku zonke ngokuzimela.
- Amadivayisi okusiza: Kungase kudingeke usebenzise izinsiza ezahlukahlukene, njengezinsika zokusekela, izinduku zokuqhugela, izinqola zokuhamba, kanye nezihlalo zabakhubazekile.
- Ukwelapha ukukhuluma nokugwinya: Kusiza ngobunzima bokukhuluma nokugwinya.
- Ipayipi lokuphakela: Uma ukugwinya kunzima kakhulu noma kuyingozi, ipayipi lingafakwa ngekhala noma esiswini ngqo esiswini.
- Ukusiza ekuphefumuleni: Uma kuvela ubunzima bokuphefumula, kumele kusetshenziswe imishini ekhethekile (ama-ventilator).
2. Imithi eshintsha indlela isifo esiqhubeka ngayo
Kusukela ngo-2016, kuye kwaziswa imithi eminingana eye yashintsha kakhulu ukwelashwa kwe-SMA. Lokhu kungashintsha kakhulu indlela lesi sifo esiqhubeka ngayo.
- Ukwelapha Okuguqula Izifo: Le mithi isebenza ngokuvuselela i-gene 'yokusekelayo' esikhulume ngayo ngaphambilini, i-gene ye-SMN2, futhi ibangele ukuthi ikhiqize iphrotheni ye-SMN eningi. I-Nusinersen (Spinraza®) kanye ne-Risdiplam (Evrysdi®) yilolu hlobo lomuthi.
- Ukwelashwa Kokufaka Izakhi Zofuzo: Lena indlela yokwelapha ethuthuke kakhulu.Umuthi i-onasemnogene abeparvovec-xioi (Zolgensma®) uthatha indawo yesakhi sofuzo se-SMN1 esilahlekile noma esinephutha ngesakhi sofuzo se-SMN1 esisebenzayo. Lokhu ukwelashwa okwenziwa kanye kuphela okunikezwa ngemithambo yegazi (IV).
Okubaluleke kakhulu, lezi zindlela zokwelapha ezintsha zisebenza kahle kakhulu uma ziqalwa ngaphambi kokuba kuvele izimpawu, noma zisesigabeni sokuqala. Yingakho ukuxilongwa kusenesikhathi kubaluleke kangaka.
Ukuqhubeka kwesifo se-SMA kanye nezinkinga ezingaba khona
Ngokuhamba kwesikhathi, ubuthakathaka bemisipha bungabangela izinkinga ezahlukahlukene.
- I-Scoliosis , ukuqhekeka kwesinqe, ukuphuka kwamathambo.
- Ukungondleki kahle kanye nokuphelelwa amanzi emzimbeni ngenxa yobunzima bokugwinya ukudla.
- Izifo zesifuba ezifana ne -aspiration pneumonia ezibangelwa ukudla okungena endleleni yokuphefumula.
- Ubuthakathaka bamaphaphu kanye nobunzima bokuphefumula.
Isikhathi sokuphila kwengane ene-SMA siyahlukahluka kakhulu kuye ngohlobo lwesifo. Ezinhlotsheni 3 no-4, isikhathi sokuphila ngokuvamile asithinteki kakhulu. Ezimweni ezimbi kakhulu njengohlobo 1, izinselele zinkulu. Kodwa-ke, ngokwelashwa okusha okuqalisiwe, isikhathi sokuphila kanye nekhwalithi yokuphila, ikakhulukazi ezinganeni zohlobo 1, manje sekukhule kakhulu. Ngakho-ke, umuntu ongcono kakhulu ukwazi ulwazi olunembile ngesimo sengane yakho udokotela wakho.
Umlayezo Wokuya Nawe Ekhaya
- I-SMA yisifo esizuzwe njengefa esilimaza amangqamuzana ezinzwa athwala imiyalezo esuka ebuchosheni iye emisipheni.
- Ubunzima besifo buyahlukahluka kuye ngohlobo (Uhlobo 0 kuya ku-4).
- Uma ingane yakho inezimpawu ezifana nokudinwa, ukungasebenzi kahle, noma ubunzima bokulawula intamo yayo, kubaluleke kakhulu ukubona udokotela ngokushesha.
- Namuhla, kunemithi yesimanje esebenza kahle kakhulu engashintsha inkambo ye-SMA. Uma ukwelashwa kuqalwa ngokushesha, imiphumela iba ngcono.
- Ukuphatha lesi sifo kudinga ukwesekwa yithimba lezokunakekelwa kwempilo, okuhlanganisa odokotela, abelaphi bomzimba, kanye nabelaphi bomsebenzi.
- Kuvamile ukuzizwa wesaba futhi ukhathazekile lapho ufunda nge-SMA. Unganqikazi ukuthola ukwesekwa ngokomzwelo okudingayo wena nomndeni wakho.
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