Uke waphawula ukuthi ingane yakho encane iyazabalaza futhi ayishukumisi imilenze yayo njengezinye izingane? Ingabe kunzima ngayo ukubamba intamo yayo iqonde? Noma ingabe ingane yakho endala ibonakala inenkinga yokuhamba, ukugijima, noma ukugxuma, futhi ingabe umzimba wayo uya uba buthakathaka? Kuvamile kakhulu kuwe, njengomama noma ubaba, ukuzwa ukwesaba nokukhathazeka uma ubona lezi zinto. Namuhla sikhuluma ngesifo esingadala izimpawu ezinjalo, kodwa okungakhulunywa ngaso kakhulu ezweni lakithi, kodwa kubaluleke kakhulu ukuqaphela. Leso yi -Spinal Muscular Atrophy , esibizwa ngokuthi odokotela (SMA) ngamafuphi.
Kalula nje, iyini le SMA?
I-Spinal Muscular Atrophy (SMA) yisifo esibangelwa yizakhi zofuzo (esizuzwe njengefa) . Okusho ukuthi, yinto edluliselwa kubazali eya ezinganeni. Lesi sifo sithinta isimiso sezinzwa somzimba wethu, okwenza imisipha yethu ibe buthaka kancane kancane futhi iphele. Lokhu sikubiza ngokuthi i-atrophy kwisayensi yezokwelapha.
Ake sikuqonde lokhu kalula. Cabanga ukuthi imisipha emzimbeni wethu ifana nama-bulb okukhanya. Ukuze la ma-bulb akhanye, ugesi udinga ukuvela ku-switch ngentambo. Ngendlela efanayo, imiyalezo evela ebuchosheni bethu (njengogesi) idinga ukuya emisipheni (ama-bulb) ngohlobo olukhethekile lweseli lemizwa (lawa afana nentambo) emgogodleni. Sibiza la ma-nerve cell akhethekile ngokuthi ama-neuron aphansi e-motor .
Ku-SMA, amangqamuzana ezinzwa (ama-motor neurons) emgogodleni ayafa kancane kancane. Bese kuthi imiyalezo evela ebuchosheni ingafinyeleli emisipheni. Umphumela uba yini? Imisipha ayitholi imiyalezo yokusebenza, ngakho-ke kancane kancane iba buthaka futhi inciphe.
Lobu buthakathaka buvame ukuthinta imisipha eseduze nendawo ephakathi yomzimba. Isibonelo, imisipha emahlombe, ezinqeni, nasemathangeni ingase ibe buthaka ngokushesha kunemisipha ekude kakhulu, njengeminwe nezinzwane.
Yiziphi izinhlobo eziyinhloko ze-SMA?
I-SMA ayifani yonke. Odokotela bayihlukanisa ngezinhlobo ezi-5 eziyinhloko ngokusekelwe eminyakeni lapho izimpawu ziqala khona, ubukhulu besifo, kanye nobude bokuphila. Ukuqonda lokhu kuhlukaniswa kungakusiza ukuthi uqonde kangcono lesi sifo.
| Uhlobo lwe-SMA | Ubudala bokuqala kwezimpawu | Imvelo kanye nezici eziyinhloko zalesi sifo |
|---|---|---|
| Uhlobo 0 | Ngaphambi kokuzalwa (esigabeni sokukhulelwa) | Lolu uhlobo olungavamile nolunzima kakhulu. Ukunyakaza komntwana kuyancishiswa ngesikhathi esesesibelethweni sikanina. Ubuthakathaka obukhulu bemisipha kanye nokucindezeleka okukhulu kokuphefumula kwenzeka ngesikhathi sokuzalwa. Umntwana uvame ukufa ngesikhathi sokuzalwa noma phakathi nenyanga yokuqala. |
| Uhlobo 1 (Isifo sikaWerdnig-Hoffman) | Izinyanga ezi-6 ezedlule | Cishe ama-60% eziguli ezine-SMA akulolu hlobo. Intamo ayikwazi ukuqondiswa kahle. Umzimba ubonakala ungaphili (hypotonia). Kunzima ukugwinya nokuphefumula. Akunakwenzeka ukuhlala phansi ngaphandle kosizo. Ngaphandle kokusekelwa kokuphefumula, izingane eziningi ziyafa zingakafiki eminyakeni emibili. |
| Uhlobo 2 (Isifo saseDubowitz) | Phakathi kwezinyanga eziyi-6 kuya kweziyi-18 | Ubuthakathaka bemisipha buyanda kancane kancane. Buthinta imilenze kakhulu kunezingalo. Nakuba laba bantwana bekwazi ukuhlala phansi, abakwazi ukuhamba. Inkinga enkulu yokuphefumula. Ngokunakekelwa okufanele kwezokwelapha, bangaphila iminyaka engaba ngu-25-30. |
| Uhlobo 3 (Isifo sikaKugelbert-Welander) | Ngemva kwezinyanga ezingu-18 | Lolu uhlobo oluthambile. Lubangela ubunzima bokuhamba ngenxa yobuthakathaka bemisipha yemilenze. Ngokuvamile akukho ukucindezeleka kokuphefumula. Isikhathi sokuphila asithinteki. |
| Uhlobo 4 (Omdala) | Ngemva kweminyaka engama-21 | Lolu uhlobo oluthambile kakhulu. Izimpawu zikhula kancane kakhulu. Nakuba kukhona ubuthakathaka bemisipha, abantu abaningi bayaqhubeka nokukwazi ukuhamba. Isikhathi sokuphila asithinteki. |
Kungani lesi sifo se-SMA senzeka?
Lokhu kupheleleIsifo esibangelwa izakhi zofuzo . Okusho ukuthi, asibangelwa yisici sendawo noma ukutheleleka.
Uhlobo olukhethekile lweprotheyini lubalulekile ukugcina ama-motor neuron emizimbeni yethu ephilile. I-gene eyinhloko eqondisa ukukhiqizwa kwale protheyini yi -gene ethi `SMN1` (survivor motor neuron 1) . Ingane ene-SMA inesici kule gene ethi `SMN1`. Ngakho-ke, iphrotheyini edingekayo ayikhiqizwa emzimbeni.
Kodwa, ngenhlanhla, sinesinye isakhi sofuzo 'esisizayo' emzimbeni wethu esenza ingxenye encane yale phrotheni, isakhi sofuzo i-'SMN2' . Kodwa senza inani elincane kakhulu laso. Ubunzima besifo buyahlukahluka kuye ngenani lamakhophi esakhi sofuzo i-'SMN2' umuntu anaso. Uma inani lamakhophi e-'SMN2' liphezulu, izimpawu zingase zingabi zimbi kakhulu. Yingakho abanye abantu benesifo esibi njengohlobo 1, kanti abanye benesifo esibi njengohlobo 4.
Lesi sifo sizuzwa kanjani njengefa?
I-SMA izuzwe njengefa ngendlela ye -autosomal recessive pattern. Lokhu kungase kuzwakale njengegama eliyinkimbinkimbi, kodwa limane lithi:
- Ukuze ingane ibe ne-SMA, ingane kumele ithole ifa lofuzo olunephutha lwe-`SMN1` kumama nakubaba.
- Ezimweni eziningi, bobabili abazali bamane nje 'bathwali' balesi sakhi sofuzo esinephutha. Lokhu kusho ukuthi abanazo izimpawu, kodwa banekhophi eyodwa yalesi sakhi sofuzo esinephutha emzimbeni wabo.
- Njalo uma abazali ababili abathwala ingane beba nengane, kunethuba elingu-25% lokuthi ingane izoba ne-SMA.
I-SMA ihlolwa kanjani?
Uma ucabanga ukuthi ingane yakho ingaba nezimpawu ze-SMA, into yokuqala okufanele uyenze ukubona udokotela ofanelekayo. Udokotela uzokubuza ngezimpawu zengane yakho futhi ahlole ingane yakho ngokucophelela.
Indlela eyinhloko nenembile kakhulu yokuqinisekisa i-SMA iwukuhlola izakhi zofuzo.
- Ukuhlolwa kofuzo: Lokhu ukuhlolwa kwegazi okulula okungabona ngokunembile ama-95% eziguli ze-SMA ngokubona iphutha ku-gene ethi `SMN1`.
- Ezinye izivivinyo: Ngezinye izikhathi, uma izimpawu zifana nezinye izifo zezinzwa, udokotela angase ancome ezinye izivivinyo.
- Ukuhlolwa kwegazi kwe-Creatine kinase (CK): Le enzyme iphakeme kwezinye izifo ezilimaza imisipha. Kodwa-ke, ku-SMA, kuvame ukuba yinto evamile.
- I-Electromyogram (EMG): Ukuhlolwa okulinganisa umsebenzi kagesi wemisipha nezinzwa.
- Ukuhlolwa kwemisipha: Akuvamile kakhulu ukuthi kuthathwe ingxenye encane yemisipha ukuze iyohlolwa.
Ingabe lokhu kungatholakala ngesikhathi sokukhulelwa?
Yebo. Uma kunomlando we-SMA emndenini wakho noma uma wena nomlingani wakho naziwa ukuthi ningabathwali balesi sifo, ningayihlola ingane yakho ukuze nithole ukuthi inesifo yini ngesikhathi sokukhulelwa.
- I-Amniocentesis:Ngemva kwamasonto ayi-14 okukhulelwa, inaliti encane kakhulu idluliselwa esiswini sikamama bese kuthathwa isampula encane yoketshezi lwe-amniotic oluzungeze umbungu ukuze luhlolwe.
- I-Chorionic villus sampling (CVS): Inqubo ehilela ukuthatha ingxenye encane yezicubu ku-placenta bese uyihlola emavikini ayi-10 okukhulelwa.
Ungafunda kabanzi ngalezi zivivinyo ngokukhuluma nodokotela wakho.
Yiziphi izindlela zokwelapha i-SMA?
Ngeshwa, alikho ikhambi le-SMA okwamanje. Kodwa ungalilahli ithemba. Izinto zihluke kakhulu namuhla kunaseminyakeni eyi-10 edlule. Kunezinto eziningi ongazenza ukulawula izimpawu, ukuthuthukisa ikhwalithi yokuphila kwengane yakho, nokuvimbela izinkinga. Ngaphezu kwalokho, ukwelashwa okusha, okuphumelelayo kakhulu sekutholakale muva nje okungashintsha indlela isifo esiqhubeka ngayo.
1. Ukuphathwa kwezimpawu kanye nezinsizakalo zokusekela
Lokhu kwenza impilo yansuku zonke ibe lula enganeni futhi kuyisize ihlale iqinile.
- Ukwelashwa ngokomzimba: Kusiza ukuqinisa imisipha, ukuvimbela ukuqina kwamalunga, nokugcina ukuma okufanele.
- Ukwelashwa Komsebenzi: Kusiza ingane ukuthi yenze imisebenzi yansuku zonke ngokuzimela, njengokudla nokugqoka.
- Amadivayisi okusiza: Izinto ezifana nezihlalo zabakhubazekile, izihlalo zabakhubazekile, kanye nezinsimbi zokuqinisa ukuze umhlane wakho uhlale uqondile.
- Ukwelapha ukukhuluma nokugwinya: Kusiza izingane ezinenkinga yokugwinya ukuthi zifunde ukudla ngokuphephile.
- Ukondla: Uma ukugwinya kunzima kakhulu, kufakwa ipayipi lokuncelisa ngekhala noma ngesisu ngqo esiswini.
- Ukusekelwa kokuphefumula: Kusetshenziswa imishini ekhethekile (umoya osizwayo) uma kunenkinga yokuphefumula.
2. Ukwelashwa kwemithi yesimanje
Lezi yizinto ezishintshe kakhulu ukwelashwa kwe-SMA. Zibhekana nembangela eyinhloko yalesi sifo, ukuntuleka kwamaprotheni.
- Ukwelapha okuguqula izifo: Le mithi ivuselela isakhi sofuzo esisizayo esibizwa ngokuthi `SMN2`, okubangela ukuthi sikhiqize iphrotheni ye-SMN eningi.
- I-Nusinersen (i-Spinraza®): Lona umuthi ofakwa oketshezini oluzungeze umgogodla.
- I-Risdiplam (Evrysdi®): Lona umuthi ophuzwa nsuku zonke.
- Ukwelashwa kokufaka esikhundleni sezakhi zofuzo:
- I-Onasemnogene abeparvovec-xioi (Zolgensma®): Lona omunye wemithi ebiza kakhulu emhlabeni. Usebenza ngokufaka esikhundleni se-gene ye-SMN1 enephutha nge-gene ye-SMN1 enempilo nesebenzayo. Kuwukufakwa kwe-intravenous (IV) okufakwe kanye kuphela ezinganeni ezingaphansi kweminyaka emi-2 ubudala.
Lezi zindlela zokwelapha ezintsha ziye zabonakala zisebenza kahle kakhulu, ikakhulukazi uma zinikezwa ngaphambi noma ezigabeni zokuqala zezimpawu.
Imibuzo okufanele uyibuze udokotela wakho
Kuvamile ukuba nemibuzo eminingi engqondweni yakho uma uthola ukuthi ingane yakho ine-SMA. Ungagodli lutho, buza udokotela wakho.
- Hlobo luni lwe-SMA ingane yami enalo?
- Yisiphi isimo esingasilindela esikhathini esizayo ngokwalolu hlobo?
- Yikuphi ukwelashwa okungcono kakhulu enganeni yami?
- Ingabe ikhona imiphumela emibi kulezi zindlela zokwelapha?
- Ingabe amanye amalungu omndeni wethu noma ingane yethu elandelayo isengozini yokuthola lesi sifo? Ingabe kufanele sihlole izakhi zofuzo?
- Yikuphi ukunakekelwa okuqhubekayo ingane edingayo?
- Yiziphi izimpawu zezinkinga okufanele ngiziqaphele ngokukhethekile?
Ukubhekana nokuxilongwa kwe-SMA kungaba yinselele. Kodwa khumbula, awuwedwa. Ngeseluleko sezokwelapha esifanele, ukwelashwa, kanye nothando nokusekelwa komndeni, unganika ingane yakho impilo engcono kakhulu.
Umlayezo Wokuya Nawe Ekhaya
- I-Spinal Muscular Atrophy (SMA) yisifo sofuzo esizuzwe kubazali. Sithinta amangqamuzana ezinzwa emgogodleni, kancane kancane senza imisipha ibe buthaka.
- Kunezinhlobo eziningana kuye ngokuthi isifo sibucayi kangakanani. Uhlobo 1 luyisifo esibi kakhulu kanti uhlobo 4 luyisifo esilula kakhulu.
- Uma ubona izimpawu ezinjengokwehla kokunyakaza, ubunzima bokubamba intamo, noma ukudinwa enganeni, funa iseluleko sezokwelapha ngokushesha.
- Ukuhlolwa kwezakhi zofuzo kungaqinisekisa ngokunembile lesi sifo.
- Nakuba lesi sifo singelapheki ngokuphelele, izindlela zokwelapha zesimanje ezifana neZolgensma® kanye neSpinraza® zingayishintsha ngokuphelele indlela lesi sifo esiqhubeka ngayo, zithuthukise kakhulu isikhathi sokuphila kwengane kanye nekhwalithi yokuphila.
- Izinsizakalo zokusekela ezifana nokwelashwa ngokomzimba kanye nokwelashwa ngokomsebenzi zibalulekile ekuphathweni kwengane.
- Khuluma ngokukhululekile nodokotela owelapha ingane yakho bese ubuza yonke imibuzo.
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