Wake waphawula ukuthi ingane yakho iyantengantenga, noma ukuthi iyephuza ukuphakamisa ikhanda layo noma ukugoba njengezinye izingane? Ngezinye izikhathi, kuyinto evamile ngathi njengabazali ukukhathazeka kancane lapho sibona ingane encane igijima, iwela, noma inenkinga yokukhuphuka izitebhisi. Nakuba lezi zimpawu zingezona njalo uphawu lokuthile okungathi sína, ngezinye izikhathi kunesimo esingavamile ngemuva kwazo okufanele sisiqaphele. Lokho ukuntengantenga kwemisipha yomgogodla, noma lokho esikubiza ngokwezokwelapha ngokuthi ' i-Spinal Muscular Atrophy (SMA)'.
Kalula nje, iyini le SMA?
I-Spinal Muscular Atrophy (SMA) yisimo esingavamile sofuzo esibangela ukuba imisipha yokuzithandela, okuyimisipha esiyilawulayo ukuthi inyakaze, ibuthaka kancane kancane. Ithinta kakhulu amangqamuzana ezinzwa engxenyeni engezansi yomgogodla wethu.
Cabanga ngale ndlela. Ubuchopho bethu kanye nomgogodla wethu kuthumela isignali kagesi, noma umlayezo, emisipheni yethu ukuze "inyakaze." Lo myalezo uthwalwa amangqamuzana emizwa akhethekile abizwa ngokuthi ama-motor neurons. Ukuze lawa mangqamuzana emizwa agcine ephilile, iphrotheni ebizwa ngokuthi "i-Survival Motor Neuron" (SMN) ekhiqizwa yi-gene ebizwa ngokuthi i-SMN1 ibalulekile.
Kumuntu one-SMA, ngenxa yephutha ku-gene ethi `SMN1`, iphrotheni ethi `SMN` ayikhiqizwa ngenani elidingekayo. Uma le phrotheni ilahlekile, amangqamuzana ezinzwa (ama-motor neurons) athwala leyo miyalezo ayafa kancane kancane. Ngemuva kwalokho imisipha ayitholi izimpawu ezidingekayo. Imisipha engasetshenziswa kancane kancane iyancipha futhi iba buthakathaka. Yilokhu esikubiza ngokuthi i-muscle atrophy .
Into ebalulekile ukuthi i-SMA ayithinti ukuhlakanipha kwengane, ukuqonda, noma uzwela . Bayaqonda futhi bazwe umhlaba ozungezile kahle. Yimisipha nje ebuthakathaka.
Yiziphi izimpawu nezinhlobo ze-SMA?
Izimpawu ze-SMA ziyahlukahluka kumuntu nomuntu. Ziya ngokuthi kukhiqizwa iprotheni engakanani 'ye-SMN' emzimbeni. Ngaphezu kwe-gene eyinhloko ebizwa ngokuthi 'i-SMN1', sine-gene 'esizayo' ebizwa ngokuthi 'i-SMN2'. Le gene 'ye-SMN2' ikhiqiza nenani elithile leprotheni 'ye-SMN'. Uma umuntu enamakhophi amaningi e-gene 'ye-SMN2', izimpawu ziba zincane.
I-SMA ihlukaniswe ngezinhlobo ezi-5 eziyinhloko ngokusekelwe eminyakeni lapho izimpawu zivela khona.
| Uhlobo lwe-SMA | Ubudala bokuqala kwezimpawu | Izimpawu ezivamile |
|---|---|---|
| Uhlobo 0 | Ngaphambi kokuzalwa (esigabeni sokukhulelwa) | Ukuncipha kokunyakaza kombungu, ubuthakathaka obukhulu bemisipha ekuzalweni, ukuphelelwa ngamandla komzimba, ubunzima bokuphefumula, kanye nesifo senhliziyo sokuzalwa. Lolu uhlobo olungavamile nolubi kakhulu. |
| Uhlobo 1 (Isifo sikaWernig-Hoffman) | Kusukela ekuzalweni kuya ezinyangeni ezi-6 | Ukungakwazi ukubamba ikhanda liqonde, ukungakwazi ukuhlala ngaphandle kosizo, izitho zomzimba ezibuthakathaka, ubunzima bokuncela nokugwinya, ukukhala okubuthakathaka, ubunzima bokuphefumula (isifuba esimise okwensimbi). |
| Uhlobo 2 (Isifo saseDubowitz) | Kusukela ezinyangeni ezi-3 kuya kweziyi-15 | Ukukwazi ukuhlala phansi ngosizo noma ngaphandle kwalo (kodwa kungase kubambezeleke), ukungakwazi ukuma noma ukuhamba ngaphandle kosizo, ukuba nomhlane ogobile (i-scoliosis), ubunzima bokuphefumula. |
| Uhlobo 3 (Isifo saseKugelberg-Welander) | Kusukela ezinyangeni ezingu-18 kuya ebudaleni obusha | Ukukwazi ukuhamba, kodwa kunzima ukugijima, ukukhuphuka izitebhisi, ukuwa njalo, ukudinga usizo lokuphuma esihlalweni. Isihlalo sabakhubazekile singadingeka njengoba ukhula. |
| Uhlobo 4 | Lapho umuntu esemdala (ngemva kweminyaka engama-30 ubudala) | Zonke izinyathelo zokukhula zivamile, ubuthakathaka obuncane bemisipha (ikakhulukazi emilenzeni), kanye nomuzwa wokunyakazisa imisipha. Isihlalo sabakhubazekile asidingeki. |
Yini ebangela i-SMA?
I-SMA yisimo sofuzo esidluliselwa kusuka esizukulwaneni kuya kwesinye. Uma sikhuluma iqiniso, sizuzwa njengesici 'se-autosomal recessive'. Kusho ukuthini lokho?
Kalula nje, ukuze ingane ibe ne-SMA, bobabili abazali kumele bazuze ikhophi yesakhi sofuzo se-SMN1 esinephutha. Uma umzali oyedwa kuphela ezuza isakhi sofuzo esinephutha, ingane ngeke ibe ne-SMA. Kodwa-ke, ingane izoba "ngumthwali" walesi sifo. Lokhu kusho ukuthi ingane ngeke ibe nezimpawu, kodwa isazokwazi ukudlulisela isakhi sofuzo esinephutha ezinganeni zayo esikhathini esizayo.
Indlela yokuxilonga lesi sifo ngokunembile?
Njengamazwe amaningi namuhla, izinsana ezisanda kuzalwa ngezinye izikhathi zihlolwa izifo zofuzo ezifana nalezi eSri Lanka. Kodwa-ke, ngezinye izikhathi, ikakhulukazi lezo ezinezimpawu ezincane, zitholakala kamuva.
Uma unenkinga ethile ngengane yakho, udokotela angase akubuze imibuzo efana nale uma umbona:
- Ingabe ingane yakho iphuze ukudlula izigaba zokukhula ezifana nokuphakamisa ikhanda layo nokugingqika?
- Ingabe kunzima ngengane ukuhlala noma ukuma yodwa?
- Uke waqaphela ukuthi kukhona ubunzima bokuphefumula?
- Uqale nini ukuqaphela lezi zimpawu?
- Ingabe ukhona emndenini wakho oke waba nalezi zimpawu ngaphambili?
Ngaphezu kwale mibuzo, kungenziwa izivivinyo ezilandelayo ukuqinisekisa lesi sifo:
- Ukuhlolwa kofuzo: Kuthathwa isampula yegazi bese kuhlolwa i-gene ethi `SMN1` ngokuqondile ukuze kubonakale ukuthi inephutha noma ayikho. Lolu ukuhlolwa okuyinhloko ukuqinisekisa lesi sifo.
- Ukuhlolwa kwegazi kwe-Creatine Kinase (CK): Lapho imisipha iba buthakathaka, i-enzyme ebizwa ngokuthi i-CK iyanqwabelana egazini. Uma lokhu kuphezulu, kungasolwa ukuthi kukhona ukulimala kwemisipha.
- Ukuhlolwa Kwezinzwa : Ukuhlolwa okufana ne-Electromyogram (EMG) kuhlola ukuthi izinzwa zithumela kanjani izimpawu emisipheni.
- I-MRI noma i-CT scan: Thola izithombe ezinemininingwane zangaphakathi lomzimba, ikakhulukazi umgogodla nemisipha.
- I-Muscle Biopsy: Ngezinye izikhathi, ingxenye encane yemisipha iyathathwa bese ihlolwa ngaphansi kwe-microscope ukuqinisekisa uhlobo lomonakalo.
Yiziphi izindlela zokwelapha i-SMA?
Eminyakeni eyishumi kuya kweyishumi nanhlanu edlule, i-SMA yayinezindlela zokwelapha ezisekelayo kuphela ezazilawula izimpawu. Kodwa-ke, namuhla, ngokuthuthuka kwesayensi yezokwelapha, kunezindlela zokwelapha eziningana eziphumelela kakhulu emhlabeni ezihlose inkinga yezakhi zofuzo ebangela i-SMA.
1. Ukunakekelwa Okusekelayo
Nakuba lezi zingasiqedi lesi sifo, zibalulekile ekuthuthukiseni ikhwalithi yempilo yengane.
- Ukusekelwa kokuphefumula: Ikakhulukazi ezinhlotsheni 1 no-2, njengoba imisipha yokuphefumula iba buthakathaka, kungadingeka imaski ekhethekile noma, ezimweni ezimbi kakhulu, umshini (i-ventilator) ukusiza ngokuphefumula.
- Ukudla Okunomsoco Nokugwinya: Ngenxa yokuthi imisipha yokugwinya ibuthakathaka, usizo lochwepheshe wezokudla luyadingeka ukuqinisekisa ukuthi ingane ithola ukudla okunomsoco okuhle. Ezinye izingane zidinga ukuphiwa ukudla ngepayipi lokuncelisa.
- Ukunyakaza kanye nokwelapha ngokuzivocavoca: Ukuzivocavoca ngokuzivocavoca kungasiza ekuvikeleni amalunga futhi kugcine imisipha iqinile. Uma kudingeka, ungase ukwazi ukusebenzisa izinsimbi zokubopha imilenze, i-walker, noma isihlalo sabakhubazekile sikagesi.
- Izinkinga zomhlane: Ezinganeni ezine-scoliosis, udokotela angase atuse ukugqoka i-corset ekhethekile (i-back brace) ukuze umhlane ugcine umhlane uqondile.
2. Ukwelashwa Okuqondiswe Kuzakhi Zofuzo
Lezi yizidakamizwa ezishintshe kakhulu ukwelashwa kwe-SMA.
- I-Nusinersen (i-Spinraza): Lo muthi unikezwa njengomjovo oketshezini lomgogodla. Usebenza ngokuvuselela i-gene "helper", i-SMN2, esikhulume ngayo ngaphambilini, futhi ubangele ukuthi yenze iphrotheni ye-SMN eningi. Kudingeka ithathwe njalo ezinyangeni ezimbalwa.
- I-Onasemnogene abeparvovec-xioi (Zolgensma): Lokhu ukwelashwa kwezakhi zofuzo okunikezwa ngemithambo yegazi kanye. Kuthatha indawo yezakhi zofuzo ze-SMN1 ezinephutha ngekhophi enempilo yezakhi zofuzo ze-SMN1. Ngokuvamile kunikezwa izingane ezingaphansi kweminyaka emi-2 ubudala.
- I-Risdiplam (Evrysdi): Lona umuthi ophuzwa nsuku zonke ophuzwayo osebenza ngokwandisa ukukhiqizwa kwephrotheni ethi `SMN` evela ku-`SMN2` gene.
Nakuba lokhu kwelashwa kubiza kakhulu, kuye kwabonakala kuthuthukisa kakhulu izigaba zokukhula kwezingane (ukubamba ikhanda, ukuhlala phansi) nokulawula ukuqhubeka kwesifo. Kufanele uxoxe nodokotela wakho ukuthi yikuphi ukwelashwa okungcono kakhulu enganeni yakho.
Umlayezo Wokuya Nawe Ekhaya
- I-SMA yisifo esibangelwa izakhi zofuzo esenza imisipha ibe buthaka. Kodwa-ke, ayithinti ukuhlakanipha kwengane .
- Ubukhali bezimpawu buyahlukahluka kuye ngohlobo. Ezinye izingane ziba nezimpawu lapho zizalwa, kanti ezinye azibi nezimpawu kuze kube yilapho sezikhulile.
- Ukuze ingane ibe ne-SMA, kumele ithole ifa lofuzo olunephutha kunina nakuyise .
- Namuhla, kunezindlela zokwelapha zesimanje ezihlose inkinga yezakhi zofuzo ebangela lesi sifo. Lezi zingalawula lesi sifo futhi zithuthukise ikhwalithi yokuphila.
- Ukunakekela ingane ene-SMA kuwumzamo weqembu. Kudinga ukwesekwa kwethimba lochwepheshe , okuhlanganisa odokotela bezinzwa, odokotela bamaphaphu, odokotela be-physiotherapists kanye nodokotela bezokudla.Kubalulekile. Awuwedwa, futhi ungesabi ukucela usizo.
- Uma unenkinga ngokukhula noma ukunyakaza kwengane yakho, khuluma nodokotela wakho ngokushesha . Uma lesi sifo sitholakala ngokushesha, ukwelashwa kungaba yimpumelelo enkulu.
💬 Comments (0)
Awekho amazwana athunyelwe okwamanje. Faka amazwana akho lapha okokuqala ngqa.
Engeza amazwana akho