Wake waphawula ukuthi othile emndenini wakho, mhlawumbe umama noma ubaba wakho, noma othile omaziyo, ngokuzumayo ulahlekelwa ukulawula izitho zakhe? Kungenzeka ukuthi uke waphawula izinto ezifana nokuthuthumela okuncane, ngezinye izikhathi ukukhubeka nje, izinto eziwela phansi, noma ubunzima bokulawula imizwa efana nentukuthelo nokudabuka. Nakuba lezi zinto zingase zibonakale njengezinto ezincane ngaphandle, isizathu sazo ngezinye izikhathi singaba sibi kakhulu. Namuhla sizokhuluma ngesifo esibangela izimpawu ezifanayo, kodwa abantu abaningi ezweni lethu abangakaze bezwe ngaso. Leso yiSifo sikaHuntington.
Kalula nje, siyini isifo sikaHuntington?
Isifo sikaHuntington siyisifo sofuzo esithinta ubuchopho, ikakhulukazi amangqamuzana ezinzwa. Sithinta izingxenye zobuchopho ezilawula ukunyakaza kanye nenkumbulo.
Cabanga ngomzimba wethu njengekhompyutha. Ubuchopho buyisikhungo sawo esiyinhloko sokulawula. Lapho lesi sifo siqala, ezinye zezinhlelo kuleso sikhungo sokulawula ziyaphela. Bese izinto ezifana nokunyakaza komzimba, imizwa, kanye nokucabanga kuqala ukuphela. Ngokuhamba kwesikhathi, lezi zimpawu ziyanda kancane kancane, hhayi ukwehla.
Ingabe kukhona izinhlobo zalesi sifo?
Yebo, kunezinhlobo ezimbili eziyinhloko zesifo sikaHuntington.
1. Ukuqala kokugula kwabantu abadala: Lolu uhlobo oluvame kakhulu. Izimpawu zivame ukuqala ukuvela ngemva kweminyaka engama-30.
2. Isifo sikaJuvenile Huntington: Lolu uhlobo olungavamile kakhulu. Luthinta izingane kanye nabantu abadala abasebasha.
Ziyini izimpawu zesifo sikaHuntington?
Lesi sifo sithinta imizimba yethu kanye nengqondo yethu. Ngakho-ke, izimpawu zingahlukaniswa ngezigaba ezimbili eziyinhloko. Ake sizibheke ngale ndlela ukuze kube lula ukuziqonda.
| Uhlobo lwesibonakaliso | Incazelo nezibonelo |
|---|---|
| Izimpawu Zomzimba |
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| Izinguquko Zengqondo Nokuziphatha |
|
Ezigabeni zokuqala, lezi zimpawu zingase zingabonakali. Zingase ziqale ngento elula njengokubamba ipeni noma ukukhubeka. Kodwa ngokuhamba kwesikhathi, lezi zimpawu zingaba zimbi kakhulu, zenze kube nzima ukwenza imisebenzi yansuku zonke wedwa.
Into ebalulekile ukuthi lezi zimpawu zingahluka kumuntu nomuntu. Lokho umuntu anakho kungase kungabi yinto efanayo neyomunye umuntu.
Kungani lesi sifo senzeka? Iyini imbangela?
Imbangela eyinhloko yesifo sikaHuntington ukuguquka kwezakhi zofuzo. Kalula nje, kubangelwa ushintsho ku-gene ebizwa ngokuthi i-'HTT' emizimbeni yethu.
Le gene ethi 'HTT' yenza iphrotheni ebizwa ngokuthi 'huntingtin'. Le phrotheni isiza amangqamuzana ezinzwa (ama-neurons) ebuchosheni bethu ukuthi asebenze kahle.
Kodwa-ke, ngenxa yokuthi umuntu onesifo sikaHuntington unesici ku-'HTT' gene, iphrotheni ethi 'huntingtin' eyikhiqizayo nayo inephutha. Esikhundleni sokusiza amangqamuzana ezinzwa, leyo phrotheni enephutha iqala ukuwabhubhisa. Lapho amangqamuzana obuchopho efa ngale ndlela, kuvela izimpawu ezishiwo ngenhla.
Ingabe lesi isifo esizuzwe njengefa?
Yebo. Lesi yisifo esizuzwa njengefa. Kwezokwelapha, lokhu sikubiza ngokuthi iphethini "elawulayo ye-autosomal" yefa. Lokhu kusho ukuthi:
Uma umama noma ubaba wakho enalesi sifo, nawe unethuba elingu-50% lokuba naso.Yebo. Futhi kunjalo nangabantwana bakini.
Akuvamile kakhulu ukuthi umuntu abe nalesi sifo ngaphandle kokuba noma ubani emndenini wakhe abe nalesi sifo ngenxa yokuguquka kwezakhi zofuzo okusha. Kodwa lokho akuvamile kakhulu.
Udokotela usithola kanjani lesi sifo?
Uma unalezi zimpawu, into yokuqala okufanele uyenze ukubonana nodokotela. Cishe uzokudlulisela kudokotela wezinzwa.
Kuhlolwa izivivinyo eziningana ukuze kutholakale lesi sifo.
- Ukuhlolwa ngokomzimba nangokwezinzwa: Udokotela uzohlola ngokucophelela ukunyakaza komzimba wakho, ibhalansi, kanye nokusabela komzimba.
- Umlando wezokwelapha womndeni: Uzobuzwa ukuthi ukhona yini emndenini wakho oke waba nalesi sifo. Lokhu kubaluleke kakhulu.
- Ukuhlolwa kofuzo: Lokhu ukuhlolwa okubaluleke kakhulu ukuqinisekisa lesi sifo. Lokhu kuhilela ukuthatha isampula yegazi lakho bese uhlola i-DNA yalo ukuze uthole iphutha lofuzo lwe-HTT.
- Ukuskena kobuchopho: Ukuskena okufana nokuskena kwe-magnetic resonance (MRI) kanye nokuskena kwe-computed tomography (CT) nakho kungenziwa ukuze kubonwe ukuthi kukhona yini izinguquko ebuchosheni.
Kungenzeka yini ukwazi ukuthi unalokhu ngaphambi kokuba kuvele izimpawu?
Yebo, ungakwazi. Uma othile emndenini wakho (umama, ubaba, umfowabo noma udadewabo) enalesi sifo, ukuhlolwa kofuzo kungathola ukuthi nawe uzuze ifa lofuzo ngaphambi kokuba kuvele izimpawu . Lokhu kubizwa ngokuthi "ukuhlolwa kofuzo okubikezelayo".
Kodwa lesi yisinqumo esibucayi kakhulu.
- Izinzuzo: Ukwazi ukuthi ungase ube nalesi sifo esikhathini esizayo kungakusiza ngokuhlela umndeni kanye nokuhlela ezezimali.
- Okubi: Futhi, kungaba nzima kakhulu engqondweni ukwazi ukuthi unesifo esingelapheki.
Ngakho-ke, ngaphambi kokuhlolwa okunjalo, kungcono ukukhuluma nomeluleki wezakhi zofuzo bese wenza isinqumo ngemva kokuqonda ngokugcwele izinzuzo nezingozi.
Ingabe ikhona indlela yokwelapha lokhu?
Lokhu kuyinto edabukisa kakhulu ukuyizwa. Okwamanje akukho ukwelashwa kokwelapha isifo sikaHuntington ngokuphelele, ukuvimba lesi sifo ukuthi singabi khona, noma ukuvimba izimpawu ukuba zibe zimbi kakhulu.
Kodwa, ungakhathazeki. Kunezindlela eziningi zokwelapha ezingasiza ukulawula izimpawu futhi zisize isiguli siphile ngokunethezeka ngangokunokwenzeka.
- Ukwelashwa ngokomzimba noma ukwelashwa ngokomsebenzi: Lokhu kwelashwa kusiza ukuthuthukisa ibhalansi yomzimba, amandla emisipha, futhi kwenze imisebenzi yansuku zonke ibe lula.
- Ukwelashwa ngenkulumo:Kusiza ngezinkinga zokukhuluma nokugwinya.
- Ukwelulekwa: Ukwelulekwa kubaluleke kakhulu ukuze ubhekane nezimo ezinjengokucindezeleka nokucindezeleka okubangelwa yilesi sifo.
- Imithi: Udokotela wakho angase akunike imithi ehlukahlukene yokulawula izimpawu zakho. Isibonelo:
- Imithi efana ne-"Tetrabenazine" kanye ne-"Deutetrabenazine" isetshenziselwa ukulawula ukuthuthumela komzimba (i-chorea).
- Imithi efana nemithi yokucindezeleka kanye nemithi yokwelapha ukucindezeleka kanye nezinkinga zengqondo.
Lesi sifo siba sibi kangakanani ngokuhamba kwesikhathi?
Isifo sikaHuntington yisifo esiqhubekayo esivame ukuqhubeka ngezigaba ezintathu.
| Isigaba salesi sifo | Isimo |
|---|---|
| Isigaba Sokuqala | Izimpawu azizimbi kangako. Kungase kube nokuthuthumela okuncane, ukushintshashintsha kwemizwelo, kanye nokudideka. Ungenza imisebenzi yakho yansuku zonke njengokujwayelekile. |
| Isigaba Esiphakathi | Izinguquko zomzimba nezengqondo ziyanda. Izinto ezifana nokushayela nokusebenza ziba nzima. Ubunzima bokugwinya buyanda. Ukuwa njalo. Kodwa ungenza imisebenzi yakho (ukugeza, ukugqoka) wedwa. |
| Isigaba Sokuphela | Kuba nzima ukwenza imisebenzi yansuku zonke wedwa. Abantu abaningi balala embhedeni. Badinga usizo komunye umuntu kukho konke, kusukela ekudleni kuya ekugeza. Badinga ukunakekelwa amahora angama-24. |
Ingabe lesi sifo siyabulala?
Isifo sikaHuntington asibangeli ukufa ngokuqondile. Kodwa-ke, izinkinga zalesi sifo zingabangela ukufa. Isibonelo:
- Ubunzima bokugwinya bungabangela ukuthi ukudla/iziphuzo zibhajwe emgudwini womoya , okubangela izifo ezifana ne-pneumonia .
- Ukulimala okukhulu okubangelwa ukuwa njalo .
Lesi sifo sivame ukuhlala phakathi kweminyaka eyi-10 kuya kwengama-30 ngemva kokutholakala kwaso.Ungaphila. Lesi sikhathi siyahlukahluka kuye ngomuntu nomuntu.
Yini ongayenza ngenkathi uphila nalesi sifo?
Nakuba lesi sifo singenakuvinjelwa, kunezinto eziningi ezingenziwa ukuze kulondolozwe izinga lempilo elihle ngenkathi uphila nalesi sifo.
- Vivinya umzimba njalo: Ucwaningo luye lwabonisa ukuthi ukuzivocavoca kungakusiza ukuthi uhlale uphilile ngokomzimba nangokwengqondo.
- Thola ukudla okunempilo: Ukwakha umzimba kungashisa amakhalori afinyelela ku-5,000 ngosuku. Ngakho-ke, kubalulekile ukubonisana nochwepheshe wezokudla nokudla ukudla okunempilo.
- Phuza amanzi amaningi: Ubunzima bokugwinya bungabangela ukuphelelwa amanzi emzimbeni. Ngakho-ke, kubalulekile ukuphuza inani elidingekayo lamanzi usuku lonke.
- Joyina iqembu lokusekelana: Ukukhuluma nabanye abantu abanalesi sifo kanye nemindeni yabo kuwumthombo omkhulu wamandla engqondo.
- Hlela ikusasa: Cwaninga kusengaphambili ngokunakekelwa okuzodingayo (izinsizakalo zokunakekelwa ekhaya, izindawo zokunakekela asebekhulile) uma ukugula kwakho kuba kubi kakhulu. Khetha umuntu omethembayo ukuthi anakekele izindaba zakho zezezimali nezomthetho.
Kuvamile ukuzizwa udabuke futhi ushaqekile uma ufunda ngalesi sifo. Kodwa awuwedwa. Odokotela, abelaphi, abeluleki, kanye nomndeni wakho bakhona ukukusiza.
Umlayezo Wokuya Nawe Ekhaya
- Isifo sikaHuntington siyisifo sofuzo esidluliselwa ezizukulwaneni ngezizukulwane. Akusona isifo esithelelanayo.
- Lokhu kulimaza kakhulu amangqamuzana ezinzwa ebuchosheni, kuthinta ukunyakaza komzimba, imizwa, kanye namakhono okucabanga.
- Akukho ukwelashwa kwalesi sifo, kodwa kunezindlela zokwelapha ezingasiza ekulawuleni izimpawu nokuthuthukisa ikhwalithi yokuphila.
- Uma othile emndenini wakho enalesi sifo, nawe usengozini. Uma unokungabaza ngaso, khuluma nodokotela bese uthola iseluleko mayelana nokuhlolwa kofuzo.
- Nakuba ukuphila nalesi sifo kuyinselele, ngokunakekelwa okufanele kwezokwelapha, ukwesekwa kokwelashwa, kanye nosizo lomndeni, ungaphila kahle ngangokunokwenzeka.
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