Ubuhlungu beHuntington: Izimpawu, Izimbangela, Nokwelashwa

Ubuhlungu beHuntington yini?

Ubuhlungu beHuntington yisifo sengqondo esidluliselwa ngezakhi zofuzo esichitha kancane kancane amaseli ezinzwa ezindaweni ezithile zengqondo yakho. Lesi simo sihlupha ukunyakaza kwakho, ukucabanga, kanye nemizwelo, futhi sibangelwa yi-gene ephosakele oyithola komunye wabazali bakho.

Cabanga ngengqondo yakho njengoba inezindawo ezahlukene, futhi ubuhlungu beHuntington bulimaza ngokukhethekile izindawo ezibhekene nokulawula ukunyakaza kanye nokusebenza kwengqondo. Lesi sifo siqhubeka kancane eminyakeni eminingi, okusho ukuthi izimpawu zivame ukuvela kancane kunokuba zivele ngesikhathi esisodwa.

Lesi simo sincane kakhulu, sihlupha abantu abangu-3 kuya ku-7 ngabangu-100,000 emhlabeni jikelele. Nakuba kuyisimo esinzima, ukuqonda ukuthi ubhekene nani kungakusiza wena nomndeni wakho ukuhlela ikusasa nokufinyelela ekusekelweni okudingayo.

Ziyini izimpawu zobuhlungu beHuntington?

Izimpawu zobuhlungu beHuntington zivame ukuqala phakathi kweminyaka engu-30 no-50, nakuba zingaqala ngaphambi noma kamuva. Lesi sifo sihlupha izindawo ezintathu eziyinhloko zempilo yakho, futhi izimpawu zivame ukufana futhi zishintshe ngokuhamba kwesikhathi.

Izimpawu zokunyakaza zivame ukuba yizimpawu zokuqala ezibonakala kakhulu:

• Ukukhahlela okungazibonakalisi noma ukunyakaza okubuthakathaka (okubizwa ngokuthi i-chorea)
• Izinkinga zemisipha njengobunzima noma ubunzima
• Ukukhahlela okungajwayelekile noma ukunyakaza kwamehlo
• Ukukhahlela okuphazamisekile, isimo, nokuqina
• Ubunzima bokukhuluma noma ukugwinya
• Ubunzima bobuchwepheshe obuhle njengokubhala

Izimpawu zengqondo zihlupha ukucabanga kwakho futhi zingaba nzima njengezinkinga zokunyakaza:

• Ubunzima bokuhlela, ukuqapha, noma ukugxila emisebenzini
• Izinkinga ngokuguquguquka ekucabangeni
• Ubunzima bokulawula izimpikiswano
• Ukuqondwa kancane kwemicabango noma ukufumana amagama
• Izinkinga zokukhumbula, ikakhulukazi ukufunda ulwazi olusha

Izimpawu zomzwelo neze-psychiatric zivame ukuvela kanye nezinguquko zomzimba:

• Usizi kanye nokuhlukahluka kwemizwelo
• Ukucasuka nokuthukuthela
• Ukukhathazeka nokuzisula emphakathini
• Izenzo ezingapheli
• I-psychosis ezimweni ezingavamile

Lezi zimpawu aziveli zonke ngesikhathi esisodwa, futhi isipiliyoni sabo bonke sihlukile. Abanye abantu bangase baphawule izinguquko zokunyakaza kuqala, kanti abanye bangase babe nezinguquko zomzwelo noma zokucabanga ngaphambi kokuba kube khona izimpawu zomzimba.

Yini ebangela ubuhlungu beHuntington?

Ubuhlungu beHuntington bubangelwa yinguquko ku-gene elilodwa elibizwa nge-huntingtin gene (HTT). Le gene ngokuvamile iyasiza amaseli engqondo ukuba asebenze kahle, kodwa uma iphosakele, ikhiqiza iprotheni enobuthi elimaza amaseli engqondo kancane kancane.

Lesi simo silandela lokho odokotela abakubiza ngokuthi "i-autosomal dominant" inheritance pattern. Lokhu kusho ukuthi udinga kuphela ukudlulisela ikhophi elilodwa le-gene ephosakele komunye wabazali ukuze uthole lesi sifo. Uma omunye wabazali bakho enesifo seHuntington, unethuba elingu-50% lokukuthola.

Ngokungafani nezinye izimo eziningi, azikho izinto ezingaphandle noma izinqumo zokuphila ezibangela ubuhlungu beHuntington. Kuyinto yofuzo kuphela, okusho ukuthi akuyona into obungayivikela noma oyibangele ngezenzo zakho.

Ezimweni ezingavamile, inguquko ye-gene ingase ivele ngokungazelelwe ngaphandle kokudluliselwa kubazali. Lokhu kwenzeka ngaphansi kuka-10% yezimo futhi kuvame kakhulu lapho lesi sifo siqala ebusheni.

Nini okufanele ubona udokotela ngenxa yobuhlungu beHuntington?

Kufanele ubona udokotela uma uqaphela izinkinga zokunyakaza eziqhubekayo, ikakhulukazi ukunyakaza okungazibonakalisi okuhlupha imisebenzi yansuku zonke. Izimpawu zokuqala zingase zibe ukungakhululeki, ubunzima bokuqina, noma ukunyakaza okungajwayelekile okubonakala kuza futhi kuhamba.

Ukuhlukahluka ekucabangeni kwakho noma emizwelweni yakho okuqhubeka amasonto noma izinyanga nakho kudinga ukunakekelwa kwezokwelapha. Lokhu kuhlanganisa ubunzima bokuhlanganisa, ukwenza izinqumo, noma izinguquko eziphawulekayo zobuntu abantu bomndeni bakhulume ngazo.

Uma unomlando womndeni wobuhlungu beHuntington, kubalulekile ukuxoxa ngokwelulekwa kwezakhi zofuzo nodokotela wakho, ngisho nangaphambi kokuba kuvele izimpawu. Le ngxoxo ingakusiza ukuqonda ingozi yakho nokwenza izinqumo ezilwemi ngokuhlolwa kwezakhi zofuzo.

Ungalindi izimpawu zibe nzima ngaphambi kokufuna usizo. Ukuxilongwa kwasekuqaleni kukuvumela ukuthi ufinyelele ekwelapheni okungasiza ekulawuleni izimpawu nokuxhumana nezinsizakalo zokusekela ezingathuthukisa ikhwalithi yempilo yakho.

Ziyini izinto ezingozi zobuhlungu beHuntington?

Into eyingozi eyinhloko yobuhlungu beHuntington ukuba nomzali onesi sifo. Njengoba kuyisifo esidluliselwa ngezakhi zofuzo se-autosomal dominant, umntwana ngamunye womzali ohlushwayo unethuba elingu-50% lokudlulisela i-gene ephosakele.

Ubudala bungathinta ukuthi izimpawu zivela nini, nakuba kungachazi ukuthi uzokuthola yini lesi sifo. Abantu abaningi abanesifo seHuntington baqala ukubonisa izimpawu phakathi kweminyaka engu-30 no-50, kodwa lesi simo singaqala ngaphambi noma kamuva ekuphileni.

Ezimweni ezingavamile, ubuhlungu beHuntington obusemncane bungaqala ngaphambi kweminyaka engu-20. Lesi simo esiqala ebusheni sivame ukuba sibi kakhulu futhi siqhubeka ngokushesha kunesimo esiqala ebuntwini. Kuvame kakhulu ukuvela lapho i-gene ephosakele idluliselwa nguyise.

Ngokungafani nezinye izimo zempilo eziningi, izinto zokuphila njengokudla, ukuzivocavoca, noma ukudalulwa kwemvelo azikhuphuli noma azinciphisi ingozi yakho yokuthola ubuhlungu beHuntington. Lesi simo sinqunywa ngokuphelele yizakhi zofuzo.

Ziyini izinhlanganisela ezingaba khona zobuhlungu beHuntington?

Njengoba ubuhlungu beHuntington buqhubeka, bungabangela izinhlanganisela eziningi ezihlupha izici ezahlukene zempilo yakho kanye nempilo yakho yansuku zonke. Ukuqonda lezi zinto ezingaba khona kungakusiza wena nomndeni wakho ukuba nilungiselele futhi nifune ukunakekelwa okufanele.

Izinhlanganisela zokunyakaza zivame ukuba zikhulu ngokuhamba kwesikhathi:

• Ukungozi okukhulu kokuwa ngenxa yezinkinga zokuqina nokuhlanganisa
• Ubunzima bokugwinya, okungabangela ukukhahlela noma i-aspiration pneumonia
• Izinkinga zokunyakaza ezinkulu ezenza ukuhamba noma ukunakekela kwakho siqu kube nzima
• Ukubopha kwemisipha noma ubunzima obubekela umkhawulo ekuhambeni

Izinhlanganisela zengqondo nezenhlalakahle zingathinta kakhulu ukusebenza kwansuku zonke:

• Ubunzima obuqhubekayo ekwenzeni izinqumo nasekuxazululeni izinkinga
• Usizi olukhulu olungase luhlanganise imicabango yokuzibulala
• Izenzo zokucasuka ezingase zihluphe ubuhlobo
• Ukuqina ngokuphelele kwabanye ngokunakekelwa kwansuku zonke

Izinhlanganisela zezokwelapha zingase zivele njengoba lesi sifo siqhubeka:

• Ukulahlekelwa isisindo nokungondliwe kahle ngenxa yezinkinga zokudla
• Ukutheleleka kwezifo zokuphefumula ngenxa yezinkinga zokugwinya
• Izinkinga zenhliziyo kwezinye izimo
• Izinhlanganisela ezivela ekuweni noma ekulimaleni

Nakuba lezi zinhlanganisela zizwakala zikhulu, eziningi zingaphathwa ngokunakekelwa kwezokwelapha okufanele nokusekelwa. Ukusebenzisana eduze neqembu lakho lezokwelapha kungasiza ukuvimbela noma ukunciphisa izinkinga eziningi.

Ubuhlungu beHuntington buxilongwa kanjani?

Ukuxilongwa kobuhlungu beHuntington ngokuvamile kuhlanganisa ukuhlolwa kwezokwelapha, umlando womndeni, kanye nokuhlolwa kwezakhi zofuzo. Udokotela wakho uzoqala ngokuxoxa ngezimpawu zakho nanoma yimiphi imilandu yomndeni yesimo.

Ukuhlolwa kwezonyango kusiza ekuhlolweni kokunyakaza kwakho, ukuhlanganisa, ukuqina, kanye nokusebenza kwengqondo. Udokotela wakho angase akucele ukuba wenze imisebenzi elula njengokuhamba, ukunyakaza kweminwe, noma ukuphendula imibuzo ukuhlola ukuthi lesi sifo singakuthinta kanjani.

Izifundo zokuthwebula ingqondo, njenge-CT noma i-MRI scans, zingabonisa izinguquko ezibonakalayo esakhiweni sengqondo ezivela ngenxa yobuhlungu beHuntington. Lezi scans zisiza ekuqedeni ezinye izimo futhi zingabonisa amazinga ezingozi ezingqondweni.

Ukuhlolwa kwezakhi zofuzo kunikeza ukuxilongwa okuqinisekisiwe kakhulu. Ukuhlolwa okulula kwegazi kungathola i-gene ephosakele ye-huntingtin. Uma unezimpawu kanye nokuhlolwa kwezakhi zofuzo okuhle, ukuxilongwa kuyaqinisekiswa. Lokhu kuhlolwa kungase futhi kwenziwe ngaphambi kokuba kuvele izimpawu uma unomlando womndeni wesifo.

Ukuhlolwa kwezokwelapha kanye ne-psychiatric kusiza ekuhlolweni kokusebenza kwengqondo kanye nezimpawu zomzwelo. Lezi zivivinyo zingathola izinguquko zokuqala ekucabangeni, ekukhumuleni, nasemizwelweni ezingase zingabonakali ekuphileni kwansuku zonke.

Yikuphi ukwelashwa kobuhlungu beHuntington?

Nakuba akukho ukwelashwa kobuhlungu beHuntington okukhona njengamanje, kukhona izindlela eziningi zokwelapha ezingasiza ekulawuleni izimpawu nokwenza impilo ibe ngcono. Umgomo ukukusiza ugcine ukusebenza nokududuzeka isikhathi eside ngangokunokwenzeka.

Imithi ingasiza ekulawuleni izimpawu ezahlukene:

• I-Tetrabenazine noma i-deutetrabenazine yokunyakaza okungazibonakalisi
• Imithi ye-antipsychotic ye-chorea enkulu kanye nezimpawu zokuziphatha
• Imithi ye-antidepressant yokucindezeleka nokukhathazeka
• Imithi yokulinganisa imizwelo yokucasuka nokuthukuthela

I-physical therapy iyasiza ekuqinisweni kokunyakaza nokuqina ngenkathi inciphisa ingozi yokuwa. Umphristi wakho angakufundisa imizamo yokugcina imisipha iqine futhi ibe noguquguquko, futhi ancoma amadivayisi okusiza uma kudingeka.

I-speech therapy iba yiyona ebalulekile njengoba lesi sifo sihlupha ikhono lakho lokukhuluma nokugwinya. Umphristi wokukhuluma angakusiza ukuba ukhulumisane kahle futhi afundise izindlela zokugwinya eziphephile ukuvimbela ukukhahlela.

I-Occupational therapy igxile ekusikweni ukwenza imisebenzi yansuku zonke nokugcina ukuzimela. Lokhu kungase kuhlanganise ukuguqula indawo yakho yasekhaya noma ukufunda izindlela ezintsha zokwenza imisebenzi njengoba amakhono akho eshintsha.

Ukusekelwa kokudla kubalulekile njengoba izinkinga zokugwinya zivela. Udokotela wokudla angakusiza uqiniseke ukuthi uthola ukudla okufanele futhi angase ancome ukuguqulwa kwezakhi noma izithasiselo uma kudingeka.

Ungalawula kanjani ubuhlungu beHuntington ekhaya?

Ukudala indawo yasekhaya ephephile futhi esekelayo kungenza umehluko omkhulu ekulawuleni ubuhlungu beHuntington. Ukuhlanganiswa okulula kungakusiza ugcine ukuzimela nokunciphisa ingozi yokulimalala.

Ukuhlanganiswa kokuphepha endaweni yakho yasekhaya kuhlanganisa ukususa ama-rugs ahlangene, ukufaka ama-handrails ezitebhini, nokuqinisekisa ukukhanya okuhle kulo lonke ikhaya lakho. Cabanga ngokuhlela kabusha ifenisha ukudala izindlela ezicacile nokunciphisa ingozi yokuwa.

Ukuqalisa amasiko kungasiza ngezimpawu zengqondo nokunciphisa ukudideka. Zama ukugcina izikhathi zokudla ezihambisanayo, amashejuli wemithi, kanye nemisebenzi yansuku zonke. Ukusebenzisa izikhumbuzo, amanothi okukhumbuza, kanye nabahleli bemithi kungasiza ngezinkinga zokukhumbula.

Ukudla kudinga ukunakekelwa njengoba lesi sifo siqhubeka. Gxila ekudleni okunama-nutrients amaningi futhi cabanga ngokudla ukudla okuncane, okuningi uma ukugwinya kuba nzima. Hlala uthola amanzi futhi sisebenzisane neqembu lakho lezokwelapha uma ukudla kuba nzima.

Ukusebenza ngaphakathi kwamandla akho kubalulekile kokubili impilo yomzimba nengqondo. Imizamo elula njengokuhamba, ukubhukuda, noma ukwelula ingasiza ekuqinisweni kwemisipha nokuqina ngenkathi inikeza izinzuzo zomzwelo.

Ukukwakha nokugcina uxhumano oluhle lomphakathi kusiza ekuqedeni ukungabi nandaba nokucindezeleka. Hlala uhlanganyela nomndeni nabangane, cabanga ngokujoyina amaqembu okusekela, futhi ungangabazi ukucela usizo uma ulikhona.

Kufanele ulungiselele kanjani i-appointment yakho nodokotela?

Ukulungiselela i-appointment yakho nodokotela kungasiza ukuqinisekisa ukuthi uthola okuningi e-appointment yakho futhi ukhulume ngazo zonke izinkinga zakho. Qala ngokubhala phansi izimpawu ozibonile, kuhlanganise nokuthi zaqala nini nokuthi zishintshe kanjani.

Letha uhlu oluphelele lwemithi yakho yangamanje, kuhlanganise nezinga kanye nanoma yiziphi izithasiselo ezingaphezulu kokuthengwa kwesitolo. Futhi, qaphela noma yiziphi izingozi ezingase uzibone ekuwelapheni kwamanje.

Ulwazi lomlando womndeni lubalulekile ngenxa yobuhlungu beHuntington. Buthana imininingwane ngamalungu omndeni angase abe nesimo, kuhlanganise nezimpawu zabo neminyaka yokuqala. Lolu lwazi lusiza udokotela wakho ukuqonda isimo sakho ngokukhethekile kangcono.

Cabanga ngokuletha ilungu lomndeni noma umngane e-appointment yakho. Bangakusiza ukuba ukhumbule imibuzo okumele uyibuze, bathathe amanothi ngesikhathi sokuvakasha, futhi banikeze ukubuka okuengeziwe ngezinguquko abazibonile kuwe.

Lungiselela uhlu lwemibuzo ngaphambi kwesikhathi. Ungase ufune ukubuza ngezindlela zokwelapha, ukuqhubeka okulindelekile, izinsiza zokusekela, noma ukuhlela ikusasa. Ungakhathazeki ngokubuza imibuzo eminingi kakhulu - udokotela wakho ufuna ukukusiza uqonde isimo sakho.

Yini eyinhloko okumele uyithole ngobuhlungu beHuntington?

Ubuhlungu beHuntington yisimo esinzima sezofuzo, kodwa ukuqonda kukunika amandla okwenza izinqumo ezilwemi ngokunakekelwa kwakho nekusasa lakho. Nakuba lesi sifo siqhubeka, abantu abaningi baphila impilo ezele ukwaneliseka iminyaka eminingi ngemuva kokuxilongwa ngokusekelwa okufanele nokwelashwa.

Ukuxilongwa kwasekuqaleni nokwelashwa kungathuthukisa kakhulu ikhwalithi yempilo yakho futhi kukusize ugcine ukusebenza isikhathi eside. Umgomo ukusebenzisana eduze neqembu lakho lezokwelapha ukwakha uhlelo oluphelele lokunakekelwa olukhuluma nezidingo zakho nezimpawu zakho.

Khumbula ukuthi awuwedwa kule ndlela. Amaqembu okusekela, ochwepheshe bezokwelapha, kanye nezinhlangano ezinikwe ubuhlungu beHuntington zingakunikeza izinsiza ezibalulekile, ulwazi, nokusekelwa komzwelo kokubili wena nomndeni wakho.

Ukuhlela kusengaphambili, nakuba kunzima, kungasiza ukuqinisekisa ukuthi izifiso zakho ziyahlonishwa futhi kunciphisa ukucindezeleka kwabathandekayo bakho. Cabanga ngokuxoxa ngokuthanda kwakho ngokunakekelwa kwesikhathi esizayo nomndeni wakho neqembu lakho lezokwelapha ngenkathi usakwazi ukwenza lezi zinqumo ngokucacile.

Imibuzo evamile ebuzwa ngobuhlungu beHuntington

Q1: Ingabe ubuhlungu beHuntington bungavikeleka?

Ngeshwa, ubuhlungu beHuntington abunakuvimbeka njengoba bubangelwa yinguquko yezakhi zofuzo. Kodwa-ke, ukwelulekwa kwezakhi zofuzo kungasiza abantu abasezingozini ukuqonda amathuba abo okuba nesifo nokwenza izinqumo ezilwemi zokuhlela umndeni. Abanye abantu bakhetha ukuhlolwa kwezakhi zofuzo ngaphambi kokuba babe nezingane ukuqonda ingozi yokudlulisela lesi simo kubantwana babo.

Q2: Abantu baphila isikhathi esingakanani benesifo seHuntington?

Isikhathi sokuphila ngemuva kokuba kuvele izimpawu ngokuvamile iminyaka engu-15 kuya ku-20, nakuba lokhu kuhlukahluka kakhulu kumuntu ngamunye. Abanye abantu bangase baphile isikhathi eside, kanti abanye bangase babe nokuqhubeka okusheshayo. Isimo esiqala ebusheni sivame ukuqhubeka ngokushesha kunesifo seHuntington esivela ebuntwini. Ikhwalithi yempilo nokukhathalelwa kwezokwelapha okufanele kudlala indima ebalulekile ekuphileni kahle kulo lonke isikhathi sesifo.

Q3: Ingabe ukuhlolwa kwezakhi zofuzo kunconywa amalungu omndeni?

Ukuhlolwa kwezakhi zofuzo yisinqumo somuntu siqu okufanele senziwe ngokwelulekwa kwezakhi zofuzo. Ukuhlolwa kungase kwenziwe ngaphambi kokuba kuvele izimpawu, kodwa kubalulekile ukucabangela umthelela wezingqondo wokwazi ukuthi uzokuthola lesi sifo. Abanye abantu bakhetha ukwazi ukuze bakwazi ukuhlela impilo yabo ngokufanele, kanti abanye bakhetha ukungahlolwa. Ayikho indlela efanele noma engalungile.

Q4: Ingabe izinguquko zokuphila zinganciphisa ukuqhubeka kobuhlungu beHuntington?

Nakuba izinguquko zokuphila zingakwazi ukuyeka noma ukunciphisa kakhulu ukuqhubeka kwesifo, ukugcina impilo enhle yonke ingakusiza uzizwe kangcono futhi usebenze isikhathi eside. Ukuzivocavoca okuvamile, ukudla okufanele, ukuhlala usebenza ngengqondo, nokuphatha ukucindezeleka kungasiza ngezimpawu kanye nempilo yonke. I-physical therapy ne-speech therapy zingasiza futhi ekuqinisweni kokusebenza isikhathi eside.

Q5: Yikuphi ukusekelwa okukhona emindenini ehlushwa ubuhlungu beHuntington?

Kukhona izinsiza eziningi ezitholakalayo kuhlanganise ne-Huntington's Disease Society of America, amaqembu okusekela bendawo, abeluleki bezakhi zofuzo, namaqembu ezokwelapha akhethekile. Lezi zinhlangano zinika imfundo, ukusekelwa komzwelo, ukubhikisha, kanye nosizo olusebenzayo. Imiphakathi eminingi inezinsizakalo zokunakekelwa kwesikhashana nezinye izinhlelo zokusekela imindeni ehlushwa ubuhlungu beHuntington.