Ingabe nawe unenkinga yokuhamba noma ukwenza izinto? Ingabe uzizwa sengathi ulahlekelwa yibhalansi yakho? Ingabe singaxoxa ngalokhu (i-Spinocerebellar Ataxia)?

Ingabe ngezinye izikhathi uzizwa sengathi imilenze yakho iyaphambana uma uhamba? Noma uzizwa sengathi awukwazi ngisho nokubamba indebe esandleni sakho kahle? Mhlawumbe uthola ngisho namagama angacacile uma ukhuluma. Uma lezi zinto zenzeka hhayi kanye noma kabili kuphela, kodwa izikhathi eziningana ngesikhathi esisodwa, akuyona into okufanele singayinaki. Namuhla sizokhuluma ngesizathu esisodwa esingaba yimbangela yalokhu, okuyisimo esibizwa ngokuthi i-'Spinocerebellar Ataxia' (sizosibiza ngokuthi i-'SCA').

Kuyini i-'Spinocerebellar Ataxia (SCA)'? Ake sikuqonde kalula.

Kalula nje, i-Ataxia yisimo lapho ulahlekelwa khona kancane kancane ikhono lakho lokuxhumanisa ukunyakaza komzimba wakho . Kuyinto ethinta uhlelo lwakho lwezinzwa futhi iba yimbi ngokuhamba kwesikhathi. Cabanga ngokulahlekelwa ikhono lakho lokuhambisa izingalo nemilenze yakho, ukuhamba, noma ukubamba okuthile. Kunezinhlobo eziningi ze-ataxia, ngayinye inezimbangela nezimpawu zayo.

I-Spinocerebellar Ataxia (SCA) olunye uhlobo lwe-ataxia, futhi iyisimo sofuzo . Ithinta kakhulu i-cerebellum yakho. I-cerebellum iyingxenye ebaluleke kakhulu yobuchopho bakho. Ilawula izinto ezifana nokuhamba kwakho, ukubamba, nokugcina ibhalansi yakho. Ngezinye izikhathi, i-SCA ingathinta nomgogodla wakho.

Ngenxa yokuthi lokhu kuyifa, izimpawu ziyanda kancane kancane ngokuhamba kwesikhathi. Ngeke ubone umehluko omkhulu ngokushesha. Lokhu kuthinta kakhulu:

• Ngenxa yomsebenzi wamehlo.
• Ngemisebenzi yezandla (isibonelo, ukubhala, ukubamba inkomishi, ukudla).
• Ukulahlekelwa ukusebenza kahle kwemilenze kanye nekhono lokuhamba (ukulahlekelwa yibhalansi).
• Indlela okhuluma ngayo (amagama ayaphambana).

Okushiwoyo kunethonya elikhulu.

Zingaki izinhlobo ze-'SCA' ezikhona?

Njengamanje, odokotela nososayensi sebethole izinhlobo ze-SCA ezingaphezu kuka-40 . Leli nani cishe lizokhula esikhathini esizayo, njengoba ucwaningo luqhubeka. Odokotela babiza lezi zinhlobo ze-SCA ngezinombolo. Isibonelo, i-Spinocerebellar Ataxia uhlobo 1, uhlobo 2, njalo njalo.

Izimbangela nezimpawu zazo zonke lezi zinhlobo ze-SCA zifana kakhulu. Ngakho-ke ungase uzibuze ukuthi kungani zibalwa. Izinombolo zinikezwe ngokulandelana kwezinguquko zofuzo ezihlobene nohlobo ngalunye lwe-SCA. Kalula nje, i-SCA1 uhlobo lokuqala olutholakale futhi oluxhunywe enkingeni ye-chromosome edluliselwa ezizukulwaneni ngezizukulwane. I-SCA2 uhlobo lwesibili olutholakale. Yileyo ndlela ezibizwa ngayo.

Uhlobo oluvame kakhulu lwe-SCA yi-Spinocerebellar Ataxia uhlobo 3 (uhlobo lwe-SCA 3) . Luyaziwa nangokuthi isifo i-Machado-Joseph .

Ngakho-ke, ivame kangakanani le `SCA`?

Empeleni, lesi simo esibizwa ngokuthi `i-SCA` asivamile kakhulu.Lokho kusho ukuthi akusona isifo esithinta wonke umuntu. Ngokwezibalo, lesi sifo sitholakala cishe kubantu oyedwa (1) kwabayikhulu lezinkulungwane, noma okungenani abantu abahlanu (5). Ngakho-ke, kuyinto evamile ukungazwa ngaso njalo.

Kungani sithola le `SCA`? Iyini imbangela?

Imbangela eyinhloko ye-SCA ukuguquka kwezakhi zofuzo . Lokhu kusho ukuthi kukhona iphutha ezizakhi zofuzo ozizuza kubazali bakho. Ochwepheshe baxhumanise la maphutha athile ezakhi zofuzo nezinhlobo eziningi ze-SCA. Kodwa-ke, akuzona zonke izinhlobo ze-SCA ezibangelwa ukuguquka kwezakhi zofuzo okufanayo, kodwa ukuhlukahluka kwezakhi zofuzo ezahlukene.

Ezinye izinhlobo ze-SCA zibangelwa ukuthi ingxenye ethile ye-DNA yakho (ingxenye egcina ulwazi lwethu lwezakhi zofuzo) iphindaphindwa izikhathi ezingavamile. Lokhu kubizwa ngokuthi i-trinucleotide repeat expansion ngokwezokwelapha. Kuyinkimbinkimbi kancane, kodwa ngamazwi alula, kufana nokuthi ingxenye ethile yezakhi zofuzo ikopishwa izikhathi eziningi kakhulu.

Kunezindlela ezimbili eziyinhloko lapho lesi simo 'se-SCA' sizuzwa khona njengefa:

1. Ifa Eliyinhloko Le-Autosomal:

• Lena yindlela i-SCA evame ukutholwa njengefa ngayo.
• Okwenzekayo kulesi simo ukuthi noma ngabe uzuze lesi sakhi sofuzo esiguquliwe kumzali oyedwa kuphela , umama wakho noma ubaba wakho, usengaba nalesi simo.
• Lokhu kusho ukuthi uma umuntu one-'SCA' enengane, kunethuba elingu-50% lokuthi leyo ngane izozuza leli jini eliguquliwe. Cabanga ngakho njengethuba lokuthi uhlamvu lwemali luzofika. Leli thuba liyafana kuwo wonke umntwana.

2. Ifa Lokugobhoza Kwe-Autosomal:

• Kukhona nezinhlobo ze-'SCA' ezizuzwa ngale ndlela, kodwa azivamile kangako.
• Kulesi simo, ukuze umuntu abe nalesi simo, kumele athole lesi sakhi sofuzo esingavamile kunina nakuyise.
• Ezimweni eziningi, laba bazali ababonisi zimpawu. Bangase babe nje abathwali be-gene. Banekhophi eyodwa kuphela yesici se-gene, ngakho-ke ababi naso lesi sifo.

Ziyini izimpawu ze-SCA?

Izimpawu ze-SCA zivame ukuqala ukuvela ngemva kweminyaka engu-18. Kodwa-ke, ezinye izinhlobo ze-SCA zingaqala kusenesikhathi, kanti ezinye zingaqala kamuva. Akuyona into evele ngokuzumayo, kodwa kancane kancane, phakathi neminyaka ethile, izimpawu ziba zimbi kakhulu.

Cabanga nje, uma uyokwenza itiye ubambe iketela, isandla sakho siyaqhaqhazela bese amaqabunga etiye ewa, noma uma uhamba emgwaqweni, umane ushelele eceleni bese uwe. Kuzwakala kunzima kakhulu uma ukhuphuka futhi wehla izitebhisi. Uma lezi zinto zenzeka njalo, kubalulekile ukuzinakekela.

Izimpawu ezivame kakhulu ze-SCA yilezi:

• Ukunyakaza kwamehlo okuzenzakalelayo:Kufana nokuthi awukwazi ukugcina amehlo akho endaweni eyodwa, noma agijima ngokushesha esuka kolunye uhlangothi eya kolunye.
• Ukungasebenzi kahle kwesandla namehlo: Isibonelo, ubunzima bokubamba ingilazi yamanzi kahle, ubunzima bokufaka izinkinobho zehembe, noma ubunzima bokubhala ngokucacile.
• Izinkinga ngokulinganisela nokuxhumana: Ukuhamba kungaba sengathi uzokhubeka noma uwe kalula. Kungaba nzima futhi ukuma uqonde.
• Inkulumo engaqondakali: Inkulumo engaqondakali , lapho amagama engenakuphinyiselwa kahle, okwenza inkulumo ingacaci. Njengokungathi iboshwe ulimi.
• Ubunzima bokucubungula nokukhumbula ulwazi/ukukhubazeka kokufunda: Ubunzima bokufunda izinto ezintsha, ukukhohlwa ngokushesha izinto ezishiwoyo, kanye nobunzima bokugxilisa ingqondo.
• Ukuhamba ngokungahlelekile: Ukuhamba sengathi udakiwe, sengathi awukwazi ukugcina izinyawo zakho ziqondile, sengathi uzama ukuhamba izinyawo zakho zisakazeke kabanzi.

Lezi zimpawu zingahluka kumuntu nomuntu, futhi ubukhali bazo bungahluka kuye ngohlobo lwe-SCA.

Odokotela bayixilonga kanjani i-SCA?

Uma unalezi zimpawu, uma ubona udokotela, uma besola ukuthi une-SCA, bazokuhlola okulandelayo ukuze bathole ukuthi unesifo:

• Umlando womndeni wakho: Uzobuzwa ukuthi ukhona yini emndenini wakho oke waba nalezi zimpawu ngaphambili, noma ngabe kukhona yini umuntu onalesi simo, i-SCA. Lolu lwazi lubaluleke kakhulu ngoba lusebenza emindenini.
• Umlando wakho wezokwelapha: Bazokubuza ngezinye izifo oke waba nazo ngaphambili, imithi oyiphuzayo, kanye nendlela yakho yokuphila.
• Ukuhlolwa okuphelele komzimba: Lokhu kuzofaka phakathi ukuhlolwa okuhlobene ngqo nohlelo lwakho lwezinzwa. Kuzohlola ibhalansi yakho, ukuhamba, amandla ezingalweni nasemilenzeni yakho, ukusabela, ukunyakaza kwamehlo, kanye nokukhuluma.
• Bazokuhlola ngokucophelela ukuze babone ukuthi unazo yini izimpawu ezihlobene ne-SCA.

Ngemva kwalezi zinto, kungenziwa ezinye izivivinyo ukuqinisekisa lesi sifo:

• Ukuhlolwa kofuzo: Lena yindlela eyinhloko yokwazi ngokuqinisekile ukuthi une-SCA. Kuthathwa isampula yegazi lakho (noma mhlawumbe isampula yamathe) bese kuhlolwa i-gene ebangela i-SCA. Izinhlobo eziningi ze-SCA zingatholakala ngalolu vivinyo lofuzo.
• Kodwa-ke, kunezinhlobo ezithile ze-SCA okungakatholakali ukuthi zinomuthi othile wofuzo. Ngakho-ke ezimweni ezinjalo, kunzima ukuqinisekisa ngokuhlolwa kofuzo kuphela.
• Uma kunjalo, odokotela bazohlola ubuchopho bakho ukuthi abunazo yini izinkinga.Kungenziwa ukuskena okukhethekile. Okuvame kakhulu ukuskena kwe-MRI (magnetic resonance imaging) . Lokhu kungabheka noma yiziphi izimpawu zokuwohloka kwe-cerebellum yakho. Ngezinye izikhathi i-CT scan (computerized tomography) nayo ingenziwa.

Futhi, abantu abacabanga ukuthi kungenzeka ukuthi bazuze ukuguquka kwezakhi zofuzo ngoba othile emndenini wabo une-SCA bangathola lolu vivinyo lwezakhi zofuzo. Lokhu kungabaluleka kakhulu kulabo abahlela ukuqala umndeni, okungukuthi, kulabo abahlela ukuba nezingane, ukuze benze izinqumo. Futhi, lapho ingane isizozalwa, okungukuthi, ngesikhathi sokukhulelwa, kungenzeka ukuhlola ukuthi ingane inalesi simo (ukuhlolwa kwangaphambi kokubeletha) .

Ingabe ikhona ikhambi lale 'SCA'? Ingabe ingelapheka?

Yilokhu wonke umuntu afuna ukukwazi. Ngeshwa, okwamanje alikho ikhambi le-'Spinocerebellar Ataxia (SCA).' Ungase uzizwe udangele uma uzwa lokhu, futhi lokho kuyinto evamile.

Nokho, lokho akusho ukuthi akukho lutho olungenziwa. Imigomo eyinhloko yokwelapha i-SCA yile:

• Ukunciphisa izimpawu.
• Ukuthuthukisa ikhwalithi yokuphila.
• Ukukusiza ukuthi usebenze ngokuzimela isikhathi eside ngangokunokwenzeka.

Lokhu okulandelayo kungenziwa njengokwelashwa kwe-'Spinocerebellar Ataxia':

• Ukwelashwa ngokomzimba: Lokhu kubaluleke kakhulu. Udokotela wezokwelapha ngokomzimba uzokufundisa indlela yokuzivocavoca kahle, aqinise imisipha yakho, athuthukise ibhalansi yakho, futhi athuthukise indlela yakho yokuhamba.
• Ukwelashwa Komsebenzi: Kukusiza ukuthi udale indawo yakho ukuze ikusize wenze imisebenzi yansuku zonke (isib. ukudla, ukugqoka, ukubhala) kalula, futhi kukufundise amasu okukusiza ukuthi wenze kanjalo.
• Ukwelapha ngenkulumo: Uma inkulumo ingacaci kahle noma kunzima ukugwinya amagama, umelaphi wenkulumo angasiza.
• Amadivayisi okusiza: Njengoba isifo siqhubeka futhi ukuhamba kuba nzima, kungadingeka usebenzise izinduku zokusibekela, inqola yokuhamba, noma isihlalo sabakhubazekile. Lokhu kungakusiza ukuthi wenze izinto wedwa.
• Imithi yokunciphisa ezinye izimpawu: Odokotela bangase bakunikeze imithi yokusiza ngezinto ezinjengokuthuthumela, ukuqina, ukudikiza kwemisipha, ukuqwasha, kanye nokucindezeleka. Kodwa-ke, le mithi ayilaphi i-SCA, ilawula izimpawu kuphela.

Odokotela nabacwaningi basazama ukuthola izindlela ezintsha zokwelapha nezindlela zokusiza abantu abane-SCA, bayiphathe, futhi bathole izindlela ezintsha zokwelapha. Ngakho ungalilahli ithemba.

Ingabe ikhona indlela yokuvimbela ukuthuthukiswa kwe-'SCA'?

Lona umbuzo abantu abaningi abawubuzayo. Uma sikhuluma iqiniso, okwamanje ayikho indlela eqinisekisiwe yokuvimbela i-SCA.Ngenxa yokuthi lokhu kubangelwa kakhulu yizici zofuzo, asikwazi ukukuvimba ukuthi kwenzeke ngalokho esikudlayo noma esikuphuzayo noma ukuzivocavoca esikwenzayo.

Eminye imindeni, ngemva kokuhlolwa kwezakhi zofuzo okuqinisekisa ukuthi inalolu shintsho emndenini wayo, ingase inqume ukungabi nabantwana. Lena yindlela kuphela eqinisekile yokuvimbela lesi simo ukuthi singadluliselwa esizukulwaneni esilandelayo. Lesi yisinqumo somuntu siqu esibucayi kakhulu. Kubaluleke kakhulu ukukhuluma nomeluleki wezakhi zofuzo ngaphambi kokwenza isinqumo esinjalo.

Yini umuntu one-SCA angayilindela esikhathini esizayo?

Uma kukhulunywa ngekusasa lomuntu one-SCA, kubalulekile ukuqaphela ukuthi iyahlukahluka kakhulu kumuntu nomuntu . Kuya ngezinto eziningana, okuhlanganisa uhlobo lwe-SCA onalo, ubukhali bayo, kanye nobudala izimpawu ezaqala ngabo.

Ngokudabukisayo, ezimweni eziningi ze-SCA, lesi sifo siya siba sibi kancane kancane, okuholela ekufeni ngaphambi kwesikhathi.

Ukuthi lesi simo siqhubeka ngokushesha kangakanani kuyahlukahluka kuye ngohlobo kanye nobukhali be-SCA. Ngakho-ke, ukuhlolwa kofuzo kungasiza ekutholeni hhayi nje kuphela ukuthi siyini lesi sifo, kodwa nokuthi ikusasa liphetheni.

Abantu abaningi bangadinga isihlalo sabakhubazekile eminyakeni eyi-10 kuya kweyi-15 ngemva kokuqala kwezimpawu zokuqala. Kuvamile ukuthi abantu abane-SCA bagcine bedinga usizo ngemisebenzi yansuku zonke, njengokugeza, ukugqoka nokulungisa ukudla.

Yini enye okufanele ngiyibuze udokotela wami mayelana ne-SCA?

Uma une-'Spinocerebellar Ataxia (SCA)' noma uma othile emndenini wakho enayo, kubaluleke kakhulu ukubuza udokotela wakho le mibuzo:

• Uhlobo luni lwe-'SCA' enginalo ngqo? (isb. `SCA1, SCA2, SCA3`?)
• Yimiphi imisebenzi emzimbeni wami ethinta kakhulu lolu hlobo lwe-'SCA'?
• Hlobo luni lochwepheshe (isib. udokotela wezinzwa, uchwepheshe wezokwelapha ngokomzimba) okufanele ngibabone ukuze ngilawule lesi simo?
• Kufanele ngize kangaki ukuzohlolwa udokotela? Yiziphi izivivinyo ezikhethekile okufanele ngizenze?
• Yiziphi izindlela zokwelapha ezitholakalayo kimi njengamanje? Ziyini izinzuzo?
• Ingabe lesi simo singafinyeza isikhathi sami sokuphila? (Lona umbuzo onzima ukuwubuza, kodwa kubalulekile ukwazi.)
• Kungenzeka yini ukuthi izingane zami zizuze lesi simo njengefa? Uma kunjalo, kungenzeka kangakanani lokho?
• Ingabe kuwumqondo omuhle ukuthi amanye amalungu omndeni wami (isib. izingane zakwethu, abafowethu nodadewethu) ahlolwe izakhi zofuzo?
• Hlobo luni lwamaqembu okusekelana owaziyo angangisiza ngibhekane nalesi simo futhi ngihlale ngiqinile engqondweni? Ingabe akhona amaqembu anjalo eSri Lanka?

Ungesabi ukubuza le mibuzo. Uma uqonda kangcono isimo sakho, kuzoba lula ngawe ukuphila naso.

Yini okufanele ngiyenze ukuze ngiphile kahle ne-SCA?

Kuvamile ukuzizwa unemibuzo eminingi, ukwesaba, ukudabuka, kanye nentukuthelo uma uthola ukuthi une-SCA. Kuyafana kuwo wonke umuntu. Awuwedwa. Lokhu okulandelayo kungakusiza ukuthi ubhekane nalesi simo esinzima futhi usiphathe kangcono:

• Cela usizo nokusekelwa kubantu obathembayo nabaseduze nabo (umndeni, abangane) . Ungalwi nalezi zinto wedwa. Yabelana nabo ngemizwa yakho.
• Yiba yingxenye ekhuthele ekwelashweni kwakho . Yiya kudokotela wakho, ulandele imiyalelo yakhe ngokucophelela, ubuze noma yimiphi imibuzo onayo, futhi wenze izinto ezifana nokwelashwa ngokomzimba.
• Cabanga ukukhuluma nomeluleki wezempilo yengqondo noma udokotela wezifo zengqondo . Bangakusiza ubhekane nalesi simo, ufunde ukuthi ungabhekana kanjani naso, futhi ube namandla ngokwengqondo.
• Ungayivaleli imizwa yakho, ungayinaki . Khala uma udabukile, yiveze uma uthukuthele (kodwa ngendlela engabakhathazi abanye).
• Uma kungenzeka, joyina iqembu lokusekelana lapho ungahlangana khona nabanye ababhekene nezinselele ezifanayo nezakho. Lokhu kuzokusiza uzizwe ungedwa kakhulu futhi ungafunda kokuhlangenwe nakho kwabanye.
• Yiba nokulindela okunengqondo . Qonda lokho ongakwenza nalokho ongenakukwenza. Kungase kudingeke ulahle ezinye izinto, ngakho-ke lungela lokho.
• Esikhundleni sokuzizwa udabuke ngokungakwazi ukwenza izinto owawukwazi ukuzenza, gxila ezintweni osakwazi ukuzenza . Zama ukujabula ngisho nezinto ezincane.
• Yidla ukudla okunempilo nokunempilo, uvivinye umzimba ngangokunokwenzeka, futhi ulale ngokwanele. Lezi zinto zilungele impilo yakho iyonke.

Khumbula, i-SCA iyingxenye eyodwa nje yempilo yakho. Ungavumeli ukuthi ikuchaze ngokuphelele. Usenomndeni onothando, abangani, nezinto osakwazi ukuzenza.

Ngakho-ke, yini okufanele siyithathe ekhaya kule ndaba?

I-Spinocerebellar Ataxia (SCA) yisimo sofuzo esithinta ubuchopho futhi ngezinye izikhathi umgogodla. Sithinta kakhulu ibhalansi yomzimba kanye nokuhambisana kokunyakaza. Lesi simo siba sibi kancane kancane ngokuhamba kwesikhathi.

Into ebaluleke kakhulu yile:

• Okwamanje akukho ukwelashwa okuqondile kwe-SCA. Kodwa-ke, kunezindlela zokwelapha (njengokwelashwa ngokomzimba, amadivayisi okusiza, kanye nemithi) ukulawula izimpawu nokwenza impilo ibe lula.
• Uma unezimpawu ezihlobene ne-'SCA', funa iseluleko sezokwelapha ngokushesha . Ukuthola ukuxilongwa kusenesikhathi kukusiza ukuthi uqale ukwelashwa.
• Njengoba lesi kuyisimo sofuzo, kubalulekile ukuthi umndeni uqaphele lokhu futhi, uma kudingeka, welulekwe futhi uhlolwe ngofuzo .
• Ukuphila ne-SCA kuyinselele. Kodwa-ke, ukuhlala ne-SCA kuyinselele.Ngeseluleko esifanele sezokwelapha, ukwesekwa komndeni, kanye namandla engqondo, lolu hambo lungafezwa.

Uma uneminye imibuzo mayelana nalokhu, ungangabazi ukukhuluma nodokotela wakho.

I- spinocerebellar ataxia, i-SCA, i-ataxia, ibhalansi, isimiso sezinzwa, izifo zofuzo, i-cerebellum, isifo sikaMachado-Joseph