Ngaba nawe unengxaki yokuhamba okanye ukwenza izinto? Ngaba uziva ngathi ulahlekelwa yibhalansi yakho? Singathetha ngale nto (i-Spinocerebellar Ataxia)?

Ngaba ngamanye amaxesha uziva ngathi imilenze yakho iyabhideka xa uhamba? Okanye uziva ngathi awukwazi nokubamba indebe esandleni sakho ngokufanelekileyo? Mhlawumbi ufumana namagama angacacanga xa uthetha. Ukuba ezi zinto zenzeka kungekuphela nje kube kanye okanye kabini, kodwa izihlandlo ezininzi ngaxeshanye, asinto esifanele siyityeshele. Namhlanje siza kuthetha ngesinye isizathu esinokubangela oku, esibizwa ngokuba yi-'Spinocerebellar Ataxia' (siza kuyibiza ngokuba yi-'SCA').

Yintoni i-'Spinocerebellar Ataxia (SCA)'? Masiyiqonde ngokulula.

I-Ataxia, ngokufutshane, yimeko apho ulahlekelwa kancinci kancinci amandla akho okulungelelanisa iintshukumo zomzimba wakho . Yinto echaphazela inkqubo yakho yemithambo-luvo kwaye iba mandundu ngokuhamba kwexesha. Khawuthelekelele ulahlekelwa ngamandla akho okuhambisa iingalo nemilenze yakho, ukuhamba, okanye ukubamba into ethile. Kukho iintlobo ezininzi ze-ataxia, nganye inezizathu zayo kunye neempawu zayo.

I-Spinocerebellar Ataxia (SCA) lolunye uhlobo lwe-ataxia, kwaye yimeko yemfuza . Ichaphazela kakhulu i-cerebellum yakho. I-cerebellum yinxalenye ebaluleke kakhulu yengqondo yakho. Ilawula izinto ezifana nokuhamba kwakho, ukubamba, kunye nokugcina ibhalansi yakho. Ngamanye amaxesha, i-SCA inokuchaphazela nomqolo wakho.

Ngenxa yokuba oku kukufuzwa, iimpawu ziyanda kancinci kancinci ngokuhamba kwexesha. Awuyi kubona mahluko mkhulu kwangoko. Oku kuchaphazela kakhulu:

• Ngenxa yomsebenzi wamehlo.
• Kwimisebenzi yesandla (umzekelo, ukubhala, ukubamba ikomityi, ukutya).
• Ukungasebenzi kakuhle kwemilenze kunye nokukwazi ukuhamba (ukulahlekelwa kukulinganisela).
• Indlela othetha ngayo (amagama ayaxanana).

Oko kuthethwayo kunempembelelo enkulu.

Zingaphi iintlobo ze-'SCA' ezikhoyo?

Okwangoku, oogqirha kunye nososayensi bafumanise iintlobo ezingaphezu kwama-40 ze-SCA. Eli nani lisenokunyuka kwixesha elizayo, njengoko uphando luqhubeka. Oogqirha babiza ezi ntlobo ze-SCA ngamanani. Umzekelo, i-Spinocerebellar Ataxia uhlobo 1, uhlobo 2, njalo njalo.

Izizathu kunye neempawu zazo zonke ezi ntlobo ze-SCA ziyafana kakhulu. Ngoko ke usenokuba uzibuza ukuba kutheni zibalwa. Amanani anikwe ngokulandelelana kotshintsho lwemfuza oluhambelana nohlobo ngalunye lwe-SCA. Ngamafutshane, i-SCA1 luhlobo lokuqala olufunyenweyo nolunxulunyaniswa nengxaki ye-chromosome edluliselwa kwizizukulwana ngezizukulwana. I-SCA2 luhlobo lwesibini olufunyenweyo. Yile ndlela abizwa ngayo.

Uhlobo oluqhelekileyo lwe-SCA yi-Spinocerebellar Ataxia uhlobo 3 (uhlobo lwe-SCA 3) . Ikwaziwa nangokuthi yi -Machado-Joseph disease .

Ngoko ke, ixhaphake kangakanani le `SCA`?

Enyanisweni, le meko ibizwa ngokuba yi-'SCA' ayiqhelekanga kakhulu.Oko kuthetha ukuba asisosifo esichaphazela wonke umntu. Ngokwezibalo, esi sifo sivela kumntu omnye (1) kwikhulu lamawaka, okanye abantu abahlanu (5) kuphela. Ke ngoko, kuyinto eqhelekileyo ukungasiva rhoqo.

Kutheni sifumana le `SCA`? Yintoni unobangela?

Eyona nto ibangela i-SCA kukuguquka kwezakhi zofuzo . Oku kuthetha ukuba kukho isiphene kwiizakhi zofuzo ozizuze kubazali bakho. Iingcali ziye zadibanisa ezi ziphene zezakhi zofuzo ezithile neentlobo ezininzi ze-SCA. Nangona kunjalo, ayizizo zonke iintlobo ze-SCA ezibangelwa kukuguquka kwezakhi zofuzo okufanayo, kodwa kukwahluka kwezakhi zofuzo ezahlukeneyo.

Ezinye iintlobo ze-SCA zibangelwa kukuba inxalenye ethile ye-DNA yakho (inxalenye egcina ulwazi lwethu lwemfuza) iphindaphindwa amaxesha angaqhelekanga. Oku kubizwa ngokuba yi-trinucleotide repeat expansion ngokwezonyango. Kunzima kancinci, kodwa ngokulula, kufana nokuba inxalenye ethile ye-gene ikopishwa amaxesha amaninzi kakhulu.

Kukho iindlela ezimbini eziphambili apho le meko 'ye-SCA' izuzwa njengelifa:

1. Ilifa Elilawulayo Le-Autosomal:

• Le yindlela i-SCA edla ngokuzuzwa ngayo njengelifa.
• Okwenzekayo kweli tyala kukuba nokuba uzuze esi jini siguqukileyo kumzali omnye kuphela , umama wakho okanye utata wakho, usenokufumana esi sifo.
• Oku kuthetha ukuba ukuba umntu one-'SCA' unomntwana, kukho ithuba elingama-50% lokuba loo mntwana uza kuzuza eli jini liguquliweyo. Cinga ngalo njengethuba lokuba ingqekembe iza kufika. Eli thuba liyafana kuwo wonke umntwana.

2. Ilifa le-Autosomal Recessive:

• Kukwakho neentlobo ze-'SCA' ezizuzwa ngolu hlobo, kodwa azixhaphakanga kangako.
• Kwimeko enjalo, ukuze umntu abe nale meko, kufuneka azuze esi sifuzo singaqhelekanga kumama nakutata wakhe.
• Kwiimeko ezininzi, aba bazali ababonisi zimpawu. Basenokuba ngabathwali be-gene. Banekopi enye kuphela ye-gene defect, ngoko ke ababi naso esi sifo.

Zithini iimpawu ze-SCA?

Iimpawu ze-SCA zihlala ziqala ukubonakala emva kweminyaka eli-18 ubudala. Nangona kunjalo, ezinye iintlobo ze-SCA zingaqala kwangethuba, kwaye ezinye zingaqala kamva. Asinto efika ngequbuliso, kodwa kancinci kancinci, emva kweminyaka, iimpawu ziba nzima ngakumbi.

Khawucinge nje, xa usiya kwenza iti uze ubambe iketile, isandla sakho siyangcangcazela aze amagqabi eti awe, okanye xa uhamba esitalatweni, umane utyibilika uye ecaleni uze uwe. Kunzima kakhulu xa unyuka unyuka izitebhisi. Ukuba ezi zinto zenzeka rhoqo, kubalulekile ukuzinyamekela.

Iimpawu eziqhelekileyo ze-SCA zezi:

• Iintshukumo zamehlo ezizenzekelayo:Kufana nokuba awukwazi ukugcina amehlo akho kwindawo enye, okanye ajika-jika ngokukhawuleza.
• Ukungasebenzi kakuhle kwesandla namehlo: Umzekelo, ubunzima bokubamba iglasi yamanzi kakuhle, ubunzima bokuqhobosha ihempe, okanye ubunzima bokubhala ngokucacileyo.
• Iingxaki zokulinganisela kunye nokulungelelanisa: Ukuhamba kunokuvakala ngathi uza kukhubeka okanye uwe lula. Kunokuba nzima nokuma uthe tye.
• Intetho engacacanga: Intetho engacacanga , apho amagama angenakubizwa kakuhle, nto leyo eyenza intetho ingacaci. Ngokungathi ibotshelelwe ulwimi.
• Ubunzima bokucubungula nokukhumbula ulwazi/ubunzima bokufunda: Ubunzima bokufunda izinto ezintsha, ukulibala ngokukhawuleza izinto ezithethiweyo, kunye nobunzima bokugxila.
• Ukuhamba ngokungacwangciswanga: Ukuhamba ngokungathi unxilile, ngokungathi awukwazi ukugcina iinyawo zakho zithe tye, ngokungathi uzama ukuhamba iinyawo zakho zisasazeke kakhulu.

Ezi mpawu zingahluka kumntu nomntu, kwaye ubukhali bazo bungahluka ngokuxhomekeke kuhlobo lwe-SCA.

Oogqirha bayixilonga njani i-SCA?

Ukuba unale mpawu, xa ubona ugqirha, ukuba bakrokrela ukuba une-SCA, baya kukuvavanya oku kulandelayo ukuze bafumanise ukuba unayo na le ngxaki:

• Imbali yosapho lwakho: Uza kubuzwa ukuba kukho umntu kusapho lwakho okhe waba nezi mpawu ngaphambili, okanye ukuba kukho umntu onayo le meko, i-SCA. Olu lwazi lubaluleke kakhulu kuba lusebenza kwiintsapho.
• Imbali yakho yezonyango: Baza kukubuza ngezinye izifo okhe wazifumana ngaphambili, amayeza owasebenzisayo, kunye nendlela ophila ngayo.
• Uvavanyo olupheleleyo lomzimba: Oku kuya kuquka uvavanyo olunxulumene ngqo nenkqubo yakho yemithambo-luvo. Luya kujonga ibhalansi yakho, ukuhamba, amandla eengalo zakho nemilenze, i-reflexes, intshukumo yamehlo, kunye nentetho.
• Baza kukuxilonga ngononophelo ukuze babone ukuba unazo na iimpawu ezinxulumene ne-SCA.

Emva kwezi zinto, kunokwenziwa olunye uvavanyo ukuqinisekisa isifo:

• Uvavanyo lwemfuza: Le yeyona ndlela iphambili yokwazi ngokuqinisekileyo ukuba une-SCA. Isampuli yegazi lakho (okanye mhlawumbi isampuli yamathe) iyathathwa ize ivavanywe i-gene ebangela i-SCA. Iintlobo ezininzi ze-SCA zinokufunyanwa ngolu vavanyo lwemfuza.
• Nangona kunjalo, kukho iintlobo ezithile ze-SCA ezingakhange zichongwe ukuba zinenguqu ethile yemfuza. Ngoko ke kwiimeko ezinjalo, kunzima ukuqinisekisa ngovavanyo lwemfuza lodwa.
• Kwimeko enjalo, oogqirha baya kujonga ubuchopho bakho ukuba akukho nto ingaqhelekanga.Kunokwenziwa iiskeni ezikhethekileyo. Eyona ixhaphakileyo yi- MRI scan (magnetic resonance imaging) . Oku kunokujonga naziphi na iimpawu zokuwohloka kwe-cerebellum yakho. Ngamanye amaxesha i-CT scan (computerized tomography) nayo inokwenziwa.

Kwakhona, abantu abacinga ukuba basenokuba bazuze uguquko lwezakhi zofuzo kuba umntu kusapho lwabo ene-SCA banokufumana olu vavanyo lwezakhi zofuzo. Oku kunokuba kubaluleke kakhulu kwabo baceba ukuqala usapho, oko kukuthi, abo baceba ukuba nabantwana, ukuba benze izigqibo. Kwakhona, xa umntwana eza kuzalwa, oko kukuthi, ngexesha lokukhulelwa, kunokwenzeka ukujonga ukuba umntwana unale meko (uvavanyo lwangaphambi kokuzalwa) .

Ngaba ikho indlela yokunyanga le 'SCA'? Ngaba inganyangeka?

Oku yinto wonke umntu afuna ukuyazi. Ngelishwa, okwangoku akukho nyango lwe-'Spinocerebellar Ataxia (SCA).' Ungaziva ukhathazekile xa usiva oku, kwaye oko kuqhelekile.

Nangona kunjalo, oko akuthethi ukuba akukho nto inokwenziwa. Iinjongo eziphambili zokunyanga i-SCA zezi:

• Ukunciphisa iimpawu.
• Ukuphucula umgangatho wobomi.
• Ukukunceda usebenze ngokuzimela ixesha elide kangangoko unako.

Oku kulandelayo kunokwenziwa njengonyango lwe-'Spinocerebellar Ataxia':

• Unyango lomzimba: Oku kubaluleke kakhulu. Ingcali yonyango lomzimba iya kukufundisa indlela yokuzilolonga ngokufanelekileyo, yomeleze izihlunu zakho, iphucule ibhalansi yakho, kwaye iphucule indlela yakho yokuhamba.
• Unyango lomsebenzi: Lukunceda ukuba udale imeko-bume yakho ukuze ukwazi ukwenza imisebenzi yemihla ngemihla (umz., ukutya, ukunxiba, ukubhala) ngokulula, kwaye lukufundisa iindlela zokukunceda wenze njalo.
• Unyango lokuthetha: Ukuba intetho ayicaci kakuhle okanye kukho ubunzima bokuginya amagama, ingcali yokuthetha inokunceda.
• Izixhobo zokuncedisa: Njengoko isifo siqhubeka kwaye ukuhamba kuba nzima, kunokufuneka usebenzise iintonga, i-walker, okanye i-wheelchair. Ezi zinokukunceda wenze izinto wedwa.
• Amayeza okunciphisa ezinye iimpawu: Oogqirha banokunika amayeza okunceda kwizinto ezifana nokungcangcazela, ukuqina, ukuxhuzula kwemisipha, ukungalali, kunye nokudakumba. Nangona kunjalo, la mayeza awanyangi i-SCA, alawula kuphela iimpawu.

Oogqirha nabaphandi basazama ukufumana unyango olutsha kunye neendlela zokunceda abantu abane-SCA, bayilawule, kwaye bafumane iindlela ezintsha zokuyinyanga. Ngoko ke musa ukuphelelwa lithemba.

Ngaba ikho indlela yokuthintela uphuhliso lwe-'SCA'?

Lo ngumbuzo obuzwa ngabantu abaninzi. Ukuba ndithetha inyani, okwangoku akukho ndlela iqinisekisiweyo yokuthintela i-SCA.Ngenxa yokuba oku kubangelwa kakhulu zizinto zemfuza, asinakuyithintela into yokuba ingenzeki ngokutya okanye ngokusela okanye ngokwenza umthambo.

Ezinye iintsapho, emva kokuba uvavanyo lwemfuza luqinisekisile ukuba zinalo olu tshintsho kwiintsapho zazo, zisenokugqiba ekubeni zingabi nabantwana. Le yindlela eqinisekileyo yokuthintela ukuba esi sifo singadluliselwa kwisizukulwana esilandelayo. Esi sisigqibo esinobuzaza kakhulu, somntu siqu. Kubaluleke kakhulu ukuthetha nomcebisi wemfuza ngaphambi kokuba wenze isigqibo esinjalo.

Yintoni enokulindelwa ngumntu one-SCA kwixesha elizayo?

Xa kufikwa kwikamva lomntu one-SCA, kubalulekile ukuqaphela ukuba iyahluka kakhulu kumntu nomntu . Kuxhomekeke kwizinto ezininzi, kuquka uhlobo lwe-SCA onayo, ubunzima bayo, kunye nobudala beempawu ezaqala ngabo.

Okubuhlungu kukuba, kwiimeko ezininzi ze-SCA, esi sifo siya sibi kancinci kancinci, nto leyo ekhokelela ekufeni kwangethuba.

Indlela ekhawuleza ngayo imeko ikhula iyahluka ngokuxhomekeke kuhlobo kunye nobunzima be-SCA. Ngoko ke, uvavanyo lwemfuza lunokunceda ekufumaniseni kungekuphela nje ukuba siyintoni esi sifo, kodwa nokuba ikamva liphethe ntoni.

Abantu abaninzi banokudinga isitulo esinamavili emva kweminyaka eli-10 ukuya kweli-15 emva kokuba iimpawu zokuqala ziqalile. Kuqhelekile ukuba abantu abane-SCA ekugqibeleni bafune uncedo ngemisebenzi yemihla ngemihla, efana nokuhlamba, ukunxiba, nokulungiselela ukutya.

Yintoni enye endifanele ndiyibuze ugqirha wam malunga ne-SCA?

Ukuba une-'Spinocerebellar Ataxia (SCA)' okanye ukuba kukho umntu kusapho lwakho onayo, kubaluleke kakhulu ukubuza ugqirha wakho le mibuzo:

• Luhlobo luni lwe-'SCA' endinalo kanye kanye? (umz. `SCA1, SCA2, SCA3`?)
• Yeyiphi imisebenzi emzimbeni wam echaphazeleka kakhulu lolu hlobo lwe-'SCA'?
• Ngabaphi oochwephesha (umz. ingcali yezifo zengqondo, ingcali yezonyango) endifanele ndibabone ukuze ndilawule le meko?
• Ndifanele ndiye kangaphi ukuze ndihlolwe ngugqirha? Zeziphi iimvavanyo ezikhethekileyo ekufuneka ndizenze?
• Ziziphi iindlela zonyango ezikhoyo ngoku? Zithini iingenelo?
• Ngaba le meko ingabufutshane ubomi bam? (Lo ngumbuzo onzima ukuwubuza, kodwa kubalulekile ukwazi.)
• Ingaba kunokwenzeka ukuba abantwana bam bafumane esi sifo njengelifa? Ukuba kunjalo, mangakanani amathuba okuba sifumaneke?
• Ingaba yinto elungileyo na ukuba amanye amalungu osapho lwam (umz. abantakwethu, abantwana) afumane uvavanyo lwemfuza?
• Ngawaphi amaqela enkxaso owaziyo anokundinceda ndijamelane nale meko ndize ndihlale ndomelele engqondweni? Ngaba kukho amaqela anjalo eSri Lanka?

Musa ukoyika ukubuza le mibuzo. Okukhona uyiqonda ngcono imeko yakho, kokukhona kuya kuba lula kuwe ukujongana nayo.

Ndingenza ntoni ukuze ndiphile kakuhle ne-SCA?

Kuqhelekile ukuba nemibuzo emininzi, uloyiko, usizi, nomsindo xa ufumanisa ukuba une-SCA. Kuyafana nakubantu bonke. Awuwedwa. Oku kulandelayo kunokukunceda ujongane nale meko inzima kwaye uyilawule ngcono kancinci:

• Cela uncedo nenkxaso kubantu obathembayo nabasondeleyo kubo (usapho, abahlobo) . Musa ukulwa nezi zinto wedwa. Yabelana nabo ngeemvakalelo zakho.
• Yiba yinxalenye esebenzayo kunyango lwakho . Yiya kugqirha wakho, ulandele imiyalelo yakhe ngononophelo, ubuze nayiphi na imibuzo onayo, kwaye wenze izinto ezifana nonyango lomzimba.
• Cinga ngokuthetha nomcebisi wezempilo yengqondo okanye ugqirha wengqondo . Banokukunceda ujongane nale meko, ufunde indlela yokujongana nayo, kwaye ube namandla engqondweni.
• Musa ukuzifihla iimvakalelo zakho, ungazihoyi . Lila ukuba ulusizi, zibonakalise ukuba unomsindo (kodwa ngendlela engabakhathazi abanye).
• Ukuba kunokwenzeka, joyina iqela lenkxaso apho unokudibana khona nabanye abajongene nemingeni efana neyakho. Oku kuya kukunceda uzive ungedwa kwaye ungafunda nakwizinto abanye abantu abazivayo.
• Yiba nolindelo olusengqiqweni . Qonda into onokuyenza nongenakuyenza. Kusenokufuneka uyeke ezinye izinto, ngoko ke lungela loo nto.
• Endaweni yokuba uzive ulusizi ngokungakwazi ukwenza izinto obukade ukwazi ukuzenza, gxila kwizinto osakwazi ukuzenza . Zama ukwaneliseka zizinto ezincinci.
• Yitya ukutya okunempilo nokunesondlo, qhelisa umzimba kangangoko unako, kwaye ulale ngokwaneleyo. Ezi zinto zilungile kwimpilo yakho iyonke.

Khumbula, i-SCA yinxalenye nje yobomi bakho. Musa ukuyivumela ukuba ikuchaze ngokupheleleyo. Usenosapho olunothando, abahlobo, kunye nezinto osenokuzenza.

Ngoko ke, yintoni esifanele siyithathele ekhaya kweli bali?

I-Spinocerebellar Ataxia (SCA) yimeko yemfuza echaphazela ingqondo kwaye ngamanye amaxesha umqolo. Ichaphazela kakhulu ulungelelwaniso lomzimba kunye nokulungelelaniswa kweentshukumo. Le meko iba mandundu kancinci kancinci ngokuhamba kwexesha.

Eyona nto ibalulekileyo yile:

• Okwangoku akukho nyango lukhethekileyo lwe-SCA. Nangona kunjalo, kukho unyango (olufana nonyango lomzimba, izixhobo zokuncedisa, kunye namayeza) ukulawula iimpawu nokwenza ubomi bube lula.
• Ukuba uneempawu ezinxulumene ne-'SCA', funa ingcebiso kagqirha ngoko nangoko . Ukufumana uxilongo kwangethuba kuyakunceda ukuba uqale unyango.
• Ekubeni esi sisifo semfuza, kubalulekile ukuba usapho lukwazi oku, kwaye ukuba kuyimfuneko, lufumane iingcebiso kunye novavanyo lwemfuza .
• Ukuhlala ne-SCA ngumceli mngeni. Kodwa ke kunzima.Ngeengcebiso ezifanelekileyo zonyango, inkxaso yosapho, kunye namandla engqondo, olu hambo lunokuphunyezwa.

Ukuba unemibuzo engaphezulu malunga noku, ungathandabuzi ukuthetha nogqirha wakho.

I- spinocerebellar ataxia, i-SCA, i-ataxia, ibhalansi, inkqubo yemithambo-luvo, izifo zemfuza, i-cerebellum, isifo sikaMachado-Joseph