I-chorea yaseHuntington yintlupheko yesifo esizalwe ngumntwana, ihamba kunye nembonakalo yokunyakaza okungenakuzikhethela, ukuhla kweengqondo kunye nokuphuhliswa kwengxaki yengqondo. Isi sifo singakhula kumadoda nakwabasetyhini nakunoma yiphi na ubudala, kodwa ngokuqhelekileyo iimpawu zokuqala ze-chorea zikaHuntington zivela kwiminyaka yobudala engama-35 ukuya kuma-40.
Izibonakaliso zezifo zikaHuntington
Uphawu oluphambili lweklinikhi yesifo sikaHuntington luyi-chorea, ebonakaliswa yiminyango engavaliyo kwaye engalawulwayo. Ekuqaleni, ezi ziphazamiso ezincinci ekusebenzisaneni kunye nokunyuka kwezandla okanye iinyawo. Ezi ntshukumo zingaba zicotha okanye ziphawuleze. Kancinci, bayibamba umzimba wonke baze bahlale bathule, badle okanye bagqoke kuba nzima. Emva koko, ezinye iimpawu zesifo sikaHuntington ziqala ukuxhamla kule mpawu:
- iingxaki kwinkqubo yokuhlafuna nokugwinya;
- ukungalungi kwentetho;
- iingxaki zokulala;
- ukuphulwa kwetoni yomsila.
Kwisigaba sokuqala, kunokubakho ubunzima obuncinane bomntu kunye nemisebenzi yokuqonda. Umzekelo, isiguli sinokuphulwa kwemisebenzi yokucinga okungabonakaliyo. Ngenxa yoko, akayi kuceba amanyathelo, awenze kwaye anike uvavanyo olwaneleyo. Emva koko iziphazamiso ziba nzima kakhulu: umntu uyaba nobudlova, afune ukukhutshwa ngokwesondo, afune ukuzibandakanya, azivelele kwaye asebenzise umlutha (utshatywala, ukugembula).
Ukuxilongwa kwezifo zikaHuntington
Ukuxilongwa kwe-Huntington's syndrome kwenziwa ngeendlela ezahlukeneyo zokuhlolwa kwengqondo kunye nokuhlolwa komzimba. Phakathi kweendlela zokwenza izinto, indawo ephambili ibanjwe ngumbono wamagnetic resonance kunye negraphic tomography. Ngoncedo lwabo unokubona indawo yokulimala kwengqondo.
Ukuhlolwa kwe-Genetic kusetyenziswa kwiindlela zokuhlola. Ukuba ngaphezulu kwe-38 trinucleotide i-residues ye-CAG ifunyanwe kwi-gene ye-HD, isifo sikaHuntington siya kugqitywa kwi-100% yamatyala. Kule meko, incinci inani leentsalela, kamva kwimpilo kamva iya kubonakalisa i-chorea.
Unyango lweZifo zikaHuntington
Ngelishwa, isifo sikaHuntington asipheli. Okwangoku, ekulweni nesi sifo, kusetyenziswe kuphela unyango olumqondiso, olwenza ukuba imeko yesigulane ibe lula.
Isiza esona sisisigxina, esenza buthathaka izifo zesifo, yiTetrabenazine. Kwakhona kwonyango zichasene nezidakamizwa zeParkinsonian:
- Bromocriptine;
- Levodopa;
- Pergolid.
Ukuphelisa i-hyperkinesia kunye nokunciphisa uxinzelelo lwe-muscle, i-valproic acid isetyenziswa. Unyango lokudakumba kwesi sifo senziwa ngeProzac, Citalopram, Zoloft kunye nezinye i-serotonin e-reuptake inhibitors. Xa kuphuhliswa kwengqondo, i-antipsychotics ye-atypical (Risperidone, Clozapine okanye i-Amisulpride) isetyenziswa.
Ukulindela ubomi ebantwini abahluphekileyo ngesifo sikaHuntington kuncitshiswa kakhulu. Ukususela ngexesha lokubonakala kweempawu zokuqala zalesi sifo ekufeni kungadlula iminyaka eyi-15 kuphela. Ngelo xesha, elibulalayo
- iinzame zokuzibulala;
- pneumonia;
- ukukhubazeka kwentliziyo.
Ngenxa yokuba esi sifo sesifo, ukuthintela ngokwayo akukho. Kodwa ukususela ekusebenziseni iindlela zokuhlola (ukuhlalutya ngaphambi kokubeletha kunye nohlalutyo lwe-DNA) akuyimfuneko ukunqanda, kuba ukuba kumanyathelo okuqala okuqala unyango olumqondiso, unokwandisa kakhulu ubomi bomguli.