I-Chorea Huntington iyisifo esingelapheki se-genetic yesimiso sezinzwa esingathuthuka kokubili ebuntwaneni nasekukhuleni, kodwa ngokuvamile kuvame ukubonakala kubantu abaneminyaka engama-30 kuya kweyengu-50. Lesi yisifo esibucayi, esiqhubeka kancane, esichazwa ngezinqubo ezihlukahlukene zokuguga emzimbeni, ezithinta ubuchopho ngaphezulu.
Izimbangela ze-chorea kaHuntington
Njengoba sekuphawuliwe, i-chorea kaHuntington isifo sofuzo, ngakho-ke sizuzwa njengefa kubazali abagulayo. Uhlobo lwefa le-chorea likaHuntington liyi-autosomal ephezulu. Ukukhubazeka kuvame kakhulu emadodeni. Kuyaziwa ukuthi indima ethile ekuthuthukiseni i-chorea kaHuntington idlalwe yizifo ezithathelwanayo, ukulimala, ukudakwa kwezidakamizwa.
I-gene hantingtin, etholakala kubo bonke abantu kwi-chromosome yesine, inesibopho sokubhaliswa kweprotheni engavamile, imisebenzi yawo engaziwa nakanjani namhlanje. Le phrotheni itholakala kuma-neurons wezingxenye ezehlukene zobuchopho. Lesi sifo siqala lapho isakhi sishintsha ngenxa yokwandisa uketshezi lwe-amino acid. Uma inani elithile lama-amino acid lifinyelelwa, amaprotheni aqala ukwenza umphumela onobuthi kumaseli omzimba.
Izimpawu zeChorea kaHuntington
Lesi sifo sibonakala ngezimpawu ezikhulayo kancane kancane, ezihlanganisa:
- ukuphazamiseka kwengqondo - kunciphisa inkumbulo, ukunakekelwa, ikhono lokucabanga, ushintsho lomuntu;
- ukuphazamiseka ngokomzimba - hyperkinesis ye-choreic, ekhonjiswe ngokunyakaza okusheshayo, okungaqondakali nokungavamile kwamaqembu e-muscle ahlukene (ngokuyinhloko, ukuxubha okungenalutho kwemisipha yobuso, izingalo namahlombe, ukunyakaza kwe-spasmodic kwamehlo, izinguquko ku-gait);
- inzima, inkulumo ephikisiwe;
- ukuphazamiseka kokulala ;
- ubunzima bokunyakaza okuzithandela;
- ukunciphisa ukugxeka ekuziphatheni komuntu nesimo sakhe;
- ukuhlaselwa okungenangqondo kokwesaba, ukunganakwa nokucindezeleka ;
- imikhuba emibi eyengeziwe;
- ukuxhumene kocansi;
- ukuthuthukiswa kwesifo sengqondo somqondo (ukucindezeleka komqondo);
- izidakamizwa ze-endocrine kanye neurotrophic.
Phakathi kokubonakala kwezimpawu ze-neurological and psychopathological kungase kube khona igebe leminyaka eminingana. Ngokuhamba kwesikhathi, izinkinga ezihlukahlukene zithuthuka: ukuhluleka kwenhliziyo, ukuphazamiseka kwe-pneumonia, i-cachexia. Ukulindeleka kokuphila kweziguli ezine-chorea kaHuntington kuhlukile, kodwa ngokwesilinganiso cishe iminyaka engu-15. Ukufa okuvame kakhulu kubangelwa izinkinga.
Ukwelashwa kwe-chorea kaHuntington
Okwamanje lesi sifo sibhekwa singelapheki. Imithi inganciphisa ukuqhubeka kwayo, futhi iyanciphise ukubonakaliswa kwezimpawu ezinciphisa izinga lokuphila. Kuze kube sekugcineni, iziguli zinikezwa inani lemithi, okufaka:
- I-Tetrabenazine - ithuluzi elithuthukile ngokukhethekile lokunciphisa ubukhulu bezimpawu ze-chorea kaHuntington;
- izindlela ze-antiparkinsonian - ukusiza i-hypokinesia nokuqina kwemisipha;
- i-valproic acid - ukukhulula i-hyperkinesia ye-myoclonic;
- i-serotonin i-reuptake inhibitors ne-mirtazapine - ukuqeda ukucindezeleka okukhulu;
- antipsychotics e-atypical - nge-psychoses nokuphazamiseka kokuziphatha;
- i-neuroleptics ne-benzodiazepines - ukunciphisa ukubonakaliswa kwe-chorea;
- abaphikisi be-dopamine - ukuvimbela i-hyperkinesis;
- Amalungiselelo e-valproic acid - ngamagundane e-myoclonic.
Ezinye zezidakamizwa ezingenhla zivinjelwe ukuze zisebenzise ezweni lethu, naphezu kokusebenza kahle kwazo. Ngakho-ke, iziguli eziningi ziya emitholampilo ekhethekile emaphandleni angaphandle ukuze zithole ukwelashwa.