Angelman urwere

Angelman chirwere ane majini anomaly (chromosomal mutation), kunoguma kunonoka kukura mupfungwa, sezvo insufficiently kuumbwa kufema ezvinhu, iyo anovandudza neurobiological hurongwa. Saka, munhu ane kakawanda kuseka, sechisina musoro fambisa maoko, nezvipusha, hope anetseka. chirwere ichi hapangapori, asi kuvandudzika zvinogoneka chete chiitiko kuti vagutse kwomunhu kudiwa oxygen.

The chirwere anooneka somugumisiro vaingoerekana chromosome rakaremara, nokuda mumwe mutation ari Gene, pane zvimwe kudzikisirana yacho enzayemu mapuroteni.

To musi, Angelman chirwere rinowanikwa mune imwe kubva vachangoberekwa zviuru makumi maviri. It kunoratidzwa:

1. Zvinetso pamwe achiyamwa, nekuti izvi zvinoda Kufambisa kufema zvakanaka, kuitira kudzivisa chido. Saka, vana vasiri zvakakwana uremu.

2. kunonoka kukura vakawanda injini unyanzvi, kutaura, kufunga. Pane dambudziko ravo kudzidziswa.

3. 80% nyaya symptomatic netsviyo. Kune chakamira pakunodengenyeka zvine, uye uncoordinated kufamba yayo, kugwinha kuitika, izvo zvinogona zvose tsandanyama dzomuviri, kana somunhu patchy kurasikirwa chavanoziva.

4. kuseka uye kunyemwerera pasina chikonzero.

5. kutyora zviri zvinonyatsorehwa kukura - isiri kukura musoro uye chiso features, squint, curvature pamusoro nomuzongoza.

Angelman chirwere kunokwanisa kuonekwa nevanhu magene kuongorora rechi15 chromosome. Rinoshandiswa kana pane iri shoma tsandanyama mukatanga navacheche, kunonoka kutaura kukura uye injini unyanzvi, uyewo rakakurumbira yakanaka tremor, mugari muzvidimbu kufamba, kakawanda kuseka kana achifamba makumbo zvichiitika. Uyewo chinobatsira DNA methylation, mutation kuongorora uye pakati imprintingvogo UBE3A Gene.

To musi, kurapwa chirwere ichi havana dzakabudirira. Asi pane anoverengeka mabasa zvainanga pokumuka vana chepfungwa retardation, uyewo kuwedzera upenyu hwavo.

Somuenzaniso, makirasi pamwe defectology uye kutaura kurapa, panyama kurapa inoshandiswa kana tsandanyama hypotonia, uye hypnotics nachiremba hope zvirwere. In kurwiswa vaishandisa kuchirapa yomuchipatara zvakafanana mune nepfari (anticonvulsants). Nokuti kuramba kunowanzoitika kushanda muura anoshandiswa laxatives.

Uchibata pamwe nevana kubva vaduku, achishandisa mapurogiramu chaiyo kuti pfungwa kukura injini unyanzvi, anogona kuzadzisa migumisiro yakanaka.

Tarisiro kukura vanhu chirwere zvinoenderana sei mwoyo namashanu chromosome. Vamwe vanodzidza uye unyanzvi dzokuzvikoshesa basa yakaderera pamwero, vamwe havazombokwanisi kutaura uye ufambe.

Saka, vana vane Angelman urwere, dzinoratidzwa zvimwe zvinoitwa maitiro: impulsivity, autostimulyatsiya, kuoma mukukurukurirana vanhu. Uye kunyange zvazvo vazhinji vavo kungava zvachose ndisipo, vose kazhinji ushamwari, vakanaka, vanoda kutamba, saka zvinokurudzirwa kuvadzidzisa mutauro wemasaini, saka kuti vakakwanisa kutaura kuvanhu.

munhu Makuriro chirwere kwakadaro kunoda dzidzo chaiyo kubva kare matanho, sezvo nezera dambudziko iri chete kukura. Kuzvibata kwevanhu kuchiri vatorwa, vari kuratidzwa chete nemasaini uye ruzha zvinogona hasha kana kusanzwisisana. Mhuri apo pane vana Angelman chirwere vanowanzotambura kubva kushayikwa pakukurukurirana, asi zvinofanira kuyeukwa kuti varwere vanofanira vakombe mhepo yokufarirwa uye dzinovapa nokungwarira uye kurapwa zvakakodzera, uye ipapo tinogona kuzadzisa nemigumisiro yakanaka.