Iyo European portal ye zvirwere zvisingawanzoitiki nemishonga yenherera inotsanangura Angelma syndromen se "neurogenetic disorder inoratidzwa nekukanganisa kwakanyanya kwenjere uye kusiyanisa kwechiso dysmorphic features." Sezvingatarisirwa, kuwanda kwepasirese kuri pakati pe1/10.000 ne1/20.000.
Ndiko kuti, kune vanhu vashoma pasi rose vane chirwere ichi chisingawanzoitiki. MuSpain, vanhu vanosvika zviuru mazana maviri vanorwara nazvo, asi kune vazhinji vasina kubatwa, saka kune mazana mana emhosva.
Hunhu hweAngelman syndrome
Kunyangwe chiri chimwe chezvirwere zvisingawanzo kuitika uye nehuwandu hwakaderera muhuwandu, hapana anosunungurwa kubva mukutambura nechirwere ichi. Icho chirwere che genetic chinokonzera kunonoka mukukura, zvakare kunobatanidza nekutaura uye kuenzana matambudziko. At Angelman chirwere Kuremara kwenjere kunoonekwawo uye, dzimwe nguva, kutaridzika kwepfari.
Chirwere chisingarapike kunyangwe chiine fungidziro yakanaka maererano nehupenyu hunotarisirwa sezvo hunenge hwakajairika. Vanhu vane Angelman chirwere Havaregi kuva noupenyu hunofadza, kunyange zvazvo vaine ganhuriro dzose idzi, vanowanzonyemwerera uye kuseka, kunyange zvazvo vachifanirawo kurarama neganhuriro dzakawanda nezvinetso zvine chokuita nehosha yacho.
Pakati pe Angelman Syndrome zviratidzo zvinotevera zvinoonekwa:
- Kunonoka kwekusimudzira (kunosanganisira kusakambaira kana kubhutsura pakati pemwedzi mitanhatu negumi nemiviri)
- Kunetseka kwepfungwa
- Hapana kutaura kana kutaura kushoma
- Kutadza kufamba, kufamba, kana kuenzanisa zvakanaka
- Kugara uchinyemwerera uye kuseka
- Kufara uye kufarira hunhu
- Kunetsa kurara nekurara
Vanhu vazhinji vane syndrome havana genetic nhoroondo, izvo zvingaratidza kuti chirwere chisingawanzoitiki uye chisingawanzoitiki.
Tsvaga Angelman syndrome
Tsvaga Angelman syndrome hazvisi nyore. Pakutanga, vabereki vanotanga kunyoresa kumwe kunonoka mumaitiro evacheche vavo, kunyanya kana vachienzaniswa nezvakaitika kune vakoma vakuru kana nevamwe vana. Kunonoka kukura kunooneka pakati pemwedzi mitanhatu negumi nemiviri yezera uye apa ndipo apo vabereki vanowanzobvunza, zvichida nemhaka yokuti mucheche haasi kukambaira kana kuti kubhuya. Ukuwo, kune vana vanotanga kuita pfari vava nemakore maviri kana matatu. Kunonoka kwekukura ndicho chiratidzo chinonyanya kuoneka, chimwe chinhu chinowedzera kana mwana achikura uye haagadziri humwe hunyanzvi hwezera rega rega.
Vanhu avo kurwara nechirwere Mukuwedzera pakuratidza kunonoka kwekukura, vanopa mamwe maitiro eAngelman disorder akadai se:
- Mafambiro akaomarara kana anotsemuka
- Musoro mudiki, une chikamu chakati sandara kumashure kwemusoro
- Kupindirana kwemitauro
- Bvudzi, ganda, uye maziso ane ruvara rwakajeka
- Maitiro asina kujairika, akadai sekurovanisa maoko nekusimudza maoko kana uchifamba
- Zvinetso zvekurara
Zvikonzero uye matambudziko
Sezvinozivikanwa, the Angelman chirwere Inokonzerwa nekuchinja kwemajini, iri pachromosome 15, kureva, mujeni rinobudisa ubiquitin ligase E3A protein (UBE3A). Kunyange zvazvo mumamiriro ezvinhu akajairika, "fetus" inowana majini kubva kune imwe kopi yemajini aamai uye imwe kubva kune yababa, muchiitiko chechirwere ichi zvinoita sekunge kopi yaamai chete yejeni iri inoshanda. kusipo kana kukuvadzwa. Muzviitiko zvishomanana chete, aya makopi maviri ejini rababa, sezvo kazhinji makopi ese ari ejini raamai.
Pamusana pekusagadzikana kwechirwere, hazvibviri kudzivirira, kunze kwekuti mwana akwegura achitambura nechirwere uye, kubva pane izvozvo, geneticist inobvunzurudzwa asati ava nepamuviri zvakare.
Zvinosuruvarisa, vanhu vane Angelman syndrome vanogona kuva nematambudziko akawanda akadai
- Kudyisa matambudziko
- Hyperactivity uye kutarisisa kwenguva pfupi. Hyperactivity inoderera nezera.
- Matambudziko ehope. Vana vanowanzoda maawa mashoma okurara kupfuura vanhu vakawanda, kunyange zvazvo izvi zvichiva zvenguva dzose nezera. Chimwe chinhu chinogonawo kubatsirwa nemishonga uye nemishonga yakasiyana.
- Scoliosis
- Kufutisa