Angelman chirwere

Angelman syndrome (AS) chiitiko chemajini chinokonzeresa matambudziko nemaitiro emuviri wemwana nehuropi. Iyo chirwere chiripo kubva pakuberekwa (kuberekwa). Zvisinei, kazhinji haina kuongororwa kusvikira pamwedzi inenge mitanhatu kusvika kugumi nemiviri yezera. Apa ndipo apo matambudziko ekuvandudza anotanga kucherechedzwa kazhinji.

Aya mamiriro anosanganisira geni UBE3A.

Magen'a mazhinji anouya ari maviri. Vana vanogamuchira mumwe kubva kumubereki mumwe nemumwe. Kazhinji kazhinji, majini ese ari maviri ari kushanda. Izvi zvinoreva ruzivo kubva kumageneti ese ari maviri anoshandiswa nemaseru. Iine iyo UBE3A geni, vaviri vabereki vanozvipfuudza, asi chete iro jeni rakapfuudzwa kubva kuna amai ndiro rinoshanda.

Angelman syndrome inowanzoitika nekuti UBE3A akapfuudzwa kubva kuna amai haashande nenzira yaanofanirwa kuita. Mune zvimwe zviitiko, AS inokonzereswa kana maviri makopi e UBE3A geni rinobva kuna baba, uye hapana rinobva kuna amai. Izvi zvinoreva kuti hapana gene rinoshanda, nekuti ese ari maviri anobva kuna baba.

Mune vacheche nevacheche:

• Kurasikirwa kwemhasuru toni (kubhururuka)
• Dambudziko rekudyisa
• Kushungurudza (acid reflux)
• Kubvunda ruoko nemakumbo kufamba

Muvacheche nevana vakuru:

• Kufamba kana kusagadzikana kufamba
• Kutaura kudiki kana kusaita
• Unofara, hunhu hunhu
• Kuseka uye kunyemwerera kazhinji
• Chiedza chebvudzi, ganda, uye ziso ruvara zvichienzaniswa nemamwe ese emhuri
• Musoro mudiki saizi uchienzaniswa nemuviri, wakapetwa kumashure kwemusoro
• Kuremara kwakakomba kwepfungwa
• Kufenda
• Kufambisa kwakanyanya kwemaoko nemakumbo
• Zvinetso zvekurara
• Rurimi rwunokandirana, runodonhedza mate
• Kusina kujairika kutsenga uye kushama muromo
• Maziso akayambuka
• Kufamba nemaoko akasimudzwa uye maoko achipuruzira

Vazhinji vana vane chirwere ichi havaratidze zviratidzo kusvika pamwedzi mitanhatu kusvika gumi nemiviri. Apa ndipo apo vabereki vanogona kuona kunonoka mukukura kwemwana wavo, sekusagwesha kana kutanga kutaura.

Vana vari pakati pemakore maviri kusvika mashanu ezera vanotanga kuratidza zviratidzo zvakaita sekufamba zvisina kujeka, hunhu hunofadza, kuseka kazhinji, pasina kutaura, uye matambudziko ehungwaru.

Genetic bvunzo dzinogona kuongorora Angelman syndrome. Iyi bvunzo inotarisa:

• Zvikamu zvisipo zvemakromosomes
• Chiyero cheDNA kuti uone kana makopi ejeni kubva kuvabereki vese ari mune isingashande kana inoshanda
• Gene shanduko mukopi yaamai yeiyo geni

Mimwe bvunzo inogona kusanganisira:

• Ubongo MRI
• EEG
  

Iko hakuna mushonga weAngelman syndrome. Kurapa kunobatsira kugadzirisa matambudziko ehutano uye ekuvandudza anokonzerwa nemamiriro acho.

• Mishonga yeanticonvulsant inobatsira kudzora kubatwa
• Maitiro ekurapa anobatsira kubata kusagadzikana, matambudziko ekurara, uye matambudziko ekuvandudza
• Yekurapa pabasa neyekutaura inogadzirisa matambudziko ekutaura uye kudzidzisa hunyanzvi hwekugara
• Kurapa kwepanyama kunobatsira nematambudziko ekufamba uye kufamba
  

Angelman Syndrome Foundation: www.angelman.org

AngelmanUK: www.angelmanuk.org

Vanhu vane AS vanogara padyo nehupenyu hwakajairwa. Vazhinji vane hushamwari uye vanofambidzana nevamwe. Kurapa kunobatsira kuvandudza mashandiro. Vanhu vane AS havagone kurarama vega. Nekudaro, ivo vanogona kugona kudzidza mamwe mabasa uye kugara nevamwe munzvimbo yakatarisirwa.

Zvinetso zvinogona kusanganisira:

• Kufenda kwakanyanya
• Gastroesophageal Reflux (chirungurira)
• Scoliosis (yakakomberedzwa musana)
• Kukuvara netsaona nekuda kwekufamba kusingadzorwe

Fonera wako mupi wezvehutano kana mwana wako aine zviratidzo zveichi chiitiko.

Iko hakuna nzira yekudzivirira Angelman syndrome. Kana iwe uine mwana ane AS kana nhoroondo yemhuri yemamiriro acho, iwe ungangoda kutaura nemupi wako usati wava nepamuviri.

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Kumar V, Abbas AK, Aster JC. Genetic uye chirwere chevana. Mune: Kumar V, Abbas AK, Aster JC, eds. Robbins Basic Pathology. 10th ed. Philadelphia, PA: Elsevier; 2018: chits. 7.

Madan-Khetarpal S, Arnold G. Matambudziko eGenetic uye mamiriro edysmorphic. Mune: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli naDavis 'Atlas yePediatric Panyama Kuongorora. 7th ed. Philadelphia, PA: Elsevier; 2018: chits. 1.

Nussbaum RL, McInnes RR, Willard HF. Iyo chromosomal uye genomic hwaro hwechirwere: kusagadzikana kwema autosomes uye echromosomes ebonde. Mune: Nussbaum RL, McInnes RR, Willard HF, eds. Thompson & Thompson Genetics muMushonga. 8th ed. Philadelphia, PA: Elsevier; 2016: chits.