Mwana wako anongoerekana agwinha-gwinha uye aoma here? Ngatidzidzei nezve hyperekplexia iyi!

Mwana wako achangoberekwa kana mwana mudiki anongoerekana avhunduka nekunzwa ruzha kana kubatwa zvishoma here? Anotanga kuomarara onzwa sekunge ari kurohwa nedombo here? Anonzwa kufema zvishoma here? Kana wakamboona chimwe chinhu chakadai, chinogona kunge chiri chirwere chinonzi Hyperekplexia. Usazvidya moyo, tichataura nezvazvo zvakadzama.

Chii chinonzi hyperekplexia iyi?

Zvichitaurwa zviri nyore, Hyperekplexia chirwere chisingawanzoitiki chetsinga. Apa ndipo apo tsandanyama dzemwana wako dzinooma zvakanyanya (zvinonzi "Hypertonia"). Saka, vanoomerwa nekufambisa tsandanyama dzavo zvakanaka.

Pamusoro pezvo, vana ava vanoratidza kushamisika kwakanyanya kana zvinhu zvisingatarisirwi zvichingoerekana zvaitika (sekunge ruzha, kubata, kana kufamba). Kushamisika uku kunogona kukonzera kuti muviri ugwinhe uye maziso abwaire. Mushure mekushamisika uku, muviri wemwana unova wakaoma kwenguva yakati, uye havazokwanisi kufamba. Chinhu chine njodzi zvikuru ndechekuti vamwe vacheche vanogona kumira kufema panguva ino. Kana izvi zvikaramba zvichiitika, zvinogona kuisa hupenyu panjodzi. Dzimwe nguva chirwere ichi chinogona kunge chakabatana neSudden Infant Death Syndrome (SIDS).

Vanachiremba vanowanzoona chirwere ichi muvana vachangoberekwa, kungave vasati vaberekwa kana kuti mushure mekuzvarwa. Zvisinei, chirwere ichi, chinonzi hyperekplexia, chinogona kuitikawo kuvana nevakuru.

Kune mamwe mazita akati wandei echirwere ichi:

• Chirwere chemunhu akasimba (`(Congenital stiff-person syndrome)`)
• Kuwedzeredza kweropa (`(Kuwedzeredza kweropa)`)
• Chirwere chekutya
• Chirwere cheStartle (`(chirwere cheStartle)`)
• Chirwere chemwana akaomarara

Dambudziko iri rakajairika zvakadii?

Izvi hazviwanzoitiki. Fungidzira, kunyangwe munyika yakaita seAmerica, chirwere ichi chinoonekwa nevanhu vanosvika 1 pavanhu 40,000. Saka ichi chinhu chisingawanzoitiki muSri Lanka zvakare.

Ndezvipi zviratidzo zveHyperekplexia?

Kune mhando mbiri huru dzechirwere ichi: Chimiro chikuru nechimiro chidiki.

Maitiro makuru

Apa ndipo paunongoerekana wavhunduka, usingatarisiri, nenzira isingawanzoitiki pakubata, kufamba, kana ruzha. Paunovhunduka, unogona kunzwa musoro wako uchidzokera shure, muviri wako uchizununguka woita mafambiro asingawanzoitiki, kana kuti muviri wako uchioma wodonha pasi sedombo.

Kana mwana arara, anogona kunge aine mafambiro ekusvetuka-svetuka. Pamusoro pezvo, hypertonia inowanzoonekwa pakati pevacheche vane chirwere ichi. Vanogonawo kufamba zvishoma nezvishoma (zvinonzi hypokinesia) uye vanogona kunge vaine hurema hwepfungwa hushoma .

Zvimwe zviratidzo zvinogona kuitika muvacheche, vana, nevakuru vane chirwere ichi chikuru che hyperekplexia zvinosanganisira:

• Hyperreflexia (kufembera kwakanyanya)
• Kumbomira kufema nguva nenguva (anpnea)
• Kufamba kusina kugadzikana (kufamba kusina kugadzikana)
• Kubuda kwehudyu pakuzvarwa
• Matumbu emugumbo.

Chimiro chidiki

Muchimiro ichi chinyoro, vanhu vane hyperekplexia vanowanzo sangana nekushamisika kushoma uye kwakanyanya. Zvimwe zviratidzo zvinogona kunge zvishoma kana kuti zvisipo. Muvacheche, kudhonza kunogona kuwedzera kana vaine fivha . Muvana nevakuru, kudhonza kunogona kuwedzera zvakanyanya nekuda kwekushushikana kana kuzvidya mwoyo .

Zviratidzo zvemhando mbiri idzi zvinowanzotanga pakuzvarwa, asi kune vamwe vanhu, zvinotanga kuoneka pava paya paudiki kana kuti pakukura.

Sei hyperekplexia iyi ichiitika?

Chikonzero chikuru cheizvi ikuchinja kwemajini. Sezvakawanikwa, majini mashanu akasiyana anogona kukonzera hyperekplexia iyi. Majini aya ndeaya:

• `ATAD1`
• `GLRA1`
• `GLRB`
• `GPHN`
• `SLC6A5`

Majini aya anoita basa rakakosha mukugadzira mamwe mapuroteni mumasero edu etsinga (neurons). Mapuroteni aya anodzora mashandiro anoita masero etsinga kune molekyuru iri mumuviri wedu inonzi glycine. Glycine iamino acid, inova chivakwa chemapuroteni. Glycine zvakare ineurotransmitter. Iyi ikemikari inotumira masaini kuburikidza netsinga dzedu.

Kazhinji, glycine inodzora kukurudzirwa kwemhasuru dzemhasuru. Zvisinei, kana paine shanduko yemajini (mutation) mune rimwe remajini ataurwa pamusoro apa, mhedzisiro yeglycine pahurongwa hwetsinga inodzikira. Zvadaro, masero etsinga anotumira mameseji kuuropi netsandanyama pasina kudzora. Ndokusaka tsandanyama dzichitanga kuita zvakawandisa, uye zvimwe zviratidzo zve hyperekplexia zvinoonekwa.

Kune nzira mbiri dzaunogona kugara nhaka chirwere ichi, Hyperekplexia:

1. Nenzira yekutonga kwemunhu oga.

2. Nenzira ye autosomal recessive.

Idzi inyaya dzakaoma dzemajini, saka chiremba wako anogona kutsanangura izvi zvakadzama.

Ndezvipi zvinetso zvechirwere ichi?

Tatotaura kuti kana vacheche vachangobva kuberekwa vaine hyperekplexia, miviri yavo inoomarara uye haigone kufamba kwenguva yakati. Munguva yekuomarara uku, vamwe vacheche vanogona kumira kufema. Ichi ndicho chikonzero chikuru che sudden infant death syndrome (SIDS). SIDS ndiyo inonyanya kukonzera kufa kusingatsananguriki muvana vari pasi pegore rimwe chete.

Kashoma, vacheche vane hyperekplexia vanogonawo kuva nechirwere chepfari (`(Epilepsy)`), kana chatinoti epileptic seizures.

Zviratidzo zve hyperekplexia zvinowanzopera pazera regore rimwe chete. Zvisinei, vana nevakuru vane chirwere ichi vanogona kuramba vachidedera nyore nyore uye kuomarara. Izvi zvinogona kuita kuti vawe kakawanda. Sezvavanokura, vanogona kusakwanisa kushivirira ruzha rukuru nenzvimbo dzine vanhu vakawanda. Vanhu vane pfari vanogona kunge vaine pfari muhupenyu hwavo hwese.

Unoona sei izvi?

Pakuongorora chirwere cheHyperekplexia, vanachiremba vanotarisa zviratidzo zvikuru zvitatu:

• Muviri wese unova wakaoma mushure mekuzvarwa .
• Mhinduro yekushamisika yakanyanyisa kune chimwe chinhu chisingatarisirwi.
• Mushure mekuvhunduka, muviri wese unotanga kuoma kwenguva pfupi.

Kuongororwa kwakajairika - kuongororwa kweropa, kuongororwa kweweti, kuongororwa kweuropi uye EEGs - zvese zvinoratidza mhedzisiro yakajairika. Zvisinei, kuongororwa kwemajini kunogona kuona shanduko shanu dzemajini dzine chekuita nechirwere ichi.

Pane mushonga weHyperekplexia here?

Ehe, inogona kurapwa! Muvana nevakuru, mushonga mukuru wehyperekplexia mushonga unonzi `(Clonazepam)`, unoderedza kuzvidya mwoyo uye unoderedza kuoma kwetsandanyama. `(Clonazepam)` mushonga unonyaradza zvishoma uri weboka re`(Benzodiazepine)`. Unobatsira kuderedza zviratidzo zvehyperekplexia, kunyanya kuoma kwetsandanyama. Vanachiremba vanowanzopa vana 0.01 kusvika 0.1 milligrams pakirogiramu yehuremu hwemuviri pazuva uye 0.8 milligrams pazuva kuvanhu vakuru.

Chiremba wako anogona kukupa mimwe mishonga yakawanda yekurapa chirwere ichi. Semuenzaniso:

• Carbamazepine (`(Carbamazepine)`)
• Phenobarbitol (`(Phenobarbital)`)
• Phenytoin (`(Phenytoin)`)
• Diazepam (`(Diazepam)`)
• Sodium valproate (`(Sodium valproate)`)

Mamwe marapirwo anogona kusanganisira kurapa nemuviri kune vane matambudziko ekufamba uye kurapa nepfungwa dzekuita zvinhu (CBT) kuderedza kuzvidya mwoyo.

Remangwana richange rakaita sei mumamiriro ezvinhu aya? (Kufungidzira)

Kazhinji, zviratidzo zve hyperekplexia muvacheche zvinodzikira pavanosvika gore rimwe chete. Aya mashoko anonyaradza zvechokwadi. Zvisinei, kuvana nevakuru, migumisiro yechirwere ichi inogona kugara kweupenyu hwese. Zvisinei, sezvambotaurwa, kune mishonga inogona kubatsira kudzora zviratidzo.

Izvi zvinogona kudzivirirwa here?

Hyperekplexia chirwere chinokonzerwa nemajini, saka hachigone kudzivirirwa. Kana uchinetseka kana kuti uine kusava nechokwadi nezvekuti mwana wako achagara nhaka chirwere ichi here, zvakanaka kutaura nenyanzvi yezvemajini. Ipapo unogona kunzwisisa zvakajeka nezveizvi.

Ndinozvitarisira sei? / Ndinotarisira mwana wangu?

Kana iwe kana mwana wako aine hyperekplexia, zvakakosha kutora mushonga wakanyorerwa nachiremba wako panguva chaiyo uye nemazvo. Chiremba wako achakurudzira nzira dzakanakisisa dzekurapa chirwere chako. Mishonga iyi inofanira kubatsira kudzora zviratidzo zvako.

Ndinofanira kuona chiremba rini?

Kana mwana wako achangoberekwa aine hyperekplexia, chiremba anowanzoiona pakuzvarwa. Dzimwe nguva inogona kuonekwa kunyangwe asati aberekwa. Kana izvi zvikaitika, chiremba wemwana wako achatanga kurapwa ipapo ipapo.

Zvisinei, kana iwe kana mwana wako mukasangana nepfari dzisingatsananguriki , zvakakosha kuona chiremba nekukasika, sezvo chirwere ichi, chinonzi hyperekplexia, chinogonawo kuva chikonzero chepfari.

Mibvunzo ipi yandinofanira kubvunza chiremba wangu?

Kana iwe kana mwana wako aine hyperekplexia, zvakanaka kubvunza chiremba wako mibvunzo iyi:

• Sei izvi zvakaitika? (Chii chakaita kuti izvi zviitike?)
• Ndeipi nzira yekurapa yaunokurudzira?
• Zvinokwanisika here kuti vana vangu vemangwana vave neHyperekplexia?

Pakupedzisira, zvinhu zvekurangarira

Zvakajairika kunzwa kusuruvara uye kushamisika paunoona kuti mwana wako achangoberekwa ane Hyperekplexia. Hapana anoda kuona mwana wake achitambura. Asi kana iwe kana mwana wako muchitambura nechirwere ichi, yeukai kuti hamusi mega. Chikwata chenyu chekurapa chiripo nguva dzose kuti chikubatsirei. Vachakupai mishonga yekubatsira kudzora zviratidzo zvechirwere ichi.

Chinhu chinonyanya kukosha ndechekuti, kana mwana wako aine Hyperekplexia,Yeukai kuti zviratidzo izvi zvingangopera pavanosvika zuva ravo rekutanga rekuzvarwa. Izvozvo zvinozorodza zvikuru, handiti? Saka, tarisana nemamiriro ezvinhu aya neushingi, uchitevera mazano echiremba.

Hyperekplexia , kukwenya kwemwana, kugwinha kwetsandanyama, zvirwere zvetsinga, zvirwere zvemajini, vacheche vachangoberekwa, SIDS, clonazepam