Genetic Causes of Weakness In Inborns
Zvirwere zvehupfungwa zvinonyanya kushungurudza mwoyo pazvinokonzera vana. Izvi zvinowanzokonzerwa nehutano hwemagetsi hunogona kukonzera mwana kubva pakuberekwa. Dzimwe nguva migumisiro yakadaro inotungamirira kumatambudziko nemisungo, iyo inotungamirira kuutera.
Zvinogona kuvepo kugona matambudziko akadaro kunyange asati aberekwa. Kutora kufanana kunogona kuderera kana kusavapo kana musikana wemwana asiri kukura kazhinji.
Mushure mokunge mwana aberekwa, vabereki vanogona kuona kushaya simba kwekudya. Dzimwe nguva zviratidzo zvinotoshamisa zvikuru, sezvo mwana achangoberekwa angave asina simba zvokuti haafaniri kufema uye angave ane urombo hutema (mwana angaita se "floppy"). Kazhinji, mwana wacho anokwanisa kutamisa maziso ake kazhinji.
Central Core Disease
Central Central disease chirwere chinodanwa nokuti musumbu inotaridzirwa pasi pe microscope, pane zvirevo zvakanzwisiswa munzvimbo dzisina kukwana masero esero semitochondria kana sarcoplasmic reticulum.
Chirwere chinokonzerwa nekuchinja kwemuviri weRyanodine receptor (RYR1). Kunyange zvazvo chirwere chacho chikagara nhaka mufashoni yakakura, iyo inowanzoreva kuti zviratidzo zvingave zviripo mumubereki, jeni harisi iro rinonyatsoratidzwa-kunyange kana mumwe munhu ane chimiro chinoshandiswa chekuchinja, dzimwe nguva zviratidzo zvinyoro.
Central Central disease chirwere chinogona kukonzera vana gare gare muupenyu, zvichiita kuti kunonoka motokari kukurudzirwa.
Somuenzaniso, mwana wacho haafaniri kufamba kusvikira ava nemakore matatu kana mana. Dzimwe nguva kutanga kunogona kusvika kunyange gare gare, pahukuru, kunyange zvakadaro, munyaya iyi, zviratidzo zvinowanzotyisa. Dzimwe nguva vanongoratidzika mushure mekugamuchira mishonga yekurapa, iyo inokonzera kugadzikana kwakanyanya kune vanhu vane chirwere ichi.
Multicore Disease
Zvirwere zveMalticore zvinokonzera kuderera kweutsi hwekutaura uye zvinowanzova zviratidzo kana mumwe munhu achiri mucheche kana achiri muduku. Motokari inokosha sezvakafamba kufamba kunogona kunonoka, uye kana mwana achifamba vanogona kuonekwa sevanokunda uye vanogona kuwira kazhinji. Dzimwe nguva utera hunogona kukanganisa kukwanisa kwemwana kufema kazhinji, kunyanya usiku. Dambudziko racho rinowana zita rayo kubva mune zviduku zvishoma zvakaderera mitochondria mukati meumushu. Kusiyana nehutano hwepakati, zvirwere izvi hazvirevi urefu hwose hwe fiber.
Nemaline Myopathy
Nemaline myopathy inowanzopiwa nhaka mufosimasi inotenderera, kunyange zvazvo kune chimiro chezvipembenene chinokonzera zviratidzo zvinouya pahucheche. Majini mazhinji akatorwa, kusanganisira nebulin gene (NEM2), alpha-actingene (ACTA1), kana kuti tropomyosin gene (TPM2).
Nemaline myopathy inogona kuuya nenzira dzakasiyana. Chimiro chakakomba chiri muononates. Kutaura kwomwana kunowanzooma, uye mwana achaonekwa sebhuruu paanenge aberekwa nekuda kwekuoma kufema. Nokuda kweutera, mwana wacho kazhinji haafaniri kudya zvakanyanya, uye haazofambi zvishoma nezvishoma. Nemhaka yokuti mwana wacho angave asina simba zvokuti haafaniri kukwezva uye kudzivirira mapapu ayo, zvirwere zvakakomba zvemapapu zvinotungamirira kumakore ekutanga kufa.
Chimwe chepakati chemamaline myopathy chinokonzera kushaya simba kwehudyu mumakumbo mucheche. Motokari dzinoshandiswa dzinonoka, uye vana vakawanda vane chirwere ichi vachave vane njuviri yevasimba-vaine makore gumi. Kusiyana nemamwe myopathies, maziso emasikati anogona kunge akaoma zvikuru.
Iko kunewo maitiro akaoma emetaline myopathy anokonzera kusava nesimba kwakanyanya mucheche, muhucheche kana kunyange munhu mukuru. Mune hunyoro hwemhando iyi, motokari yekuvandudza inogona kuva yakasununguka, asi vamwe utera hunouya pane gare gare muupenyu.
Kuongororwa kweMemaline Myopathy kunowanzotanga kuburikidza nemisumbu yehuputi . Dombo shomanana dzinonzi nemaline miviri inowanikwa mumashuga.
Myotubular (Centronuclear) Myopathy
Myotubular myopathy inotora nhaka nenzira dzakasiyana-siyana. Chinyanya kukosha ndeyomu X-yakabatanidzwa nenzira yakawanda, zvichireva kuti inowanzoonekwa kakawanda kune vakomana vane amai vakatakura geni asi vasina zviratidzo. Mhando iyi ye myotubular myopathy inotanga kukonzera zvinetso mutero. Kutora kufanana kunoderedzwa uye kuberekwa kwakaoma. Musoro unogona kuwedzerwa. Mushure mokuberekwa, musikana wemutauro unotaurira pasi uye saka vanoita floppy. Vanogona kunge vasina simba rakazara kuti vasvinudze maziso avo.Vangada kubatsirwa ne mechanical ventilation kuitira kuti vararame. Zvakare, kune kusiyana kwakawandisa kwechirwere ichi zvakare.
> Kwakabva:
> Nima Mowzoon, Kushungurudzika kweMuscle, Neurology Board Review: An Illustrated Study Guide, 2007.