Kwayoyin Halitta Kwayoyin Raunana a jarirai
Magungunan rashin lafiyar jiki sune mawuyacin zuciya lokacin da suke tasiri yara. Wannan yakan haifar da mummunan cuta wanda zai iya tasiri yaro tun daga haihuwa. Wani lokaci maye gurbin zai haifar da matsaloli tare da tsokoki, wanda zai haifar da rauni.
Yana iya yiwuwa a gano irin waɗannan matsaloli tun kafin haihuwa. Hakanan za'a iya rage ko kuma bazuwa a cikin ƙwayar ƙwayar ƙwayar ƙwayar yaron.
Bayan an haife yaron, iyaye suna iya lura da rashin ƙarfin iya ciyarwa. Wasu lokuta alamun sun kasance mafi ban mamaki, yayin da jaririn ya yi rauni sosai don numfashi kuma yana iya zama mummunan sautin (jaririn zai iya zama "fure"). Gaba ɗaya, yaron yana iya motsa idanunsa kullum.
Core Core
Ciwon magungunan tsakiya shine ake kira saboda lokacin da aka kalli tsokoki a ƙarƙashin kwayar maƙalli, akwai yankunan da aka gane a fili a cikin wannan ɓangaren suturar jiki kamar su mitochondria ko sarcoplasmic reticulum.
Sakamakon cutar yana haifar da maye gurbin a cikin ryanodine receptor gene (RYR1). Kodayake cutar ta gaji ne a cikin wani tsari na musamman, wanda ma'anar yana nufin cewa bayyanar cututtuka za ta kasance a cikin iyayensu, ba a bayyana cikakken jinsi ba-ko da idan wani yana da nau'i na maye gurbin, wani lokacin ma alamomin su ne m.
Ciwon magungunan tsakiya na iya rinjayar yara daga baya a rayuwarsu, wanda zai haifar da jinkirta cigaban motar.
Alal misali, yaron baiyi tafiya ba har sai sun kasance shekaru 3 ko 4. Wani lokaci lokuta na farko zai iya faruwa har ma daga baya, a cikin girma, duk da haka, a wannan yanayin, alamun bayyanar sun fi ƙarfin. Wasu lokuta suna bayyana ne kawai bayan sun karbi maganin rigakafi, wanda ke haifar da mummunan hali ga mutanen da wannan cuta ta ke.
Cututtukan Multiicore
Magungunan multicore yana haifar da ƙananan ƙwayar tsoka kuma yawanci yakan zama alama a yayin da wani yana cikin jariri ko yarinya. Matakan motoci kamar tafiya zai iya jinkirta, kuma lokacin da yaron yayi tafiya zasu iya zama alamu kuma zai iya fada sau da yawa. Wani lokaci rauni zai iya hana ƙin yaron ya numfasawa kullum, musamman ma da dare. Rashin lafiyar yana samun sunansa daga samun kananan yankuna na rage mitochondria a cikin ƙwayoyin tsoka. Ba kamar cututtukan tsakiya na tsakiya ba, waɗannan yankuna ba su kara tsawon tsawon fiber ba.
Nemaline Myopathy
Maimakon maganin myopathy yana da yawa a duk lokacin da yake da kyan gani, kodayake akwai matsala wanda ya haifar da bayyanar cututtuka a yayin yarinya. Yawancin jinsin da aka kirkiro, ciki har da kwayar nebulin (NEM2), alpha-actene (ACTA1), ko nau'in halittu na Tropicana (TPM2).
Namiya myopathy zai iya faruwa a hanyoyi daban-daban. Mafi mahimmanci siffar yana a cikin neonates. Bayarwa na yaro yana da wahala sosai, kuma yaron zai bayyana blue a lokacin haihuwa saboda wahalar numfashi. Saboda rashin rauni, yaro ba zai ciyar da kyau ba, kuma ba zai motsa ta hanzari ba sau da yawa. Domin yaro zai iya zama rauni sosai ga tari kuma ya kare kodarsa, ƙwayar ƙwayar ƙwayar cuta ta haifar da mummunar mace-mace.
Tsarin tsaka-tsakin na mummunan kwayar cutar nemaline yana haifar da rauni ga tsoka a cikin jarirai. Matakan motoci suna jinkirta, kuma yara da yawa da wannan cuta za su kasance mai ɗaukar igiya a shekara ta 10. Ba kamar sauran maganin ba, kamar yadda tsofaffin fuska zai iya shawo kan su.
Har ila yau, akwai magungunan ƙwayar cutar nemaline da ke haifar da rauni mai tsanani a jariri, yaro ko ma tsofaffi. A cikin mafi sauƙi daga waɗannan nau'o'in, cigaba na motoci na iya zama al'ada, ko da yake wasu raunuka ya zo a baya a rayuwa.
Sakamakon ganewar asali na nemaline myopathy yakan kasance da farko daga tsoka mai tsoka . Ƙananan igiyoyi da ake kira jikinsu nemaline suna cikin ƙwayoyin tsoka.
Myotubular (Centronuclear) Myopathy
Myopubular myopuda ne gaji a hanyoyi da yawa. Abinda ya fi kowa shi ne abin kwaikwayo na X-linked, yana nufin cewa ya fi yawa a cikin yara wanda mahaifiyarsa ta dauki kwayar cutar amma ba ta da alamun bayyanar. Irin wannan myopubular myopubular yakan fara haifar da matsala a utero. An rage ƙungiyoyi na fetal kuma ba'a da wahala. Za a iya ɗaukar kai. Bayan haihuwar, ƙwayar tsohuwar ƙwayar yaron yana da ƙananan don haka suna bayyana furanni. Zai yiwu su yi rauni sosai don su bude idanuwansu duka. Suna iya buƙatar a taimaka musu wajen samun iska don samun tsira. Bugu da ƙari, akwai ƙananan bambancin wannan cututtukan.
> Source:
> Nima Mowzoon, Raunin Muscle, Tsarin Maimaita Ma'anar Neurology: Ɗaukar Nazari na Karin Bayani, 2007.