Iimbangela ze-Genetic Causes of Inakness in the Newborns
Izifo ze-neurological ziyakhathazeka kakhulu xa zichaphazela abantwana. Oku kudla ngokubakho kwimiphumo yezofuzo ezinokuchaphazela umntwana ekuzalweni. Ngamanye amaxesha utshintsho olunjalo lukhokelela kwiingxaki ezinamahlunu, okukhokelela ekubuthathaka.
Kungenzeka ukuba ufumane iingxaki ezinjalo ngaphambi kokuba uzalwe. Ukunyakaza kwe-Fetal kunokunciphisa okanye kungabikho ukuba imisipha yomntwana ingahlakuli ngokuqhelekileyo.
Emva kokuba umntwana ezalwe, abazali bangaqaphela ukunciphisa amandla okutya. Ngamanye amaxesha imiqondiso imangalisa ngakumbi, njengokuba usana olusandul 'ukuzalwa luba buthathaka kakhulu ukuba luphefumule kwaye lunokuthi lube nefuthe le-muscle elibi (umntwana usenokubonakala "yi-floppy"). Ngokuqhelekileyo, umntwana uyakwazi ukuhambisa amehlo akhe ngokuqhelekileyo.
Izifo eziPhakathi
Isifo esiyisiseko esisisiseko sichazwa ngokuba imisipha ibonwa phantsi kwe-microscope, kukho imimandla echazwe ngokucacileyo kwinto engenamacandelo eselula afana ne-mitochondria okanye i-sarcoplasmic reticulum.
Isifo siphumela kwisiguqu kwi-ryanodine gene receptor (RYR1). Nangona eso sifo sizuze kwi-autosomal fancy fashion, okuqhelekileyo kuthetha ukuba iimpawu ziya kuba khona kumzali, i-gene ayiqhelekanga ngokuqhelekileyo-nangona umntu enesimo esisebenzayo sokuguquka, ngamanye amaxesha iimpawu zabo zincinci.
Isifo esisisiseko esisisiseko sinokuchaphazela abantwana ekuhambeni kwexesha, kubangele ukuphuculwa kweemoto zophuhliso.
Ngokomzekelo, umntwana akanako ukuhamba ade afikelele kwiminyaka emi-3 okanye 4. Ngezinye izihlandlo ukuqala kungase kwenzeke nangona kamva, nangona kunjalo, ngoxa umntu ekhulile, impawu zivame kakhulu. Ngamanye amaxesha bavele bebonakala emva kokufumana imithi ye-anesthetic, ebangela ukuba basabele ngokuthe ngqo kubantu abanolu daba.
Izifo zeMantticore
Isifo se-Multicore senza ukuba i-tone ye-muscle iyancipha kwaye ngokuqhelekileyo iba ngumqondiso xa umntu esemsaneni okanye esemncane. Iimoto ezinjengeemoto ezinjengezokuhamba zingahle zibaleke, kwaye xa umntwana ehambayo angabonakala ehamba kwaye ahlale ewa rhoqo. Ngamanye amaxesha ubuthathaka bungabangela ukuba umntwana akwazi ukuphefumula ngokuqhelekileyo, ngobusuku. Ingxaki ifumana igama layo ekubeni neendawo ezincinci zokunciphisa i- mitochondria ngaphakathi kwimizi ye-muscle. Ngokungafani nesifo esiyisiseko esisisiseko, le mimandla ayinakwandisa ubude befiber.
Nemaline Myopathy
I-Nemaline myopathy idla ilifa kwi-autosomal fowder, nangona kukho i-autosomal ifom ye-autosomal eyenza ukuba iimpawu zifike ngexesha lokusana. Iigulo ezininzi ziye zabandakanywa, kubandakanya i-nebulin gene (NEM2), i-alpha-actingene (ACTA1), okanye i-ganomyosin gene (TPM2).
I-Nemaline myopathy ingafika ngeendlela ezahlukeneyo. Ifom ephezulu kunabo bonke. Ukuhanjiswa komntwana kudla kunzima, kwaye umntwana uya kubonakala ebhakabhaka ekuzalweni ngenxa yobunzima bokuphefumla. Ngenxa yobuthathaka, umntwana akayi kudla kakuhle, kwaye akayi kuhamba ngokukhawuleza. Ngenxa yokuba umntwana unobuthakathaka ukukhwehlela nokukhusela imiphunga yakhe, izifo ezinzulu zemiphunga zikhokelela ekufeni kokufa kwangaphambili.
Ifom ye-neemaline myopathy iholele ekutheni ubuthathaka bezinkukhu ezintsaneni. Iimoto ezinkulu zilibazisekile, kwaye abantwana abaninzi abanalo le disorder baya kuba sevili-zibophelelwe yiminyaka eyi-10. Ngokungafani nezinye i-myopathies, izihlunu zobuso zingathinteka kakhulu.
Kukho neendlela ezinobungqina be-neemaline myopathy ezibangelwa ubuthathaka obuncinane kwiintsana, ebuntwaneni okanye nangabantu abadala. Kwimeko emnene kakhulu kwezi fomu, ukuphuhlisa imoto kunokuqhelekileyo, nangona ubuthathaka buza kubakho kamva ebomini.
Ukuxilongwa kwe-nemaline myopathy ngokuqhelekileyo okokuqala kuyenziwe nge- biopsy muscle . Amathonga amancinci abizwa ngokuba ngama-bodyal ne-bodyal avela kwiimfucu ze-muscle.
I-Myotubular (Centronuclear) iMyopathy
I-myotubular myopathy izuzwe ngeendlela ezahlukeneyo. Eyona nto iqhelekileyo yindlela yokuxhomekeka kwe-X, ebonisa ukuba ibonakala ngokuqhelekileyo kubafana abanomama abaphethe i-gene kodwa babengenayo impawu. Olu hlobo lwe-myotubula myopathy luqala ukudala iingxaki kwi-utero. Ukunyuka kwe-Fetal kuncitshiswa kwaye ukuhanjiswa kunzima. Intloko inokwandiswa. Emva kokuzalwa, ithoni yengane yomntwana iphantsi kwaye ivela kwi-floppy. Basenokuba buthathaka kakhulu ukuba bavule amehlo abo ngokupheleleyo. Basenokufuna ukuncediswa nge- mechanical ventilation ukuze baphile. Kwakhona, kukho ukuhluka okubi kakhulu kwesi sifo.
> Umthombo:
> I-Nima Mowzoon, ukuphazamiseka kweMisipha, UkuHlola kweBhodi ye-Neurology: Isikhokelo sokuFundwa kweMifanekiso, 2007.