Izimbangela Zokuphefumula Zobuthakathaka Ezisana
Izifo ze-neurological zihlaba umxhwele kakhulu lapho zithinta izingane. Lokhu ngokuvamile kubangelwa isifo sofuzo esingathinta ingane kusukela ekuzalweni. Ngezinye izikhathi lezi zinguquko ziholela ezinkingeni ezinemizimba, okuholela ekubuthakathaka.
Kungenzeka ukuthola izinkinga ezinjalo ngisho nangaphambi kokuzalwa. Ukunyakaza kwe-Fetal kungancipha noma kungabikho uma imisipha yengane ingakhulumi ngendlela evamile.
Ngemuva kokuzalwa kwengane, abazali bangabona ikhono lokunciphisa elinciphile. Ngezinye izikhathi izibonakaliso ziyamangalisa nakakhulu, njengoba umntwana osanda kuzalwa angase abe buthakathaka kakhulu ukuphefumula futhi angase abe nomsindo omncane we-muscle (ingane ingase ibonakale ibe "i-floppy"). Ngokuvamile, ingane ikwazi ukuhambisa amehlo akhe ngokuvamile.
Izifo Eziyinhloko Ephakathi
Isifo esiyisisekelo esiyinhloko sabizwa ngoba uma imisipha ibhekwa ngaphansi kwe-microscope, kunezifunda ezichazwe ngokucacile ngenxa yokuthi azikho izingxenye zamaseli ezijwayelekile ezifana ne-mitochondria noma i-sticcopymic reticulum.
Lesi sifo sibangelwa ukuguqulwa kwesakhi sofuzo se-ryanodine (RYR1). Nakuba lesi sifo sizuzwa njengefa elivamile, okuvame ukusho ukuthi izimpawu zizobe zikhona kumzali, isakhi asivamile ukubonakaliswa ngokugcwele-ngisho noma othile enesimo esisebenzayo sokuguqulwa kwamanye amazwe, ngezinye izikhathi izimpawu zabo zithobekile.
Isifo esiyisisekelo esiyinhloko singathinta izingane esikhathini esizayo empilweni, okuholela ekwenzeni ukuthuthukiswa kwentuthuko yezimoto.
Isibonelo, umntwana angeke ahambe aze afike eminyakeni engu-3 noma 4. Ngezinye izikhathi ukuqala kungase kwenzeke ngisho nangemva kwesikhathi, nakuba kunjalo, kulokhu, izimpawu zivame kakhulu. Ngezinye izikhathi zivele zibonakala ngemva kokuthola imithi yokubulala umzimba, okubangela ukusabela okujulile kubantu abanalesi sifo.
Izifo ze-Multicore
Izifo ze-Multicore nazo zibangela ukwehla kwezwi le-muscle futhi ngokuvamile ziba nezimpawu lapho umuntu esemncane noma esemncane. Izimpawu zokuhamba njengezimoto ezifana nokuhamba kungase kuphuze, futhi lapho ingane ihamba zingase zibonakale zihamba futhi zingase ziwe njalo. Ngezinye izikhathi ubuthakathaka bungalimaza ikhono lomntwana lokuphefumula ngokujwayelekile, ikakhulukazi ebusuku. Lesi sifo sithola igama layo ekubeni nezindawo ezincane zokunciphisa i- mitochondria ngaphakathi kwezingxube ze-muscle. Ngokungafani nesifo esiyisisekelo esiyinhloko, lezi zifunda azifaki lonke ubude befiber.
I-Nemaline Myopathy
I-Nemaline ukusola ngokuvamile izuzwe ngefosimasi ebonakalayo, nakuba kunamafomu okuzithiba okuzenzekelayo okwenza ukuthi izimpawu zivele ngesikhathi sokusana. Izakhi zofuzo eziningana zifakiwe, kufaka phakathi i-nebulin gene (NEM2), i-alpha-actingene (ACTA1), noma isakhi se-tropomyosin (TPM2).
I-Nemaline yokwehluleka kungavela ngezindlela ezahlukene. Ifomu elibi kunazo zonke lingama-neonates. Ukulethwa kwengane ngokuvamile kunzima, futhi ingane izobonakala ibhakabhaka ngesikhathi izalwa ngenxa yokuphefumula kanzima. Ngenxa yobuthakathaka, ingane ngeke isondle kakhulu, futhi ngeke ihambe ngokuzenzekelayo kaningi. Ngenxa yokuthi ingane ingabuthakathaka kakhulu ukukhwehlela futhi ivikele amaphaphu ayo, ukutheleleka kwamapayipi amancane kuholele ekufeni kokuqala.
Uhlobo oluphakathi lwe-nemaline myopathy luholela ebuthakathakeni bemisipha yamathanga ezinganeni. Iziteleka zemoto zilibalekile, futhi izingane eziningi ezinalesi sifo zizoba nezihlalo zabakhubazekile-ziboshwe eneminyaka engu-10. Ngokungafani namanye ama-myopathies, imisipha ye-facial ingathinteka kakhulu.
Kukhona izinhlobo ezinamandla ze-nemaline myopathy ezenza ubuthakathaka obuncane kakhulu ebuntwaneni, ebuntwaneni noma ngisho nangabantu abadala. Ngomoya omnene kulezi zindlela, ukuthuthukiswa kwezimoto kungase kube okuvamile, nakuba ubuthakathaka obuthakathaka buya kamuva ekuphileni.
Ukuxilongwa kwe-nemaline myopathy ngokuvamile kuqale kwenziwa nge- muscle biopsy . Izinduku ezincane ezibizwa ngokuthi izidumbu ze-nemaline zivela emafayilini.
I-Myotubular (Centronuclear) Myopathy
Ukuzizwa ngeso lengqondo kuzuzwa ngezindlela eziningi ezahlukene. Okuvame kakhulu yiphethini ephindaphindiwe e-X, okusho ukuthi ibonakala kakhulu kubafana abanikazi babo abathwala isakhi kodwa bengenayo izimpawu. Loluhlobo lwe-myopathy lwama-myotubulas luqala ukudala izinkinga ku-utero. Ukunyakaza kwe-Fetal kuncishisiwe futhi ukulethwa kunzima. Inhloko ingase ikhuliswe. Ngemuva kokubeletha, ithoni ye-muscle yengane iphansi futhi ngakho-ke ibonakala i-floppy. Bangase babebuthakathaka kakhulu ukuba bangavula amehlo abo ngokugcwele.Bangase badinge ukusizwa nge- ventilation mechanical ukuze basinde. Futhi, kukhona ukuhluka okuncane kakhulu kwalesi sifo.
> Umthombo:
> Nima Mowzoon, Ukuphazamiseka Kwemisipha, Ukubuyekezwa KweBhodi Ye-Neurology: Umhlahlandlela Wokufundwa Ngemifanekiso, 2007.