Zomwe Zimayambitsa Zofooka kwa Ana Amanda
Matenda a ubongo ndi opweteketsa mtima kwambiri akamakhudza ana. Izi nthawi zambiri zimachokera ku matenda a chibadwa omwe angakhudze mwanayo kubadwa. Nthawi zina kusintha kotereku kumabweretsa mavuto ndi minofu, yomwe imabweretsa kufooka.
Zitha kukhala zotheka kuzindikira mavuto amenewa ngakhale asanabadwe. Kusinthasintha kwa fetal kukhoza kuchepa kapena kupezeka ngati minofu ya mwanayo isakule bwino.
Mwanayo atabadwa, makolo angazindikire kuti sangakwanitse kudyetsa. Nthawi zina zizindikiro zimakhala zovuta kwambiri, monga mwana wakhanda angakhale wofooka kwambiri kuti asapume ndipo akhoza kukhala ndi vuto lopweteka (mwanayo angamawoneke ngati "floppy"). Kawirikawiri, mwanayo amatha kusuntha maso ake mwachizolowezi.
Matenda Omwe Akuluakulu Ambiri
Matenda oyambirira a pakati amachitidwa chifukwa minofu imawoneka pansi pa microscope, pali madera omwe sakhala ndi maselo omwe amagwiritsa ntchito monga mitochondria kapena sarcoplasmic reticulum.
Matendawa amachokera ku kusintha kwa jeni la ryanodine receptor (RYR1). Ngakhale kuti matendawa amachokera mumtundu wa autosomal, umene nthawi zambiri umatanthauza kuti zizindikiro zidzakhalansopo mwa kholo, jini silimveka bwino ngakhale ngati wina ali ndi mawonekedwe a kusintha, nthawi zina zizindikiro zake zimakhala zochepa.
Matenda apakatikati amatha kuwonanso ana m'moyo, zomwe zimachititsa kuchepetsa kuyendetsa galimoto.
Mwachitsanzo, mwanayo sangayende mpaka atakwanitsa zaka zitatu kapena 4. Nthawi zina kuyambika kungabwere ngakhale patapita nthawi, komabe pa nthawiyi, zizindikiro zimakhala zovuta. Nthawi zina amangooneka ngati atalandira mankhwala ochepetsa kupweteka, omwe amachititsa kuti anthu omwe ali ndi matendawa ayambe kuvutika kwambiri.
Matenda a Multicore
Matenda a multicore amachititsanso kuchepa kwa minofu ndipo kawirikawiri amakhala chizindikiro pamene wina ali wakhanda kapena akadakali mwana. Zochitika zamagalimoto monga kuyenda zingachedwe, ndipo pamene mwanayo akuyenda angawoneke ngati akuwombera ndipo akhoza kugwa kawirikawiri. Nthawi zina zofooka zingalepheretse mwana kupuma bwino, makamaka usiku. Matendawa amatenga dzina lawo kukhala ndi madera ang'onoang'ono a kuchepa kwa mitochondria mkati mwa minofu. Mosiyana ndi matenda akuluakulu, zigawozi sizingaonjezere kutalika kwa fiber.
Nemaline Myopathy
Mthepine yamaline kawirikawiri imachokera mu mafashoni autosomal, ngakhale kuti pali njira yowonongeka ya autosomal yomwe imayambitsa zizindikiro zomwe zimabwera pakadali. Pali majini angapo omwe aphatikizidwa, kuphatikizapo nebulin gene (NEM2), alpha-actingene (ACTA1), kapena jini la tropomyosin (TPM2).
Mthendayi yamatsenga ikhoza kubwera m'njira zosiyanasiyana. Fomu yoopsa kwambiri imakhala yovuta. Kubereka kwa mwana nthawi zambiri kumakhala kovuta, ndipo mwanayo amawoneka ngati wabuluu atabadwa chifukwa chovutika kupuma. Chifukwa cha kufooka, mwanayo samadya bwino kwambiri, ndipo sangasunthire nthawi zambiri. Chifukwa chakuti mwanayo akhoza kukhala wofooka kwambiri kuti asapunde ndi kuteteza mapapu ake, matenda opatsirana ammapapati amachititsa kuti munthu asamwalire.
Mtundu wapakati wa imaline myopathy umapangitsa kufooka kwa minofu ya ntchafu m'matumbo. Zochitika zamagalimoto zimachedwa, ndipo ana ambiri omwe ali ndi matendawa adzakhala ndi olumala-ali ndi zaka 10. Mosiyana ndi ma myopathie ena, minofu ya nkhope ingakhudzidwe kwambiri.
Palinso mitundu yovuta ya imaline myopathy yomwe imayambitsa zofooka zochepa kuyambira ali wakhanda, ubwana kapena ngakhale wamkulu. Mu ofatsa kwambiri a mitundu iyi, kutukula mothamanga kungakhale koyenera, ngakhale kufooka kwina kumabwera pakapita m'moyo.
Kupezeka kwa matenda a nemaline nthawi zambiri kumapangidwa ndi mitsempha yambiri . Mitambo yaing'ono yotchedwa nemaline matupi imawoneka minofu.
Myotubular (Centronuclear) Myopathy
Maganizo a myotubular amachokera m'njira zosiyanasiyana. Chofala kwambiri ndi chitsanzo chojambulidwa kwambiri cha X, chomwe chimatanthauza kuti kawirikawiri amaoneka ngati anyamata omwe mayi awo ankanyamula jini koma analibe zizindikiro. Mtundu woterewu umayambitsa mavuto. Kusinthasintha kwa fetal kuchepetsedwa ndipo kubereka kuli kovuta. Mutu ukhoza kukulitsidwa. Atabadwa, kamvekedwe ka mwana kameneka ndi kochepa ndipo kotero amawoneka floppy. Angakhale ofooka kwambiri kuti asatsegule maso awo.Akhoza kuthandizidwa kuti athandizidwe ndi mpweya wabwino kuti apulumuke. Apanso, matendawa amasiyana kwambiri.
> Chitsime:
> Nima Mowzoon, Kusokonezeka kwa Mitsempha, Kukambirana kwa Bungwe la Neurology: Buku Lophunziridwa Lofotokozedwa, 2007.