Iqela leengxaki ezithintekayo ngokuthe gqithisa imizwa yakho
Isifo se-Charcot-Marie-Tooth (i-CMT) sichaza iqela leengxaki ezibangela iziphoso kwiimbilini zakho. Ezi ziphoso zentlungu zingakwazi ukuqhubeka zibangele ubuthathaka bomzimba, i- atrophy , kunye nokulahleka kwintlungu.
Iintlobo zeCharcot-Marie-Tooth Disease
Kukho iintlobo ezininzi zeCharcot-Marie-Tooth (CMT). Kwiintlobo zezifo ze-CMT Type 1, lesi sifo sichaphazela i- myelin sheath, isithintelo esisisigxina seentsholongwane.
Kwiintsholongwane ze-CMT zohlobo lwe-2, izibilini zichaphazelekayo. Uhlobo lwe-CMT (izifo ze-Dejerine-Sottas), uhlobo lwe-CMT no-4, kunye ne-CMT X, njengohlobo lwe-1, oluchaphazela i-myelin sheath.
I-CMT ifunyanwa apha emhlabeni jikelele, ichaphazela abantu bazo zonke iintlanga. Abantu abangaba ngu-150,000 e-United States bane-CMT kunye no-1 kwi-2,500 emhlabeni jikelele bahlala kunye nale meko. I-CMT yaqale ichazwa ngabaphandi uJean-Marie Charcot, Pierre Marie, no-Howard Henry Tooth ngo-1886, uCharcot-Marie-Tooth uthathwa njengengqabile. I-CMT ngezinye izihlandlo ibizwa ngokuba yi-atrophy ye-peroneal ye-peroneal okanye i-motor and heritage sensory neuropathies.
Uninzi lweziganeko zikaCharcot-Marie-Tooth zidluliselwa kwi-genetically, njenge-defect chromosomal. Phantse iipesenti ezili-15 zeemeko zenzeka ngaphandle kwembali yentsapho yalo. Esi sifo sivame ukubonakala phakathi kweminyaka eyi-15 no-20.
Ziziphi Iimpawu?
Iimpawu zokuqala ze-CMT zivame ukuchazwa ngeengxaki zenyawo, oku kungabandakanywa ama- ankle ahlanjulweyo, ukutshintshisa okanye ukubonakala okuluhlu.
Njengoko eso sifo siyaqhubeka, unyawo lweenyawo lunokuphakama kwaye iinzwane ziphephe. Kungaba nzima kubantu abane-CMT ukuphakamisa iinyawo zabo. Abantu abane-CMT kufuneka bahambe ngokucophelela, beguqa ngamadolo ukuze baphakamise unyawo lwabo xa behamba.
Ubuthakathaka besandla buya kuqala ngeengxaki ngokubhala okanye ukusebenzisa i-zippers okanye amaqhosha.
Ubunzima kunye nokuxakisha imisipha kunokukhula.
Ngaphandle kwamalungu entsapho enye, ubunzima be-CMT buyahluka. Ngokomzekelo, umntu omnye akanakukubona nayiphi na impawu ngelixa elinye linokukhubazeka kweenyawo kunye nobunzima bokuhamba. Abantu abane-CMT bangaba mfutshane kwisigxina kwaye banamehlo asondeleyo.
I-CMT ayikho, kwiimeko ezininzi, ichaphazele ezinye iindawo zomzimba njengengqondo okanye intliziyo, amandla okucinga, kunye nokuphila kwexesha eliqhelekileyo. Le meko ayiyingozi, kodwa akukho nonyango.
Phantse ama-15 ekhulwini labantu abane-CMT banesimo sesifo esixhumene ne-X chromosome (ebizwa ngokuba yi-CMTX). Ucwaningo luye lwabonisa ukuba abantu abane-CMTX banakho iimpawu zeentsholongwane eziphakathi kwexesha kunye neempawu eziqhelekileyo. Iimeko ezinzima ze-CMT zingabangela ubunzima bokuphefumla.
I-CMT ichongwa njani?
Ukuba ugqirha ugxeka i-CMT ngenxa yobuthakathaka isandla, umlenze, unyawo, iimvavanyo ezizodwa zemisipha (i- nerve conduction velocity , okanye i-NCV) kunye nemisipha (i- electromyogram , okanye i-EMG) inokwenziwa ukuqinisekisa ukuxilongwa. Iimvavanyo ezizodwa zemfuza ziyakwazi ukubona ezinye iintlobo ze-CMT.
I-CMT ithathwa njani?
Ekubeni kungekho nonyango okanye indlela yokunciphisa inkqubo yesifo, unyango lujolise ekunciphiseni iimpawu.
Ubhontsho bomlenze kunye nezihlangu ezikhethekileyo kunokunceda ekuhambeni, njengokuba unyango lwamaziko . Ngamanye amaxesha ukuhlinzwa kweenyawo (i- osteotomy okanye i- arthrodesis ) kunokufuneka ukuba ulungise iinyawo ezipholileyo. Amachiza anokunikelwa ekunciphiseni ubuhlungu beentlungu kunye nokuqhawula.
Imithombo:
Umbutho we-Muscular Dystrophy. Amaqiniso Ngomdla weCharcot-Marie-Tooth Disease (CMT).
Kedlaya, D. (2002). Isifo seCharcot-Marie-Tooth. eMedicine.
Isiko seSizwe seNtsholongwane kaGawulayo kunye neSrost. I-Charcot-Marie-Tooth Disorder Information Page.
Zwipp, H., Rammelt, S., Dahlen, C., & Reichmann, H. (1999). Idilesi yeCharcot. I-Orthopade, 28 (6), 550-558.