Iqembu Lezinkinga Eziphuthuma Ngokuthinta Amazinyo Akho
Isifo se-Charcot-Marie-Tooth (CMT) sibhekisela eqenjini lezinkinga ezibangela ukukhubazeka emithambo yezingalo zakho nemilenze. Lezi zinsipho zingakwazi ukudala ubuthakathaka obuthakathaka, i- atrophy , nokulahleka okuzwakalayo.
Izinhlobo ze-Charcot-Marie-Tooth Disease
Kunezinhlobo eziningana zezifo ze-Charcot-Marie-Tooth (CMT). Ezingxenyeni ze-CMT Type 1, lesi sifo sithinta i- myelin sheath, isembozo sokuzivikela sezinzwa.
Ngenkinga ye-CMT yohlobo lwe-2, izinzwa ngokwazo ziyathinteka. Uhlobo lwe-CMT 3 (isifo se-Dejerine-Sottas), i-CMT Uhlobo lwesi-4, ne-CMT X, njengohlobo lwe-1, luthinta umgogodla we-myelin.
I-CMT itholakala emhlabeni wonke, ithinta abantu bazo zonke izinhlanga. Abantu abangaba ngu-150,000 e-United States bane-CMT futhi 1 ku-2 500 emhlabeni wonke bahlala nesimo. I-CMT yachazwa okokuqala ngabacwaningi uJean-Marie Charcot, Pierre Marie, noWoward Henry Tooth ngo-1886, uCharcot-Marie-Tooth kubhekwa njengengavamile. I-CMT iye ngezinye izikhathi ibizwa ngokuthi i-peroneal muscular atrophy noma i-motor inherited neuropathies.
Amacala amaningi kaCharcot-Marie-Tooth adluliselwa kwizakhi zofuzo, njengephutha le-chromosomal. Cishe amaphesenti angu-15 amacala akhona ngaphandle komlando womndeni wawo. Isifo ngokuvamile siyabonakala phakathi kweminyaka engu-15 no-20.
Ziyini Izimpawu?
Izimpawu zokuqala ze-CMT zivame ukukhonjiswa ngezinkinga zenyawo, lokhu kungabandakanya ama- ankles ahlanjululwe, ukugoqa noma ukubonakala okuncane.
Njengoba lesi sifo sithuthuka, ama- arches ezinyawo angase abe phezulu futhi izinzwani ziphephe. Kungaba nzima kubantu abane-CMT ukuphakamisa izinyawo zabo. Abantu abane-CMT kumele bahambe ngokucophelela, beguqa ngamadolo ukuze baphakamise unyawo lwabo ngenkathi behamba.
Ukubuthakathaka kwesandla kungaqala ngenkathazo ngokubhala noma ukusebenzisa izipper noma izinkinobho.
Ukuhlukunyezwa nobuhlungu be-muscle kungakhula.
Ngisho phakathi kwamalungu omkhaya ofanayo, ubukhulu be-CMT bungase buhluke. Isibonelo, umuntu oyedwa angeke abone noma yimaphi izimpawu ngenkathi omunye enamahloni ezinyawo futhi enzima ukuhamba. Abantu abane-CMT bangase babe mfushane ngesimo futhi babe nama-close set set.
I-CMT ayithinti ezinye izingxenye zomzimba njengebuchopho noma inhliziyo, ikhono lokucabanga, nokulinda kokuphila kokubili. Lesi simo asibulali, kodwa ayikho ikhambi.
Cishe amaphesenti angu-15 abantu abane-CMT banefomu le-disorder ehlanganiswe ne-X chromosome (ebizwa nge-CMTX). Ucwaningo luye lwabonisa ukuthi abantu abane-CMTX bangase babe nezibonakaliso zesimiso sezinzwa zangasese ngaphezu kwezimpawu ezivamile. Amacala amakhulu we-CMT angabangela nobunzima bokuphefumula.
I-CMT ihlolwe kanjani?
Uma udokotela ephikisa i-CMT ngenxa yobuthakathaka, isandla, umlenze nonyawo, ukuhlolwa okukhethekile kwamagciwane (i- nerve conduction velocity , noma i-NCV) kanye nemisipha ( electromyogram , noma i-EMG) kungenziwa ukuqinisekisa ukuxilongwa. Izivivinyo ezikhethekile zofuzo zingaveza izinhlobo ezithile ze-CMT.
I-CMT ithathwa kanjani?
Njengoba kungekho ukwelashwa noma indlela yokunciphisa inqubo yesifo, ukwelashwa kugxile ekunciphiseni izimpawu.
Amabhande omlenze nezicathulo ezikhethekile zingasiza ngokuhamba, njengoba kuzokwenza ukwelashwa ngokomzimba . Ngezinye izikhathi ukuhlinzwa kwezinyawo (i- osteotomy noma i- arthrodesis ) kungadingeka ukulungisa izinyawo ezipholile. Imithi inganikezwa ekunciphiseni ubuhlungu be-muscle nokugubha.
Imithombo:
I-Muscular Dystrophy Association. Amaqiniso Nge-Charcot-Marie-Tooth Disease (CMT).
Kedlaya, D. (2002). Isifo se-Charcot-Marie-Tooth. eMedicine.
I-National Institute for Neurological Disorders and Stroke. Ikhasi Lolwazi Lwe-Charcot-Marie-Tooth Disorder.
Zwipp, H., Rammelt, S., Dahlen, C., & Reichmann, H. (1999). Isihlanganisi se-Charcot. I-Orthopade, 28 (6), 550-558.