Matenda a ubongo okhwima
Matenda a Canavan ndi amodzi mwa magulu a majeremusi omwe amatchedwa leukodystrophies omwe amachititsa kuti ziwalo za myelin zikhale zolakwika zomwe zimaphimba maselo a ubongo mu ubongo. Mu matenda a Canavan, kusintha kwa majeremusi kwa jeremusi 17 kumayambitsa kusoŵa kwa puloteni yotchedwa aspartoacylase. Popanda mavitaminiwa, vutoli limayambitsa chiwonongeko cha myelin mu ubongo.
Izi zimayambitsa ubongo wathanzi kuti ukhale minofu yambiri yomwe ili ndi malo odzaza madzi.
Matenda a Canavan amachokera muyeso ya autosomal , yomwe imatanthauza kuti mwana ayenera kulandira kachilombo kamodzi ka genetic mutated kuchokera kwa kholo lililonse kuti akule matendawa. Ngakhale matenda a Canavan angakhalepo m'fuko lina lililonse, amapezeka kawirikawiri pakati pa Ayuda a Ashkenazi ochokera ku Poland, Lithuania, ndi kumadzulo kwa Russia, ndi pakati pa Saudi Arabia.
Zizindikiro
Zizindikiro za matenda a Canavan zimawonekera kuyambira ali wakhanda ndipo zimakhala zoipitsitsa patapita nthawi. Zingaphatikizepo izi:
- kuchepa kwa minofu (hypotonia)
- Mitsempha yofooka ya khosi imayambitsa vuto lopanda mutu
- mutu waukulu kwambiri (macrocephaly)
- miyendo imasungidwa molunjika bwino (kugwedezeka)
- minofu ya manja imasinthidwa
- Kutaya makompyuta
- kuchepetsa maganizo
- kugwidwa
- khungu
- kudyetsa mavuto
Kudziwa
Ngati zizindikiro za khanda zikulongosola matenda a Canavan, mayeso angapo angayesedwe kuti atsimikizidwe kuti ali ndi matenda.
Chithunzi chojambulidwa ndi computed tomography (CT) kapena maginito a magnetic resonance (MRI) a ubongo amayang'ana kuwonongeka kwa minofu ya ubongo. Mayesero a magazi angathe kuchitidwa kuti awonetsere mavitamini omwe akusowa kapena kuyang'ana kusintha kwa chibadwa komwe kumayambitsa matendawa.
Chithandizo
Palibe chithandizo cha matenda a Canavan, kotero mankhwala amatha kuyang'anira kuthetsa zizindikiro.
Kulandira thupi, kugwira ntchito, ndi kulankhula kungathandize mwana kukwaniritsa zomwe angathe. Chifukwa chakuti matenda a Canavan amakula mofulumira, ana ambiri amamwalira ali wamng'ono (asanakwanitse zaka 4), ngakhale kuti ena angapitirirebe msinkhu wawo mpaka zaka makumi awiri.
Mayeso a Zachibadwa
Mu 1998, American College of Obstetricians ndi Gynecologists adalandira mfundo povomereza kuti madokotala amapereka chithandizo kwa othandizira Canavan matenda kwa anthu onse Ashkenazi Chiyuda. Wothandizira ali ndi jini imodzi ya gene gene mutation, kotero iye sakhala ndi matenda koma angathe kupatsira ana kusintha kwa jini. Akuti anthu 1 mwa anthu 40 aliwonse a Ayuda aku Ashkenazi amakhala ndi jini kusintha kwa matenda a Canavan.
Ndibwino kuti maanja omwe ali pachiopsezo chotenga jini la mutated ayesedwe asanayambe mwana. Ngati zotsatira zowonetsera zimasonyeza kuti makolo onse ali ndi zonyamulira, aphungu angapereke zambiri zokhudzana ndi chiopsezo chokhala ndi mwana ndi matenda a Canavan. Mabungwe ambiri achiyuda amapereka mayeso achibadwa a matenda a Canavan ndi mavuto ena osawoneka ku United States, Canada, ndi Israel.
Zotsatira:
> "Matenda a Canavan." Zolakwa A - Z. 2 July 2008. National Organisation for Neurological Disorders ndi Stroke.
> "Matenda a Canavan." Mitundu ya Leukodystrophy. 2 Aug 2007. United Leukodystrophy Foundation.
> "Kodi Matenda a Canavan N'chiyani?" Matendawa. Association of Tay Sachs & Allied Diseases Association.