Kunzwisisa Juvenile Myoclonic Kuchepa

Epilepsy syndromes ndiyo mamiriro ezvinhu anowanikwa nemaitiro emagumisiro uye zvichida zvimwe zviratidzo zvinosanganiswa. Kana uchinge uchinge uchinge uchinge wakagadzikana, unobatsira boka rako rezvehutano kuziva kana iwe une imwe yehutachiona hwekurwadziwa nokuti pane nzira dzakananga dzokurapa dzinobatsira mumwe nomumwe wavo.

Juvenile myoclonic epilepsy ndechimwe chezvakagadziriswa syndromes uye ichi chiri pakati pezvinowanikwa.

Kana iwe kana mwana wako akaonekwa kuti unawo, zviratidzo zvako zvingave zvinotyisa, zvinogumbura, uye zvingaratidzika zvisingawirirane-asi zvizhinji zvezviitiko zvauri kuwana ndezvechikamu chechiitiko ichi uye kune kurapa kwakanaka kwerapi.

Zviratidzo

Vechidiki myoclonic epilepsy inoratidzwa nemhando mitatu yekugumburwa kunotanga muhuduku, kazhinji pakati pemakore mashanu kusvika ku15. Chimwe chezvinhu zvechirwere ndechekuti kubatwa kwemarudzi kunopinda sevana vachiri kuyaruka uye vakuru.

Kusagadzikana kunokonzera

Vana vane mwana wechirwere myoclonic epilepia vanogona kutanga kutadza kusagadzikana, uyewo kunowanzozivikanwa sevana vaduku kunetseka, vachiri vaduku. Izvi zvinowanzoonekwa sezvikamu zve "kukonzera" panguva iyo mwana asingazivi nzvimbo dzakapoteredza uye asingakwanisi kupindura kwemaminitsi mashomanana.

Kusava nekunonoka kwakapfupi uye hakufambidzwi nekufamba kusina kujairika kana kusina kunaka, saka vanogona kuenda vasingazivi.

Kana mwana akadzoka achirega kushayikwa, vabereki nevadzidzisi vanogona kuziva kuti zvikamu izvi hazvirevi zuva-kurota uye kuti zvinenge zvisina kuchinja mukuziva.

Myoclonic seizures

Izvi zvinowanzotanga kuitika makore mashomanana mushure mokunge kusipo kusagumburwa. Izvo zvinosanganisira kushamiswa kwechimbichimbi kwemaoko, makumbo, kana muviri, pamwe nekuderera kwehutano hwekuziva.

Dzimwe nguva dzinowanzoitika panguva dzokurara, kana paunorara hope kana pakumuka kubva kurara.

Generalized tonic clonic kugumburwa

Mwedzi mishomanana kusvika kumakore mashomanana mushure mokutambudzika kwemyoclonic kutanga, vechiduku vane vana vechirwere chemyoclonic vanotanga kuve nehuwandu hwetoniic clonic kugumburwa, kana kuti chii chinowanzotumidzwa sekutambudzika kukuru . Izvi zvinotambudza zvakanyanya, zvinosanganisira kufamba kwekusununguka nekuoma kwemuviri, pamwe chete nekuderera kwekuziva kana kubuda.

Vanhu vane chirwere chinokonzera myoclonic vechidiki vanogona kunge vane zvikamu umo kune imwe yenzira dzekutora dzinoitika sequentially mukati memaminitsi mashomanana.

Kuziva

Kuongororwa kwevechirwere myoclonic epileptic kunobva pane zvimwe zvinhu zvinoratidza ichi chirwere. Zvinhu izvo chiremba wako achazvifungisisa paunenge uchitarisa kana iwe une vana vechirwere chepamuviri chinosanganisira:

Myoclonic seizure type chiratidzo chekutengeswa kwevana vaduku myoclonic epilepsy, asi kugumburwa kwemyoclonic kunogona kuitika pamwe nedzimwe nhengo dzekurwa kwechirwere.

Uyezve, inopfuura hafu yevanhu vane vana vechirwere myoclonic epilepsy vane maitiro asina kukodzera ehutachiona hwemaitiro, ayo anoonekwa pa electroencephalogram (EEG.)

Idzi maEEG maitiro ndeyechiitiko chinowanzoitika chekuita uye pamwe chete nemafuta akawandisa-spike-wave, multiple spike-wave complexes, uye / kana focal discharges pavanomuka. Kurara kweEEG zvidzidzo zvinogona kuratidza muenzaniso wezvikwata zvakawanda zvemajasi-wave kana matatu kusvika mana Hz spike-wave complexes.

Uropi MRI yemunhu ane chirwere chinokonzera myoclonic yeruzhinji haisi kuratidza chero mararamiro anoita kuti aonekwe. Zvitsva zvitsva zveongororo dzakagadzirwa nehupfungwa dzakagadziriswa zvinogona kuratidza zvimwe zviitiko mumwana wechirwere myoclonic, asi kutsvakurudza mune izvi zvinoitika zvisati zviri zvitsva, uye naizvozvo hakuna mararamiro ekujekesa kwevana vaduku mhecheniic epilepsy kubva pane zvidzidzo zvepfungwa zvepfungwa.

Basa Rokuberekwa kweGenetics

Pasi pose, kune tsika inowanikwa yevana vechirwere chinokonzera myoclonic. Vanhu vane iyo vane mukana wepamusoro kupfuura wepakati pevamwe wekuva nemitezo yemhuri nemhando ipi zvayo yekufa.

Mamwe mazita ejeni kana mararamiro asina nhaka haana kuziviswa zvakajeka seanokonzerwa nevechirwere myoclonic epilepsy, asi pane zvitatu zvakashata zvingave zvakabatanidzwa nevana vaduku mhoclonic epilepsy: rs2029461 SNP mu GRM4 ; rs3743123 muCX36, uye rs3918149 mu BRD2 .

Kurapa

Kune nzira dzakasiyana-siyana dzokurapa dzinozoita.

Mishonga

Ikoko kune mishonga inopesana nehutachiona. Izvi zvinosanganisira valproic acid, levetiracetam, topiramate, zonisamide, lamotrigine, uye clonazepam.

Vanhu vazhinji vane vana vechirwere myoclonic vanongoda kutora mishonga inopesana nekutengesa, inotsanangurwa se monotherapy. Kana iwe ukava nemigumisiro, chiremba wako achakuendesa kune imwe mishonga. Kana iwe usingakwanisi kugadziridzwa zvakakwana kwekugumburwa kwako, chiremba wako angashandura mishonga yako kune imwe mishonga kana kupa mishonga yemiti inopfuura imwechete yekugadzirisa kukwanisa kugadzirisa.

Lifestyle management

Muvanhu vakawanda, sekune vanhu vakawanda vane chirwere chekufa, pane zvimwe zviitiko zvehupenyu zvinogona kukurira kukanganisa. Zvinonyanya kukonzera kukanganisa mumwana wechirwere chemyoclonic kunosanganisira kubata kurara, kushandisa doro, kutora mishonga inozivikanwa kuwedzera njodzi yekugumburwa, uye kutarisana nemagetsi anotsvaira uye kushungurudzika kukuru. Kuzvidzivirira kwezvinhu izvi zvinoita kuti munhu ave nemafambiro ehupenyu chinhu chinokosha chekudzivirira kubatwa.

Mishonga yekudzivisa

Zvinofadza kuti mishonga mishomanana yekurwisa kugunun'una inozivikanwa kuti iwedzere kukura kwevana vechirwere myoclonic. Carbamazepine, oxcarbazepine, uye phenytoin zvinogona kukuvadza kusagadzikana kwekusavapo uye myoclonus. Gabapentin, pregabalin, tiagabine, uye vigabatrin inogonawo kukurira zvakanyanya, kusanganisira kubatwa kwevanhu vose, uye naizvozvo hazviwanzoongororwa nekuda kwechiitiko ichi.

Surgery

Kazhinji, chirwere chekushaya chirwere hachisi chirwere chinowanzoitwa kurapwa kwemukomana myoclonic epilepsy. Zvisinei, pane dzimwe nguva, iyo inosarudzo kana kukanganisa kusingavandudzi nemishonga.

Prognosis

Kubatwa kwechirwere chevana chirwere chemyoclonic kazhinji kacho kuzvisarudzira, izvo zvinoreva kuti zvinoguma pachavo pachazvo pasina kuwedzera kwenguva yakareba kana nengozi. Zvechokwadi, kubatwa zvachose, kunyange kwenguva pfupi, chinhu chinofanira kutorwa zvakanyanya. Nokudaro, kana iwe une vana vechirwere myoclonic, iwe unoda kutora mishonga yako kuderedza kusagadzikana uye kuwandisa kwekugumburwa kwako.

Nokufamba kwenguva, vakawanda vechidiki vanoonekwa kuti vane vana vechirwere chemyoclonic vanowana humwe huri nani hwekugumburwa, uye anenge 10 kusvika ku30 muzana vanovandudza zvakakwana kuti mishonga ingasave ichidiwa munguva yose yevanhu vakuru.

Tsika Dzakabatana neVaduku veMyclonic Epilepsy

Unhu

Zvimwe zvitsvakurudzo zvitsvakurudzo zvakaratidza kuti vana nevechidiki vaduku vane vana vekushaya myoclonic epilepiy vangave nehuwandu hwekuderedza hukama hwevanhu kana matambudziko nehukama hwevanhu. Zvisinei, zviito izvi hazvifananidzi kune munhu wose ane chirwere, uye hachiratidzi kuti pane zvakasanganiswa kuzvidzora kwehutsika. Vamwe vatsvakurudzi vezvokurapa vakaratidza kuti pfungwa dzepfungwa dzakagadzikana dzekurarama nekugumburwa semunhu wechidiki angave ari chikonzero chezvimwe zvezvinhu zvinotarisana nehupfungwa.

Intelligence

Unyanzvi hwekuziva uye huchenjeri hwevanhu vane mhoclonic epilepsy yevana, pamwero, zvakafanana nevezera rako vasina chirwere chekufa.

Kurara kuvhiringidzika

Kune matambudziko okurara anowanikwa nevana vechidiki myoclonic epilepsy. Izvi zvinogona kukonzera kurara kwakakwana, izvo zvinoratidza sekuneta. Mishonga inoshandiswa kugadzirisa kutaridzika inoita kunge inobatsira pamatambudziko aya ekurara.

Shoko Rinobva

Kusuruvara kunokonzera kushushikana, kusava nechokwadi, uye kunetseka kune avo vane mamiriro ezvinhu uye nevabereki vavo. Ichokwadi kuti mwana wechirwere myoclonic epilepsy anozivikanwa epilepsie syndrome neanozivikanwa kurapwa uye kufungidzira kunogona kudzivisa zvimwe zvekusava nechokwadi.

Kurarama nechirwere chinoda kuchinja mararamiro, kusanganisira kuregererwa kwechirwere chinokonzera kuora mwoyo, kugara uchishandisa mishonga sezvaunenge wataurwa, uri kutarisira migumisiro paunotanga mishonga mitsva, nekuziva kuchengetedzwa kwekuchengetedza kunokanganisa kutyaira nekuwira pangozi. Vanhu vazhinji vanorarama nevana vechirwere myoclonic vane chirwere chekubata zvakanaka nekudzivirira nemishonga uye vanogona kurarama hupenyu hune hutano uye hune zvibereko pasina zviremera zvakanyanya.

> Sources:

> Koepp MJ, Thomas RH, Wandschneider B, Berkovic SF, Schmidt D. Mazano uye kukakavadzana kwevechirwere myoclonic yeruzhinji: zvakadaro > an enigmatic > epilepsy. Nyanzvi Rev Neurother. 2014; 14 (7): 819-31.

> Santos BPD, Marinho CRM, Marques TEBS, et al. Kukanganisa kweGenetic muVechidiki Myoclonic Epilepsy: Kurongeka kwenzira dzekuongorora masangano ezvibonde. PLoS ONE. 2017; 12 (6): e0179629.