I-syndromes ye-Epileps izimo ezibonakala ngamaphethini wokuwayeka futhi mhlawumbe ezinye izimpawu ezihambisanayo. Uma uhlangabezana nokugwinya okuphindaphindiwe, kuyasiza ithimba lakho lezokwelapha ukwazi ukuthi unesifo se-syndromes sokuthwala ngoba kukhona izindlela ezithile zokwelapha eziwusizo kubo bonke.
Isithuthwane sesisu se-myoclonic esisodwa senye ye-syndromes esaziwayo futhi isesimweni esivamile.
Uma wena noma ingane yakho itholakala ukuthi unayo, izimpawu zakho zingase zisabise, zikhungathekise, futhi zingase zingabonakali zingathandana-kodwa okuningi okuhlangenwe nakho kwakho okuyingxenye yalesi simo futhi kukhona ukwelashwa okuphumelelayo.
Izimpawu
Ukufa kwesisu somntwana kunesifo esinezinhlobo ezintathu zokuqothuka okuqala ebuntwaneni, ngokuvamile phakathi kweminyaka emihlanu kuya kweyishumi. Esinye sezici ze-syndrome ukuthi izinhlobo zokuthunjwa ziguqukela njengezingane zifinyelela ekukhuleni nasekukhuleni.
Ukungabikho kwemithwalo
Izingane ezinesifo se-myoclonic ezisencane zingase ziqale ukungabikho kokungabikho, futhi okuvame ukubhekwa ngokuthi yizinkinga ezincane, kusukela ebuntwaneni. Lezi zinkinga zibonwa njengeziqephu zokuthi "ukukhipha" lapho umntwana engazi khona indawo ezungezile futhi engakwazi ukuphendula imizuzwana embalwa.
Ukungabikho kwemithwalo ye-seizures kufushane futhi akuhambisani nokunyakaza okungavamile noma okungaqondakali ngokomzimba, ngakho-ke bangase bangaboni.
Uma ingane ihlale ihluleka ngokuphindaphindiwe, abazali nabafundisi bangase baqaphele ukuthi lezi ziqephu azilona usuku oluphuthumayo futhi ukuthi ziyizinguquko ezizimele ekuqaphelweni.
Ukuqothulwa kwe-Myoclonic
Lezi zinkinga ziqala ukuvela eminyakeni embalwa emva kokungabikho kokushiya. Ziqukethe ukunyakaza okungazelelwe kwezingalo, imilenze, noma umzimba, kanye nokunciphisa izinga lokuqonda.
Ngezinye izikhathi zikhona ngezikhathi zokulala, noma lapho zilele noma zivuka ekulaleni.
Ukuthathwa kwe-tonic clonic ejwayelekile
Ezinyangeni ezimbalwa kuya eminyakeni embalwa emva kokuqala kwe-myoclonic, abantu abasha abanesifo se-myoclonic ezincane abaqala ukubhekana nokuthathwa kwe-tonic clonic, noma yiziphi izinto ezivame ukubhekwa njengezinkinga ezinkulu . Lezi zigameko ziyingozi kakhulu, ezibandakanya ukunyakaza okungenakuzikhethela nokuqina komzimba, okuhambisana nokunciphisa ukuqaphela noma ukuphuma.
Abantu abanesifo se-myoclonic ezincane esinezingane ezincane bangase babe neziqephu lapho izinhlobo ezingaphezu kweyodwa zokuthumba zenzeka ngokulandelana phakathi kwemizuzu embalwa.
Ukuxilongwa
Ukuxilongwa kwesifo sokuphuza i-myoclonic yezingane kuyisekelwe ezintweni eziningana ezibonisa le syndrome. Izici udokotela wakho azozicabangela uma unquma ukuthi unesifo sokufa kwesisu se-myoclonic sihlanganisa:
- Izinhlobo zokwehluleka kanye nokuhlanganiswa kwezinhlobo zokuthungatha ozizwayo
- Isikhathi lapho ukuqubuka kubonakala khona
- Amaphethini e-EEG ngesikhathi sokuvuka nokulala
- Umlando womndeni wokuwa
Uhlobo lwe-myoclonic seizure uhlobo lwesibonakaliso sokuthengisa lwe-epileptic ye-myoclonic yezingane, kepha ukuqubuka kwamagciwane kungenziwa nakwezinye izifo zesithuthwane.
Ukwengeza, abangaphezu kwesigamu sabantu abanesifo sokufa kwesisu se-myoclonic banamaphethini angavamile okwenziwa kobuchopho, abonakala ku-electroencephalogram (EEG.)
Lezi zindlela ze-EEG ziyimisebenzi evamile yangemuva ehambisana nokukhishwa kwe-spike-wave generalized, ama-complex multiple wave wave, kanye / noma ukukhishwa okugxile ekuphumeni. Izifundo ze-EEG zokulala zingabonisa iphethini lezinkimbinkimbi eziningi ze-spike-wave noma izinkinobho ze-Hz spike-wave ezine noma ezine.
I-MRI yobuchopho yomuntu one-epilepsy ye-myoclonic yezingane ayibonisi noma yimaphi amaphethini athile akhomba ukuxilongwa. Izindlela ezintsha zokuhlolwa kobuchopho obuyinkimbinkimbi zingabonisa izici ezithile ekufweni kwesisu somntwana, kodwa ucwaninga kulezi zindlela zisezingeni elisha, ngakho-ke azikho izimiso ezicacile zokufelwa kwe-myoclonic yezingane ezisuselwa ekuhloleni kokucubungula ubuchopho.
Indima Yezofuzo
Konke, kukhona ukuthambekela kwefa lokufa kwesisu se-myoclonic. Abantu abanakho banamathuba aphakeme kunamathuba okuba namalungu omndeni nganoma yiluphi uhlobo lokufa kwesithuthwane.
Izakhi zofuzo ezicacile noma amaphethini wefa azizange zikhonjiswe ngokucacile njengesibophezelo sokufa kwesisu somntwana, kepha kuye kwaba nokukhubazeka okwesithathu kwezakhi zofuzo ezingase zihlotshaniswe nokufelwa kwe-myoclonic yezingane: rs2029461 SNP ku- GRM4 ; rs3743123 ku- CX36, naku-rs3918149 ku- BRD2 .
Ukwelapha
Kunezinqubo eziningana zokwelapha ezitholayo.
Imithi
Kukhona imithi elwa nokulwa nokuthumba. Lokhu kufaka i-valproic acid, i-levetiracetam, i-topiramate, i-zonisamide, i-lamotrigine, ne-clonazepam.
Iningi labantu abanesifo sofuba se-myoclonic banesidingo sokuthatha imithi eyodwa yokulwa nokuthumba, echazwa ngokuthi i-monotherapy. Uma uhlangabezana nemiphumela emibi, udokotela wakho uzokutshela kwenye imithi. Uma ungenakho ukuthuthukiswa okwanele kokuhlukunyezwa kwakho, udokotela wakho angashintsha imithi yakho kwenye imithi noma anikeze inhlanganisela yemithi engaphezu kweyodwa yokulawulwa kokulawula kahle.
Ukuphathwa kwempilo
Ngokuvamile, njengabantu abaningi abanesithuthwane, kunezici ezithile zokuphila ezingaba nzima ukugubha. Izifo ezivame kakhulu zokubamba ukushona kwe-myoclonic ezisencane zihlanganisa ukulahlwa ubuthongo, ukusebenzisa utshwala, ukuthatha imithi eyaziwa ngokwandisa ingozi yokugubha, nokubhekwa kwezibani ezikhanyayo nokucindezeleka okukhulu. Ukugwema lezi zindlela zokuphila kuyisici esibalulekile sokuvimbela ukuthunjwa.
Imithi yokugwema
Ngokuthakazelisayo, imithi embalwa yokulwa nokuthunjwa yaziwa ukuthi ibuhlungu kakhulu ukuhlukunyezwa kwengane yesisu se-myoclonic. I-Carbamazepine, i-oxcarbazepine, ne-phenytoin ingalimaza ukungabi khona kwegazi nokungena kwe-myoclonus. I-Gabapentin, i-pregabalin, i-tiagabine, ne-vigabatrin nayo ingase ibe yingozi kakhulu, kufaka phakathi ukuhlukunyezwa okujwayelekile, ngakho-ke akuvamile ukuthi kubekwe lesi simo.
Ukuhlinzwa
Ngokuvamile, ukuhlinzwa kwesithuthwane akusona indlela yokwelashwa evamile yokufelwa kwe-myoclonic yezingane. Kodwa-ke, kwezinye izimo, kuyinto yokukhetha uma ukuwayeka kungaphuthuki nemithi.
Isibikezelo
Ukuqothulwa kwesisu se-myoclonic yezingane kuvame ukuzilinganisa, okusho ukuthi ziphela ngokwazo ngaphandle kokuqhubeka isikhathi eside noma eziyingozi. Yiqiniso, ukuthunjwa nhlobo, ngisho nesikhashana, kuyinto okufanele ithathwe ngokungathí sina. Ngakho-ke, uma une-epilepsy ye-myoclonic yezingane, udinga ukuthatha imithi yakho ukunciphisa ubukhulu nokuvama kokuthathwa kwakho.
Ngokuhamba kwesikhathi, intsha eningi etholakala ukuthi isifo sofuba se-myoclonic yezingane sithola ukuphuthuma komzimba, futhi amaphesenti angaba ngu-10 kuya kwangu-30 aphuthumayo kangangokuthi imithi ingasadingeki kudingeke ibe ngumuntu omdala.
Imikhuba Ehlobene Ne-Epilepsy Yezingane Ezinganeni
Ubuntu
Ucwaningo oluthile luye lwaphawula ukuthi izingane kanye nabantu abadala abasha abane-myoclonic epileptic bangase banciphise izinga lokuqwashisa umphakathi noma izinkinga ngobungane bomuntu siqu. Noma kunjalo, lezi zici azihambisani nawo wonke umuntu onesifo, futhi akubonakali ukuthi kukhona ukulahlekelwa kokuzalwa okuhlobene nokuzalwa. Abanye abacwaningi bezokwelapha baye basikisela ukuthi impikiswano yengqondo yokuphila nokuhlushwa njengomdala omdala kungase kube isizathu sezinye zezindaba eziphathelene nokuphathwa kwengqondo.
Intelligence
Amakhono okucabangela kanye nezinyathelo zokuhlakanipha zabantu abanesifo sokufa kwesisu se-myoclonic, ngokwesilinganiso, kufana nelabo ontanga abangenaso isithuthwane.
Ukuphazamiseka kokulala
Kukhona ukuphazamiseka kokulala okuhlobene nokufelwa kwe-myoclonic yezingane. Lezi ziphazamiso zingabangela ubuthongo obuncane, obonakala njengokukhathala. Imithi esetshenziselwa ukulawula ukudonsa ibonakala ibangele impumelelo kulezi zinkinga zokulala.
Izwi elivela
Ukufa kwesibindi kubangela ukucindezeleka, ukungaqiniseki, nokukhathazeka kulabo abanesimo kanye nabazali babo. Iqiniso lokuthi isifo sokuphuza i-myoclonic yezingane esaziwa yisifo sokufa kwesifo sofuba ngesifo esaziwayo kanye nesandulela-ngculaza kunganciphisa okunye kokungaqiniseki.
Ukuphila ngesifo sokuphuza kudinga ukulungiswa kwendlela yokuphila, okubandakanya ukugwema izifo zokuphefumula, ukuphuza imithi njalo njengoba kunqunywe, ukubuka imiphumela emibi lapho uqala imishanguzo emisha, nokuqwashisa ukuphepha okuthinta ukushayela nokuwa kwezingozi. Iningi labantu abahlala nesifo sofuba se-myoclonic abancane banokulawulwa kahle kokunakekelwa ngemithi futhi bayakwazi ukuphila ukuphila okunempilo nokukhiqizayo ngaphandle kwemingcele ebalulekile.
> Imithombo:
> Koepp MJ, Thomas RH, Wandschneider B, Berkovic SF, Schmidt D. Imiqondo kanye nezingxabano zesifo se-myoclonic yezingane: namanje > i-enigmatic > isithuthwane. Uchwepheshe we-Rev Neurother. 2014; 14 (7): 819-31.
> Santos BPD, Marinho CRM, Marques TEBS, et al. Ukutholakala kwe-Genetic ku-Efupsy Myoclonic Epilepsy: Ukubuyekezwa kwesistimu yezifundo zohlobo lwezofuzo. PLoS ONE. 2017; 12 (6): e0179629.