Izifo ze-Epilepsy ziyimpawu ezibonakaliswe ngamaphetheni okuthintela kwaye mhlawumbi nezinye iimpawu ezinxulumene nazo. Ukuba unamava okuphindaphindiweyo, luncedo kwiqela lakho lezonyango ukuba uyazi ukuba unesifo se-epilromes ngenxa yokuba kukho iindlela ezithile zokonyango eziyiluncedo kuwo ngamnye.
Ukuhluthwa kwesisu se-myoclonic isinye sezona zihluthwayo zokuhluthwa kwesifo sokuhluthwa kwaye ziphakathi kwezona ziqhelekileyo.
Ukuba wena okanye umntwana wakho ufumene ukuba unayo, iimpawu zakho zinokubangela ukwesabisa, ukukhungathekisa, kwaye kunokubonakala kungenakulandelana-kodwa amaninzi amava enayo anenxalenye yale meko kwaye kukho unyango olululo.
Iimpawu
Ukuhluthwa kwe-myoclonic yobuncinane kubonakala kwiintlobo ezintathu zokuthintela okuqalayo ebuntwaneni, ngokuqhelekileyo phakathi kweminyaka emi-5 ukuya kwe-15. Enye yezixhobo zesifo kukuba iintlobo zokutshatyalaliswa ziguquguquka njengoko abantwana befikelela ebuntwaneni kwaye bekhulile.
Ukungabikho kwamatye
Abantwana abanesifo sokuhluthwa kwe-myoclonic yobusana banokuqala ukungabikho kokungabikho kokungabikho, nokuba kaninzi kubhekiswe njengobunzima bokubanjelwa, kubuntwaneni. Ezi zithintelo zibonwa njengeziqendu "zokucima" ngexesha apho umntwana engazi khona indawo engqongileyo kwaye akakwazi ukuphendula imizuzwana embalwa.
Ukungabikho kokuthintela okufutshane kwaye akuhambisani nokunyuka okungavamile okanye okungaqhelekanga, ngoko kungabonwa.
Ukuba umntwana unokubanjwa kokungabikho ngokuphindaphindiweyo, abazali kunye nootitshala banokuqonda ukuba ezi ziqendu azilula-ziphupha iintsuku kunye nokuba ziinguqu ezingenakuzikhethela.
I-Myoclonic seizures
Ezi zibamba ziqala ukuvela emva kweminyaka emininzi emva kokungabikho kokuthinteka. Ziquka ukunyakaza ngokukhawuleza kweengalo, imilenze, okanye umzimba, kunye nokunciphisa izinga lokuqonda.
Ngamanye amaxesha bavela ngexesha lokulala, nokuba xa belele okanye bevuka ekulaleni.
Iingcingo ze-tonic ze- Generic
Kwiinyanga ezimbalwa ukuya kwiminyaka embalwa emva kokuba i-myoclonic seizures iqale, abantu abatsha abane-myoclonic epilepsy baqala ukufumana ukutshatyalaliswa kwe-tonic clonic, okanye ziphi na izinto ezibizwa ngokuba yi- grand mal . Ezi zithintelo zinamandla kakhulu, ezibandakanya ukunyakaza okungenakuzibandakanya kunye nokuqina komzimba, kuhamba kunye nokunciphisa ulwazi okanye ukudlula.
Abantu abanesifo sokuhluthwa kwe-myoclonic ebantwaneni banokuba neengqungquthela ezingaphezulu kweyodwa kwiintlobo zokubamba zilandelana ngokwemigangatho embalwa.
Ukuxilongwa
Ukuxilongwa kwesifo sesisu se-myoclonic isisiseko esisekelwe kwizinto ezininzi ezibonisa le syndrome. Izinto oza kugqirha ugqirha wakho xa uqikelele ukuba unesifo sokuhluthwa kwe-myoclonic ebantwaneni kubandakanya:
- Iindidi zokuthintela kunye nokudibanisa kweentlobo zokuthatha
- Ixesha apho ukutshatyalaliswa kubonakala khona
- Iipateni zeEEG ngexesha lokuvuka nokulala
- Imbali yentsapho yexinzelelo
Uhlobo lokuthunjwa kwe-myoclonic uphawu lokuthengisa lwe-myoclonic epilepsy, kodwa i-myoclonic seizures ingenzeka kunye nezinye i-syndromes.
Ukongezelela, ngaphezu kwesigamu sabantu abanesifo sokuhluthwa kwe-myoclonic ebantwaneni abanesimo esingaqhelekanga somsebenzi wengqungquthela yengqondo, ebonakalayo kwi-electroencephalogram (i-EEG.)
Ezi zepateni zeEEG ziyimisebenzi yesiqhelo esivakalayo ehamba kunye nokukhutshwa kwee-spike-wavew generalized, i-complex spase-wave complexes, kunye / okanye i-discharge-discharges xa ivukile. Izifundo ze-EEG zokulala zingabonisa umzekelo wendidi ezininzi zee-spike-wavee okanye i-Hz spike-wavees complexes.
Ingqondo ye-MRI yomntu onesifo se-myoclonic ebantwaneni ayibonisi naziphi na iipateni ezithile ezibonisa ukuxilongwa. Iimodare zintsha zeengcamango zengqondo zengqondo ezinzulu zingabonisa iimpawu ezithile kwi-stroke ye-myoclonic yebantwaneni, kodwa uphando olwenziwa kule mizila lusetshentshile, kwaye ngoko akukho migaqo ecacileyo yokuhluthwa kwe-myoclonic yolutsha esekelwe kwizifundo zokucinga ngengqondo.
Indima yeGenetics
Ngokubanzi, kukho ukutyeba kobutyebi bokuswela i-myoclonic epilepsy. Abantu abanalo banamathuba aphakamileyo kunamathuba okuba namalungu entsapho naluphi na uhlobo lokuhluthwa.
Iifayile ezikhethekileyo okanye iipatheni zelifa azizange zichongwe ngokucacileyo njengexanduva lokuhluthwa kwe-myoclonic yolutsha, kodwa kubekho ukungaqhelekanga kwemfuyo enokuthi idibaniswe ne-epilepsy yobutsha: rs2029461 SNP kwi- GRM4 ; rs3743123 kwi- CX36, kunye ne-rs3918149 kwi- BRD2 .
Unyango
Kukho iindlela ezininzi zokonyango eziza kudlala.
Mayeza
Kukho amayeza anxamnye nokulwa neentambo. Ezi ziquka i-valproic acid, i-levetiracetam, i-topiramate, i-zonisamide, i-lamotrigine kunye ne-clonazepam.
Uninzi lwabantu abanesifo sokuhluthwa kwe-myoclonic ye-juvenile kuphela kufuneka bathathe imithi yokulwa ne-anti-seizure, echazwe njenge-monotherapy. Ukuba ufumana imiphumo emibi, ugqirha uya kukutshintshela kwenye iyeza. Ukuba awukwazi ukuphucula ngokwaneleyo ukutshatyalaliswa kwakho, ugqirha wakho unokutshintshela umyalelo wakho kwenye iyeza okanye acele unxibelelwano lwamanyango angaphezu kweyodwa ukulawula ngokufanelekileyo kokuthatha.
Ulawulo lokuphila
Ngokuqhelekileyo, njengabantu abaninzi abanesithuthwane, kukho izinto ezithile zokuphila ezinokubangela ukuxhatshazwa. Iimbangela eziqhelekileyo zokubanjelwa kwintlungu yokuhluthwa kwe-myoclonic yolutsha kubandakanya ukungabikho kokulala, ukusetyenziswa kotywala, ukuthatha imithi eyaziwayo ukwandisa umngcipheko wokubamba, kunye nokukhanya kwezibane ezikhanyayo kunye noxinzelelo olunzulu. Ukuphephelwa kwezi ziphumo zokuphila kwindlela ebalulekileyo yokuthintela ukuthintela.
Amachiza okuphepha
Okuthakazelisayo, imithi embalwa yokulwa neentambo ziyaziwa ngokugqithiseleyo ukutshatyalaliswa kokuhluthwa kwe-myoclonic yolutsha. I-Carbamazepine, i-oxcarbazepine, kunye ne-phenytoin inokudambisa ngakumbi ukungabikho kwegazi kunye ne-myoclonus. I-Gabapentin, i-pregabalin, i-tiagabine, kunye ne-vigabatrin inokubangela ukugqithisa ngakumbi, kubandakanywa nokubanjelwa ngokubanzi, kwaye ngoko ke akuqhelekanga ukuba kubekwe le meko.
Ukuhlinzwa
Ngokuqhelekileyo, ukuhlinzwa ngonyama akuyona indlela eqhelekileyo yokunyanga kwintsholongwane ye-myoclonic. Nangona kunjalo, kwezinye iimeko, lukhetho xa ukuxhamla kungaphuculanga ngamachiza.
Prognosis
Ukutshatyalaliswa kwesisu se-myoclonic isantlalontle kudla ngokwabo, oku kuthetha ukuba ziphela ngokwazo ngaphandle kokuhlala zide okanye ziyingozi. Ngokuqinisekileyo, ukuba nokuthinjwa nantoni na, nangethuba elifutshane, into ekufuneka ithathwe ngokungathí sina. Ngoko ke, ukuba unesifo se-myoclonic eselula, kufuneka uthabathe amayeza akho ukunciphisa ubunzima kunye namaxesha amaninzi okubanjwa kwakho.
Ngokuhamba kwexesha, abaninzi abantu abaselula abathatywayo abanesifo sokuhluthwa kwe-myoclonic ebantwaneni banokuphuculwa kwamathambo, kwaye malunga ne-10 ukuya kuma-30 ekhulwini bayaphucula ngokwaneleyo ukuba amayeza ayengasadingeki nakwiidala.
Iimpawu ezinxulumene neNtshontsho ye-Myoclonic Epilepsy
Ubuntu
Olunye uphando luye lwaphawula ukuba abantwana kunye nabaselula abanesifo se-myoclonic ebantwaneni banokuba neqondo elithile lokunciphisa ulwazi lomphakathi okanye iingxaki ngokubambisana. Nangona kunjalo, ezi mpawu azihambelani kuwo wonke umntu onesifo, kwaye akubonakali ukuba kukho ukulahleka kokuziphatha okuzalwayo. Abanye abaphandi bezonyango baphakamise ukuba impembelelo yengqondo yokuphila kunye nokutshatyalaliswa njengomntu osemdala isisona sizathu sokuba ezinye zeengxaki zengqondo.
Ubulumko
Amandla okuqonda kunye namanyathelo okuqonda abantu abanesifo se-myoclonic ebantwaneni, ngokuqhelekileyo, bafana neontanga abangenaso isithuthwane.
Ukuphazamiseka kokulala
Kukho ukuphazamiseka kokulala okuhambelana nokuhluthwa kwe-myoclonic yolutsha. Ezi mphazamiso zingabangela ubuthongo obungaphantsi, obonakalisa ukhathala. Amachiza asetyenziswa ukulawula ukuthungatha kubonakala enempembelelo entle kwiingxaki zokulala.
ILizwi
Ukuxhwala kubangela uxinzelelo, ukungaqiniseki, kunye nokukhathazeka kwabo baneimeko kunye nabazali babo. Inyaniso yokuba isifo sokuhluthwa kwesisu se-myoclonic isifo sesifo sokuhluthwa kwesifo sokuhluthwa kwesifo kunye nesifo esingaziwayo kunokunciphisa ezinye zezinto ezingaqinisekiyo.
Ukuphila nokuhluthwa kufuna ukulungiswa kwendlela yokuphila, kubandakanywa nokuphepha ukuhluthwa kwamathumba, ukuthabatha unyango njengoko kuthethwe, ukukhangela imiphumo emibi xa uqala amachiza amasha, kunye nokuqapha okukhuselekileyo okuchaphazela ukushayela kunye nokuwa kweengozi. Ubuninzi babantu abahlala ne-epilepsy yobuntshantshi babantwana banokulawulwa kakuhle kokuthintela ngamachiza kwaye banako ukuphila ubomi obunempilo novelisayo ngaphandle kwemimiselo ebalulekileyo.
> Imithombo:
> Koepp MJ, uThomas RH, Wandschneider B, Berkovic SF, Schmidt D. Iingcamango kunye neengxabano zesifo se-myoclonic ezisemncinci: kusekudala > isifo sokuxhamla. Iingcali zeRev Neurother. 2014; 14 (7): 819-31.
> Santos BPD, Marinho CRM, Marques TEBS, et al. Ukuthinteka kwe-Genetic kwi-Epilepsy ye-Juvenile Epilepsy: Ukuphononongwa ngokuchanekileyo kwezifundo zobudlelwane bezofuzo. PLoS ONE. 2017; 12 (6): e0179629.