Masifunde ngeSifo seLafora. Ngaba umntwana wakho unazo ezi mpawu?

Ngaba umntwana wakho ubonakala egungqa rhoqo? Okanye ngaba unengxaki yokugxila kumsebenzi wesikolo? Mhlawumbi uphawule utshintsho kwindlela athetha okanye aziphatha ngayo? Ezi zizinto ngamanye amaxesha esingazinaki kangako, kodwa zinokuba ziimpawu zesifo esingaqhelekanga esibizwa ngokuba yiLafora Disease. Ngoko masithethe ngale nto kancinci namhlanje, akunjalo?

Yintoni isifo seLafora?

Ngamafutshane, isifo iLafora luhlobo lwesifo sokuwa. Sibonakaliswa kukuxhuzula rhoqo (ukuxhuzula) kunye nokwehla kancinci kancinci kwamandla omntwana okucinga, ukukhumbula, nokuqonda izinto (umsebenzi wokuqonda). Usenokuva ugqirha esibiza ngokuba yi-'Lafora progressive myoclonus epilepsy'. Elo ligama elipheleleyo lezonyango zaso.

Ezi mpawu zihlala ziqala xa umntwana ekhula, malunga neminyaka esibhozo ubudala, okanye xa ekhula. Into ebuhlungu kukuba, ezi mpawu zihlala zisiba mandundu ngokuhamba kwexesha. Nokuba unyango lukhona, isifo seLafora sinokubangela iingxaki ezisongela ubomi kwiminyaka eli-10. Nangona kunjalo, ngophando olutsha kunye nonyango oluphuculweyo, abanye abantwana baphila ixesha elide kunokuba bekulindelwe. Ngoko ke musa ukuphelelwa lithemba.

Ingaba esi sifo seLafora sichaphazela abantu abaninzi?

Ewe, esi sisifo esingaqhelekanga . Izifundo ezenziwe kwihlabathi liphela zibonisa ukuba malunga nabantu abane kwisigidi bahlakulela esi sifo minyaka le. Nangona kunjalo, eli nani lisenokuba phezulu. Oku kungenxa yokuba abanye abantu abafumani ngxelo ifanelekileyo okanye isifo asixelwanga, ngoko ke la manani anokubonakala esezantsi.

Zithini iimpawu zesifo seLafora?

Umntwana onesifo seLafora unokufumana enye okanye ngaphezulu kwezi mpawu zilandelayo:

• Ukuxhuzula: Olu luphawu oluphambili.
• Ukuwohloka kwengqondo: Umntwana usenokungakwazi ukuqonda izifundo kwaye anokufumana kunzima ukufunda izinto ezintsha.
• Ubunzima bokuthetha: Ukungacaci kwamagama kunye nokucotha kwentetho kunokwenzeka.
• Ukulahlekelwa kukulinganisela, njengokushukuma xa uhamba (imingeni yokulinganisela nokulungelelanisa): Ngokukodwa, kunokuba nzima ukuhamba emgceni othe tye, njengokwenza iimpazamo xa ubamba izinto.
• Ukuqina kwemisipha (ukuxakeka): Kuba nzima ukugoba okanye ukolula amalungu omzimba, kwaye umzimba uzive uqinile.
• Utshintsho kwindlela oziphatha ngayo: Usenokuba nenkani ngakumbi kunangaphambili, okanye usenokuba nomsindo nje.
• Ukutshintshatshintsha kweemvakalelo: Ngamanye amaxesha, iimeko ezifana nokudakumba zinokubakho, nto leyo ethetha ukuba uziva ulusizi ngalo lonke ixesha, ungenamdla kwinto ethile. Okanye ungahlakulela ukungakhathali.
• Ukulahlekelwa yinkumbulo kunye neemeko ezifana ne-dementia: Ulibala nezinto ezincinci, kwaye ngokuhamba kwexesha, usenokungakhumbuli nokuba ungubani okanye ukuba uphi.

Iintlobo zokuxhuzula ezibonwa kwisifo seLafora

Umntwana wakho usenokuba neentlobo ezahlukeneyo zokuguliswa yiLafora syndrome. Makhe sijonge ukuba ziintoni ezi:

• Ukuxhuzula kwe-Myoclonic: Oku kushukuma kwemisipha ngokukhawuleza, ngequbuliso, okungenanjongo. Kunokuba kufutshane, njengokutshayiswa kombane. Olu hlobo lokuxhuzula lubonakala kakhulu kwisifo seLafora.
• Ukuxhuzula kwamehlo: Oku kunokubangela ukulahleka kombono ngequbuliso, okanye ukubona izinto ezingekhoyo.
• Ukuxhuzula kweTonic-clonic: Oku kubizwa ngabantu abaninzi ngokuba yi-"seizure." Izihlunu zomzimba ziyaqina kwaye ziqine.
• Ukuxhuzula okungekhoyo: Kule meko, umntwana ngequbuliso uyeka ukwenza into ethile aze ajonge nje esibhakabhakeni. Ubuyela ezingqondweni kwimizuzwana embalwa.
• Ukuxhuzula okungaphelelanga okuntsonkothileyo: Oku kunokubandakanya ukujonga nje ungenanto, ukushukumisa amalungu omzimba ngokungenanjongo, okanye ukwenza into efanayo ngokuphindaphindiweyo.
• Ukuxhuzula komzimba okubangelwa kukuxhuzula: Oku kwenzeka xa izihlunu zomzimba ziphelelwa ngamandla ngequbuliso, nto leyo ebangela ukuba umntwana awe phantsi.

Ezi zifo ziya zisiba mandundu njengoko isifo siqhubeka kwaye sixhaphaka. Nangona oogqirha benokuzilawula kwasekuqaleni, kuba nzima ngakumbi ngokuhamba kwexesha.

Indlela iimpawu zeLafora ezikhula ngayo kancinci kancinci

Iimpawu zesifo seLafora ziya zisiba mandundu ngokuhamba kwexesha. Oku kunokuhlala ukusuka kwiinyanga ezimbalwa ukuya kwiminyaka embalwa. Ekuqaleni, ezi mpawu ziqala njengezinto ezincinci ezicaphukisayo, kodwa kancinci kancinci zinciphisa amandla omntwana okwenza imisebenzi yemihla ngemihla kunye nokusebenzisana nabanye.

Khawucinge nje, emva kweminyaka emithandathu efunyaniswe ukuba unesifo iLafora, malunga nesiqingatha sezigulane ziyayeka ukulawula iintshukumo zazo . Umntwana wakho usenokungakwazi ukuhamba, ukuthetha, okanye ukuhlala yedwa. Ngaxa lithile, usenokufuna ukhathalelo oluhlala iiyure ezingama-24 ukuze ahlale ekhululekile. Oku kuyadanisa ukuva, kodwa kubalulekile ukuzazi ezi zinto.

Ziqala nini iimpawu zeLafora?

Iimpawu zeLafora zihlala ziqala phakathi kweminyaka esi-8 neli-19. Ziqheleke kakhulu phakathi kweminyaka eli-14 neli-16. Nangona kunjalo, ngamanye amaxesha esi sifo sinokuchaphazela abantwana abaneminyaka emi-5 ubudala.

Yintoni unobangela wesi sifo seLafora?

Eyona nto ibangela isifo seLafora kukuguquka kwemfuza.. Ukuchaneka, esi sifo sibangelwa kukuguquka kwezakhi zofuzo `EPM2A` okanye `EPM2B (NHLRC1)`. Oku kwenzeka ngolu hlobo: Xa umntwana ekhulelwe, umntwana kufuneka afumane ikopi enye yale jini iguquliweyo evela kumama nakutata. Ngokwezonyango, oku kubizwa ngokuba yi -`autosomal recessive` inheritance .

Ezi genes, ezibizwa ngokuba yi-`EPM2A` okanye i-`EPM2B`, zinoxanduva lokucubungula ngokufanelekileyo into ebizwa ngokuba yi -glycogen egcina amandla emzimbeni wethu. Ngoku, xa ezi genes zitshintsha, imiyalelo yokucubungula ngokufanelekileyo i-glycogen iyabhideka. Okwenzekayo ke kukuba le glycogen ayisetyenziswa ngokufanelekileyo, kwaye kuvela amaqhuma amancinci (abizwa ngokuba yi -Lafora bodies) . Ezi genes zeLafora zifakwa kwiiseli zenkqubo yethu yemithambo-luvo, izihlunu, amalungu angaphakathi, kunye nezicubu. Emva koko inkqubo yethu yemithambo-luvo kunye namanye amalungu apho ezi mizimba zeLafora zifakwa khona azikwazi ukusebenza ngokufanelekileyo. Yiyo loo nto ibangela iimpawu zesifo seLafora. Uyaqonda?

Ngubani osengozini enkulu yokufumana isifo seLafora?

Nabani na angafumana isifo seLafora, kodwa sixhaphake kakhulu kubantu abahlala kumazwe ajikeleze ummandla weMeditera (njengeSpain, iFransi, ne-Itali), kumazwe aseMntla Afrika, eIndiya, nasePakistan .

Ziziphi iingxaki ezinokubakho zesifo seLafora?

Isifo seLafora sinokubangela imeko ebizwa ngokuba yi-'status epilepticus', imeko apho ukuxhuzula kuqhubeka ixesha elingaphezu kwemizuzu eli-15 ngexesha, okanye xa ukuxhuzula kuphela kuze kulandelwe kuxhuzula okunye ngaphambi kokuba ingqondo ibuyele esiqhelweni. Le yingxamiseko yezonyango esongela ubomi.

Xa isifo seLafora siba sibi kakhulu, imizimba yeLafora endikhankanyileyo ngaphambili iqokelelana emzimbeni, nto leyo ebangela ukuba amalungu omzimba womntwana angasebenzi kakuhle, ngamanye amaxesha ayeke ngokupheleleyo. Le yimbangela yokufa ngokukhawuleza kwesi sifo.

Isifo seLafora sifunyanwa njani?

Ngokwesiqhelo, xa umntwana eqala ukuba nesithuthwane, abazali okanye abagcini bomntwana baya kubona ugqirha. Ugqirha uya kwenza uvavanyo lomzimba, uvavanyo lwemithambo-luvo, aze abuze ngeempawu zomntwana wakho kunye nembali yakhe yezonyango.

Emva koko, baya kuyalela iimvavanyo ezininzi ukuze bafumane unobangela wokwenene wezi mpawu. Ezi vavanyo zingabandakanya:

• I-EEG (i-Electroencephalogram - i-EEG): Le ilinganisa umsebenzi wombane wengqondo.
• I-MRI (Umfanekiso weMagnetic Resonance - MRI): Oku kuthatha umfanekiso ocacileyo wobuchopho.
• I-biopsy yolusu: Ngamanye amaxesha kuthathwa iqhekeza elincinci lesikhumba lize lihlolwe ukuba alinazo na ii-Lafora bodies.
• Uvavanyo lwe-genetic:Oku kuya kuqinisekisa ukuba kukho naluphi na utshintsho kwiijini endizikhankanyileyo ngaphambili.

Ngale ndlela, kusenokufuneka ubone oogqirha abaninzi kwaye wenze iimvavanyo ezininzi ukuze uxilonge ngokuchanekileyo imeko yomntwana wakho. Kodwa khumbula, zonke iimvavanyo zenzelwe ukuthintela ezinye iimeko ezineempawu ezifanayo kwaye zikuncede ufumane unyango olufanelekileyo kumntwana wakho.

Isifo seLafora sinyangwa njani?

Enyanisweni, akukho nyango lwesifo seLafora okwangoku . Unyango lwangoku lujolise kakhulu ekulawuleni iimpawu. Ezi zingabandakanya:

• Amayeza okuthintela ukuxhuzula ukuze kulawulwe ukuqala kokuxhuzula.
• Ingakumbi xa umntu enesifo sokuxhuzula esibizwa ngokuba yi-myoclonic seirs, amayeza anjenge -valproic acid, i-perampanel, okanye i-benzodiazepines anokunikwa.
• Unyango lomzimba okanye unyango lomsebenzi lunokunceda ukugcina amandla emisipha ixesha elide kangangoko kunokwenzeka.

Njengoko iimpawu zisiba mandundu, kuba nzima ukuzilawula. Kodwa iqela lezonyango elinyanga umntwana wakho liza kwenza konke okusemandleni alo ukwenza umntwana wakho azive ekhululekile kangangoko.

Iyintoni imbonakalo yesifo seLafora?

Inyaniso kukuba, ikamva lesifo iLafora alikho lihle kangako. Oko kukuthi, umntwana angafa ngokukhawuleza ngenxa yesi sifo. Njengoko bekutshiwo ngaphambili, akukho nyango lwaso okwangoku.

Xa umntwana wakho efunyenwe ene-Lafora syndrome, kungcono ukubona umcebisi wezemfuza . Angakuxelela okungakumbi ngale meko, indlela echaphazela ngayo umntwana wakho, aze akunike iingcebiso malunga nendlela yokunyamekela umntwana wakho kunye nendawo yokufumana inkxaso efanelekileyo kusapho lwakho.

Iintsapho ezininzi zikwafumana iingcebiso ngempilo yengqondo ziluncedo kakhulu. Kuba isifo saseLafora sinokukhawuleza sibe nzima. Ukubona umntwana wakho ehlushwa ziimpawu, kwaye ebona izinto ebezisebenza kakuhle ziphela kancinci kancinci, kunzima kakhulu kubazali ukuzinyamezela. Oku kunokuba nefuthe elikhulu kwimpilo yakho yengqondo. Ke ngoko, kubaluleke kakhulu ukuzinyamekela wena kunye nosapho lwakho ngeli xesha linzima.

Ingakanani iminyaka yobomi bomntu onesifo seLafora?

Umyinge wobomi bomntwana onesifo seLafora umalunga neminyaka eli-10 emva kokuba iimpawu ziqalile. Abantwana abaninzi baphila baze babe ngabantu abadala.

Ngaba isifo seLafora singathintelwa?

Akukho ndlela eyaziwayo yokuthintela isifo seLafora. Nangona kunjalo, ukuba uceba ukuqala usapho, ungathetha nogqirha wakho malunga novavanyo lwemfuza ukuze ufumane umngcipheko wokuba nomntwana onesifo esizuzwe njengelifa.

Ndifanele ndimse nini umntwana wam kugqirha?

Yomntwana wakhoUkuba unesithuthwane okokuqala ebomini bakho, fowunela iinkonzo zongxamiseko ngoko nangoko. Kubaluleke kakhulu.

Kwakhona, xelela ugqirha ukuba umntwana wakho unenye yezi zinto:

• Ukuba kukho naluphi na utshintsho kwindlela yokuziphatha okanye kwimo yengqondo .
• Ukuba unengxaki yokulinganisela okanye ukulungelelanisa umzimba xa uhamba .
• Ukuba kubonakala kunzima ukuthetha .
• Ukuba uziva uxhalabile ngalo lonke ixesha kwaye unobunzima bokuqonda umsebenzi wesikolo .

Yeyiphi imibuzo endifanele ndiyibuze ugqirha womntwana wam?

Ungabuza imibuzo efana nale:

• 'Gqirha, ndingamnceda njani umntwana wam?'
• 'Ucebisa uhlobo luni lonyango?'
• 'Zeziphi ezinye iimpawu ekufanele ndizijonge?'
• 'Ingaba ubomi bomntwana wam buza kuba njani?'
• 'Ngaba kukho naziphi na iimvavanyo ezintsha zeklinikhi zesi sifo?'

Ukubona umntwana wakho enesithuthwane sokuqala, uze emva koko, kube ngamava othusayo. Usenokuziva ungenakunceda, okanye ngathi ulinde ixesha ukuba litshone de iimpawu zeLafora zimfumane umntwana wakho. ILafora yimeko ebuhlungu kakhulu. Kodwa akufuneki uhambe wedwa kolu hambo. Iqela lezonyango elinyanga umntwana wakho likhona ukukunceda. Liza kuzama ukunika umntwana wakho yonke into ayidingayo kwaye limgcine ekhululekile.

Kwakhona, iqela lezonyango lomntwana wakho linokukunceda wena kunye nosapho lwakho lonke ngeli xesha linzima. Ungafumana kuluncedo ukuthetha nomcebisi wezempilo yengqondo okanye ujoyine iqela lenkxaso nabanye abaye badlula kumava afanayo. Khumbula, unyango olutsha noluphuculiweyo ludla ngokuthetha ukuba abanye abantwana baphila ixesha elide kunokuba bebelindele. Ngoko ke, ungaze ulahle ithemba.

Umyalezo Wokugqibela Wokuya Ekhaya

Isifo iLafora sisifo esinzima kakhulu nesingaqhelekanga. Kuqhelekile ukuba uzive uxinezelekile kwaye ulusizi xa usiva into efana nale. Nangona kunjalo, eyona nto ibalulekileyo kukwazi ukuba awuwedwa. Kukho abantu abanokubonelela ngonyango olufanelekileyo kumntwana wakho kwaye bakuncede wena nosapho lwakho nidlule kweli xesha linzima. Hlala unolwazi malunga nophando olutsha kunye nonyango olutsha. Soloko unethemba. Kwakhona, ungalibali ukunyamekela impilo yakho yengqondo ngeli xesha lohambo. Okukhona unamandla, kokukhona umntwana wakho uya kuba ngcono.

Isifo seLafora , iMigraine, ukuqina komzimba, ukuxhuzula, izifo zemfuza, izifo zabantwana, izifo zemithambo-luvo, i-EPM2A, i-EPM2B, imizimba yeLafora, imizimba yeLafora