Ake sifunde ngesifo iLafora. Ingabe ingane yakho inalezi zimpawu?

Ingabe ingane yakho ibonakala iguquguquka njalo? Noma ingabe inenkinga yokugxila emsebenzini wesikole? Mhlawumbe iphawulile ushintsho enkulumweni noma ekuziphatheni kwayo? Lezi yizinto ngezinye izikhathi esingazinaki kakhulu, kodwa zingaba izimpawu zesimo esingavamile esibizwa ngokuthi iLafora Disease. Ngakho ake sixoxe ngalokhu kancane namuhla, akunjalo?

Iyini Isifo Se-Lafora?

Kalula nje, isifo iLafora siwuhlobo lwesifo sokuwa. Sibonakala ngokuxhuzula njalo (ukuxhuzula) kanye nokwehla kancane kancane kwekhono lengane lokucabanga, ukukhumbula, nokuqonda izinto (umsebenzi wokuqonda). Ungase uzwe nodokotela esibiza ngokuthi 'iLafora progressive myoclonus epilepsy'. Lelo igama eliphelele lezokwelapha laso.

Lezi zimpawu zivame ukuqala ebuntwaneni, cishe eminyakeni eyisishiyagalombili, noma ebudaleni bokuqala. Into edabukisayo ukuthi lezi zimpawu zivame ukuba zimbi kakhulu ngokuhamba kwesikhathi. Ngisho noma ukwelashwa, isifo seLafora singadala izinkinga ezisongela impilo zingakapheli iminyaka eyi-10. Kodwa-ke, ngocwaningo olusha kanye nokwelashwa okuthuthukisiwe, ezinye izingane ziphila isikhathi eside kunokulindelekile. Ngakho ungalilahli ithemba.

Ingabe lesi sifo seLafora sithinta abantu abaningi?

Yebo, lesi yisifo esingavamile kakhulu . Izifundo ezenziwe emhlabeni wonke zisikisela ukuthi cishe abantu abane esigidini bahlakulela lesi sifo minyaka yonke. Kodwa-ke, leli nani lingase libe phezulu. Lokhu kungenxa yokuthi abanye abantu abaxilongwa kahle noma lesi sifo asibikwa, ngakho-ke la manani angase abonakale ephansi.

Ziyini izimpawu zesifo seLafora?

Ingane enesifo iLafora ingase ibe nesinye noma ngaphezulu kwalezi zimpawu ezilandelayo:

• Ukuquleka: Lolu uphawu oluyinhloko.
• Ukwehla kokuqonda: Ingane ingase ingakwazi ukuqonda izifundo futhi ingase ikuthole kunzima ukufunda izinto ezintsha.
• Ubunzima bokukhuluma: Ukungakhulumi kahle kwamagama kanye nokunciphisa ijubane lokukhuluma kungase kwenzeke.
• Ukulahlekelwa ibhalansi, njengokuzamazama ngenkathi uhamba (izinselele zokulinganisela nokuxhumana): Ngokukhethekile, kungaba nzima ukuhamba emgqeni oqondile, njengokwenza amaphutha lapho ubamba izinto.
• Ukuqina kwemisipha (ukuqaqamba): Kuba nzima ukugoba noma ukuqondisa izitho, futhi umzimba uzizwa uqinile.
• Izinguquko zokuziphatha: Ungase ube nenkani kakhulu kunangaphambili, noma ungase uthukuthele nje.
• Ukushintshashintsha kwemizwa: Ngezinye izikhathi, izimo ezifana nokucindezeleka zingaba khona, okusho ukuthi uzizwa udangele ngaso sonke isikhathi, ungenasithakazelo kunoma yini. Noma ungahlakulela ukunganaki.
• Ukulahlekelwa yinkumbulo kanye nezimo ezifana ne-dementia: Ukhohlwa ngisho nezinto ezincane kakhulu, futhi ngokuhamba kwesikhathi, ungase ungakhumbuli nokuthi ungubani noma ukuthi ukuphi.

Izinhlobo zokuxhuzula ezibonakala kwisifo seLafora

Ingane yakho ingase ibe nezinhlobo ezahlukene zokuguliswa yi-Lafora syndrome. Ake sibheke ukuthi ziyini:

• Ukuquleka kwemisipha okubangelwa yi-myoclonic: Lokhu kuquleka kwemisipha okusheshayo, okungazelelwe, okungazikhetheli. Kungaba okufushane, njengokushaqeka kukagesi. Lolu hlobo lokuquleka luvame ukubonakala kakhulu kwisifo i-Lafora.
• Ukuwa kwe-Occipital: Lokhu kungabangela ukulahlekelwa umbono ngokuzumayo, noma ukubona izinto ezingekho.
• Ukuquleka kwe-Tonic-clonic: Yilokhu abantu abaningi abakubiza ngokuthi "ukuquleka." Imisipha emzimbeni iba lukhuni futhi iqine.
• Ukuquleka kokungabikho: Kulokhu, ingane iyeka ukwenza okuthile ngokuzumayo bese ibheka nje esikhaleni. Iphinde ithole ulwazi ngemizuzwana embalwa.
• Ukuwa okungaphelele okuyinkimbinkimbi: Lokhu kungase kuhlanganise nokubuka nje, ukunyakazisa izitho ngaphandle kwenhloso, noma ukwenza into efanayo ngokuphindaphindiwe.
• Ukuquleka kwe-Atonic: Lokhu kwenzeka lapho imisipha emzimbeni ilahlekelwa amandla ngokuzumayo, okubangela ukuba ingane iwele phansi.

Lokhu kukhubazeka kuba kubi kakhulu njengoba lesi sifo siqhubeka futhi siba sivame kakhulu. Nakuba odokotela bengakwazi ukukulawula ezigabeni zokuqala, kuba nzima kakhulu ngokuhamba kwesikhathi.

Indlela izimpawu zeLafora ezikhula ngayo kancane kancane

Izimpawu zesifo iLafora ziya ziba zimbi kakhulu ngokuhamba kwesikhathi. Lokhu kungahlala kusukela ezinyangeni ezimbalwa kuya eminyakeni embalwa. Ekuqaleni, lezi zimpawu ziqala njengeziphazamiso ezincane, kodwa kancane kancane zinciphisa ikhono lengane lokwenza imisebenzi yansuku zonke nokuxhumana nabanye.

Cabanga nje, eminyakeni engaba yisithupha ngemva kokutholwa ukuthi unesifo i-Lafora, cishe ingxenye yeziguli ilahlekelwa ukulawula ukunyakaza kwayo . Ingane yakho ingase ingakwazi ukuhamba, ukukhuluma, noma ukuhlala yodwa. Ngesinye isikhathi, ingadinga ukunakekelwa amahora angama-24 ukuze ihlale ikhululekile. Lokhu kuyadabukisa ukuzwa, kodwa kubalulekile ukwazi lezi zinto.

Ziqala nini izimpawu zeLafora?

Izimpawu ze-Lafora zivame ukuqala phakathi kweminyaka engu-8 no-19. Zivame kakhulu phakathi kweminyaka engu-14 no-16. Kodwa-ke, ngezinye izikhathi lesi sifo singathinta izingane ezineminyaka engu-5 ubudala.

Iyini imbangela yalesi sifo seLafora?

Imbangela eyinhloko yesifo seLafora ukuguquka kwezakhi zofuzo.. Ukuze kube sobala, lesi sifo sibangelwa ukuguquka kwezakhi zofuzo `EPM2A` noma `EPM2B (NHLRC1)`. Lokhu kwenzeka kanje: Lapho umntwana ekhulelwa, ingane kumele ithole ikhophi eyodwa yalesi sakhi sofuzo esiguquliwe kumama nakubaba. Ngokwezokwelapha, lokhu kubizwa ngokuthi ifa elithi `autosomal recessive` .

Lezi zakhi zofuzo, ezibizwa ngokuthi `EPM2A` noma `EPM2B`, zinesibopho sokucubungula kahle into ebizwa ngokuthi i-glycogen egcina amandla emzimbeni wethu. Manje, lapho lezi zakhi zofuzo zishintsha, imiyalelo yokucubungula kahle i-glycogen iyadideka. Okwenzekayo-ke ukuthi le glycogen ayisetshenziswa kahle, bese kwakheka izigaxa ezincane (ezibizwa ngokuthi imizimba ye-Lafora) . Lezi zimizimba ze-Lafora zifakwa emaseli esimiso sethu sezinzwa, imisipha, izitho zangaphakathi, kanye nezicubu. Khona-ke uhlelo lwethu lwezinzwa nezinye izitho lapho lezi zimizimba ze-Lafora zifakwa khona azikwazi ukusebenza kahle. Yileso isizathu sezimpawu zesifo se-Lafora. Uyaqonda?

Ubani osengozini enkulu yokuthola isifo se-Lafora?

Noma ubani angangenwa yisifo i-Lafora, kodwa sivame kakhulu kubantu abahlala emazweni azungeze isifunda saseMedithera (njengeSpain, iFrance, ne-Italy), emazweni aseNyakatho Afrika, eNdiya nasePakistan .

Yiziphi izinkinga ezingaba khona zesifo seLafora?

Isifo se-Lafora singadala isimo esibizwa ngokuthi 'status epilepticus', okuyisimo lapho ukuxhuzula kuqhubeka khona imizuzu engaphezu kwengu-15 ngesikhathi, noma lapho ukuxhuzula kuphela bese kulandelwa okunye ukuxhuzula ngaphambi kokuba ingqondo ibuye iqonde. Lesi yisimo esiphuthumayo sezokwelapha esisongela ukuphila.

Uma isifo seLafora siba sibi kakhulu, imizimba yeLafora engikhulume ngayo ekuqaleni iyanqwabelana emzimbeni, okubangela ukuba izingxenye zomzimba wengane zingasebenzi kahle, ngezinye izikhathi zivimbele ngokuphelele. Lesi yisona sizathu sokufa okusheshayo ngenxa yalesi sifo.

Isifo seLafora sitholakala kanjani?

Ngokuvamile, lapho ingane iqala ukuba nesithuthwane, abazali noma abanakekeli bazobona udokotela. Udokotela uzokwenza ukuhlolwa ngokomzimba, ukuhlolwa kwezinzwa, bese ebuza ngezimpawu zengane yakho kanye nomlando wezokwelapha.

Ngemuva kwalokho, bazo-oda izivivinyo eziningana ukuthola imbangela yangempela yalezi zimpawu. Lezi zivivinyo zingafaka:

• I-EEG (i-Electroencephalogram - i-EEG): Lokhu kulinganisa umsebenzi kagesi wobuchopho.
• I-MRI (I-Magnetic Resonance Imaging - I-MRI): Lokhu kuthatha isithombe esiningiliziwe sobuchopho.
• I-biopsy yesikhumba: Ngezinye izikhathi kuthathwa ingxenye encane yesikhumba bese kuhlolwa izidumbu ze-Lafora.
• Ukuhlolwa kofuzo:Lokhu kuzoqinisekisa ukuthi kukhona yini izinguquko ezakhiweni zofuzo engizikhulumile ekuqaleni.

Ngale ndlela, kungadingeka ukuthi ubonane nodokotela abaningana bese wenza izivivinyo eziningana ukuze uhlole ngokunembile isimo sengane yakho. Kodwa khumbula, zonke izivivinyo zenzelwe ukuqeda ezinye izimo ezinezimpawu ezifanayo futhi zikusize uthole ukwelashwa okufanele kwengane yakho.

Isifo seLafora selashwa kanjani?

Eqinisweni, alikho ikhambi lesifo iLafora okwamanje . Izindlela zokwelapha zamanje zihloselwe kakhulu ukulawula izimpawu. Lokhu kungafaka:

• Imithi yokuvimbela ukuquleka ukuze ulawule ukuqala kokuquleka.
• Ikakhulukazi uma umuntu enesifo sokuwa esibangelwa yi-myoclonic, imithi efana ne -valproic acid, i-perampanel, noma i-benzodiazepines inganikezwa.
• Ukwelashwa ngokomzimba noma ukwelashwa ngokomsebenzi kungasiza ekugcineni amandla emisipha isikhathi eside ngangokunokwenzeka.

Njengoba izimpawu ziba zimbi kakhulu, kuba nzima ukuzilawula. Kodwa ithimba lezokwelapha elilapha ingane yakho lizokwenza konke okusemandleni alo ukwenza ingane yakho ikhululeke ngangokunokwenzeka.

Iyini inhloso yesifo iLafora?

Uma ngikhuluma iqiniso, umbono wesifo iLafora awumuhle neze. Okusho ukuthi, ingane ingafa ngokushesha ngenxa yalesi sifo. Njengoba kushiwo ngaphambili, alikho ikhambi lalesi sifo okwamanje.

Uma ingane yakho isitholakale ine-Lafora syndrome, kuwumqondo omuhle ukubona umeluleki wezakhi zofuzo . Angakutshela okwengeziwe ngalesi simo, ukuthi sithinta kanjani ingane yakho, futhi akunike iseluleko sendlela yokunakekela ingane yakho nokuthi ungayitholaphi ukwesekwa okufanele umndeni wakho.

Imindeni eminingi ithola nokwelulekwa ngempilo yengqondo kuwusizo olukhulu. Ngoba isifo iLafora singaba sibi kakhulu ngokushesha. Ukubona ingane yakho ihlushwa izimpawu, nokubona izinto ezazisebenza kahle ziphela kancane kancane, kunzima kakhulu kubazali ukuzibekezelela. Lokhu kungaba nomthelela omkhulu empilweni yakho yengqondo. Ngakho-ke, kubaluleke kakhulu ukuzinakekela wena kanye nomndeni wakho phakathi nalesi sikhathi esinzima.

Ingakanani iminyaka yokuphila yomuntu onesifo i-Lafora?

Isilinganiso sokuphila kwengane enesifo iLafora siyiminyaka engaba yi-10 ngemva kokuqala kwezimpawu. Izingane eziningi ziphila zize zibe ngabantu abadala.

Ingabe isifo seLafora singavinjelwa?

Ayikho indlela eyaziwayo yokuvimbela isifo seLafora. Kodwa-ke, uma uhlela ukuqala umndeni, ungakhuluma nodokotela wakho mayelana nokuhlolwa kofuzo ukuze uthole ingozi yakho yokuba nengane enesifo esizuzwe njengefa.

Kufanele ngiyise nini ingane yami kudokotela?

Okwengane yakhoUma unesifo sokuwa okokuqala empilweni yakho, shayela izinsizakalo eziphuthumayo ngokushesha. Kubaluleke kakhulu.

Futhi, tshela udokotela uma ingane yakho inanoma yiziphi zalezi zinto:

• Uma kukhona izinguquko ekuziphatheni noma emizweni .
• Uma unezinkinga ngokulinganisela noma ukuhambisana komzimba ngenkathi uhamba .
• Uma kubonakala kunzima ukukhuluma .
• Uma uzizwa ukhathazekile ngaso sonke isikhathi futhi unenkinga yokuqonda umsebenzi wesikole .

Yimiphi imibuzo okufanele ngiyibuze udokotela wengane yami?

Ungabuza imibuzo efana nale:

• 'Dokotela, ngingamsiza kanjani ingane yami?'
• 'Uncoma uhlobo luni lokwelashwa?'
• 'Yiziphi ezinye izimpawu okufanele ngiziqaphele?'
• 'Impilo yengane yami izoba njani?'
• 'Ingabe kukhona izivivinyo ezintsha zokwelapha zalesi sifo?'

Ukubona ingane yakho ihlushwa yisifo sokuwa kokuqala, bese kuthi njalo ngemva kwalokho, kube yinto eyesabekayo. Ungase uzizwe ungenalusizo, noma sengathi ulinde iwashi ukuthi lishaye kuze kube yilapho izimpawu ze-Lafora zithinta ingane yakho. I-Lafora iyisimo esidabukisayo kakhulu. Kodwa akudingeki ukuthi udlule kulolu hambo wedwa. Ithimba lezokwelapha elilapha ingane yakho likhona ukukusiza. Lizozama ukunikeza ingane yakho konke ekudingayo futhi liyigcine ikhululekile.

Futhi, ithimba lezokwelapha lengane yakho lingakusiza wena nomndeni wakho wonke phakathi nalesi sikhathi esinzima. Ungase ukuthole kuwusizo ukukhuluma nomeluleki wezempilo yengqondo noma ujoyine iqembu lokusekelana nabanye abaye badlula kokuhlangenwe nakho okufanayo. Khumbula, ukwelashwa okusha nokuthuthukisiwe kuvame ukusho ukuthi ezinye izingane ziphila isikhathi eside kunalokho ebezikulindele. Ngakho-ke, ungalokothi ulahle ithemba.

Umyalezo Wokugcina Wokuya Nasekhaya

Isifo iLafora siyisimo esiyinselele kakhulu futhi esingavamile. Kuvamile ukuzizwa ukhungathekile futhi udabuke uma uzwa into efana nale. Kodwa-ke, into ebaluleke kakhulu ukwazi ukuthi awuwedwa. Kukhona abantu abanganikeza ingane yakho ukunakekelwa kwezokwelapha okungcono kakhulu futhi bakusize wena nomndeni wakho nidlule kulesi sikhathi esinzima. Hlala unolwazi ngocwaningo olusha kanye nokwelashwa okusha. Hlala unethemba. Futhi, ungakhohlwa ukunakekela impilo yakho yengqondo phakathi nalolu hambo. Uma unamandla, ingane yakho izoba ngcono.

Isifo seLafora , i-Migraine, ukuqina komzimba, ukuquleka, izifo zofuzo, izifo zezingane, izifo zemizwa, i-EPM2A, i-EPM2B, imizimba yeLafora, imizimba yeLafora