Tiyeni tiphunzire za matenda a Lafora. Kodi mwana wanu ali ndi zizindikiro izi?

Kodi mwana wanu akuoneka kuti akusinthasintha nthawi zonse? Kapena akuvutika kuganizira kwambiri za ntchito ya kusukulu? Mwina waona kusintha kwa kalankhulidwe kapena khalidwe lake? Izi ndi zinthu zomwe nthawi zina sitimaziganizira kwambiri, koma zitha kukhala zizindikiro za matenda osowa otchedwa Lafora Disease. Tiyeni tikambirane pang'ono za izi lero, sichoncho?

Kodi Matenda a Lafora ndi chiyani?

Mwachidule, matenda a Lafora ndi mtundu wa khunyu. Amadziwika ndi kukomoka pafupipafupi (kugwidwa) komanso kuchepa pang'onopang'ono kwa luso la mwana loganiza, kukumbukira, ndi kumvetsetsa zinthu (ntchito yozindikira). Mungamvenso dokotala akutcha 'Lafora progressive myoclonus epilepsy'. Dzina lonse la matendawa ndi lachipatala.

Zizindikiro zimenezi nthawi zambiri zimayamba ali mwana, ali ndi zaka pafupifupi zisanu ndi zitatu, kapena ali mwana. Chomvetsa chisoni n'chakuti, zizindikiro zimenezi zimakula kwambiri pakapita nthawi. Ngakhale mutalandira chithandizo, matenda a Lafora angayambitse mavuto oopsa mkati mwa zaka 10. Komabe, ndi kafukufuku watsopano ndi mankhwala abwino, ana ena amakhala ndi moyo wautali kuposa momwe amayembekezera. Choncho musataye mtima.

Kodi matenda a Lafora awa amakhudza anthu ambiri?

Inde, uwu ndi matenda osowa kwambiri . Kafukufuku wochitidwa padziko lonse lapansi akusonyeza kuti anthu pafupifupi anayi pa anthu miliyoni amadwala matendawa chaka chilichonse. Komabe, chiwerengerochi chikhoza kukhala chokwera. Izi zili choncho chifukwa anthu ena sapezeka ndi matendawa moyenera kapena matendawa sananenedwe, kotero ziwerengerozi zingawoneke ngati zochepa.

Kodi zizindikiro za matenda a Lafora ndi ziti?

Mwana amene ali ndi matenda a Lafora akhoza kukhala ndi chimodzi mwa zizindikiro zotsatirazi:

• Kugwidwa ndi khunyu: Ichi ndiye chizindikiro chachikulu.
• Kulephera kwa nzeru: Mwanayo sangamvetse bwino maphunziro ndipo angavutike kuphunzira zinthu zatsopano.
• Kuvuta kulankhula: Kusalankhula bwino komanso kuchepetsa kulankhula kungachitike.
• Kutaya kulinganiza bwino zinthu, monga kugwedezeka pamene mukuyenda (mavuto a kulinganiza bwino zinthu ndi kugwirizana): Makamaka, zingakhale zovuta kuyenda molunjika, monga kulakwitsa pogwira zinthu.
• Kuuma kwa minofu (kupindika): Zimakhala zovuta kupindika kapena kuwongola miyendo, ndipo thupi limakhala lolimba.
• Kusintha kwa khalidwe: Mungakhale ouma mtima kwambiri kuposa kale, kapena mungakwiye.
• Kusintha kwa maganizo: Nthawi zina, zinthu ngati kuvutika maganizo zimatha kuchitika, zomwe zikutanthauza kuti mumakhala achisoni nthawi zonse, opanda chidwi ndi chilichonse. Kapena mutha kukhala ndi mphwayi.
• Kutaya kukumbukira ndi matenda monga matenda a dementia: Umaiwala ngakhale zinthu zazing'ono, ndipo pakapita nthawi, sungathe kukumbukira kuti ndiwe ndani kapena kuti uli kuti.

Mitundu ya khunyu yomwe imapezeka mu matenda a Lafora

Mwana wanu akhoza kukhala ndi mitundu yosiyanasiyana ya matenda a Lafora. Tiyeni tiwone zomwe ali:

• Kugwidwa ndi matenda a myoclonic: Izi zimachitika mofulumira kwambiri, mwadzidzidzi, komanso popanda chifukwa. Zitha kuchitika kwakanthawi, ngati kugwedezeka kwa magetsi. Mtundu uwu wa kugwidwa umapezeka kwambiri mu matenda a Lafora.
• Kukomoka kwa m'maso: Izi zingayambitse kutayika kwa maso mwadzidzidzi, kapena kuona zinthu molakwika.
• Matenda a khunyu ndi khunyu: Izi ndi zomwe anthu ambiri amazitcha kuti "khunyu." Minofu m'thupi imakhala yolimba komanso yogwedezeka.
• Kukomoka: Pamenepa, mwanayo mwadzidzidzi amasiya kuchita china chake ndipo amangoyang'ana mlengalenga. Amapezanso chidziwitso pakangopita masekondi ochepa.
• Kugwidwa ndi khunyu kosakwanira: Izi zingaphatikizepo kuyang'ana mopanda kanthu, kugwedeza miyendo popanda cholinga, kapena kuchita zomwezo mobwerezabwereza.
• Kukomoka kwa thupi: Apa ndi pamene minofu ya thupi imataya mphamvu mwadzidzidzi, zomwe zimapangitsa kuti mwana agwe pansi.

Matendawa amakula kwambiri pamene matendawa akukulirakulira ndipo amachulukirachulukira. Ngakhale kuti madokotala amatha kuwaletsa akangoyamba kumene, zimakhala zovuta pakapita nthawi.

Momwe zizindikiro za Lafora zimakulirakulira pang'onopang'ono

Zizindikiro za matenda a Lafora zimakula pakapita nthawi. Izi zimatha kukhala miyezi ingapo mpaka zaka zingapo. Poyamba, zizindikirozi zimayamba ngati zokhumudwitsa zazing'ono, koma pang'onopang'ono zimachepetsa mphamvu ya mwana yogwira ntchito za tsiku ndi tsiku komanso kuyanjana ndi ena.

Tangoganizirani, patatha zaka zisanu ndi chimodzi kuchokera pamene anapezeka ndi matenda a Lafora, pafupifupi theka la odwala amalephera kulamulira mayendedwe awo . Mwana wanu sangathe kuyenda, kulankhula, kapena kukhala yekha. Nthawi ina, angafunike chisamaliro cha maola 24 kuti akhale omasuka. Izi n'zomvetsa chisoni kumva, koma ndikofunikira kudziwa zinthu izi.

Kodi zizindikiro za Lafora zimayamba liti?

Zizindikiro za Lafora nthawi zambiri zimayamba pakati pa zaka 8 ndi 19. Zimapezeka kwambiri pakati pa zaka 14 ndi 16. Komabe, nthawi zina matendawa amatha kukhudza ana azaka 5.

Kodi chifukwa cha matenda a Lafora ndi chiyani?

Chifukwa chachikulu cha matenda a Lafora ndi kusintha kwa majini.Kunena zoona, matendawa amayamba chifukwa cha kusintha kwa majini `EPM2A` kapena `EPM2B (NHLRC1)`. Izi zimachitika motere: Mwana akatenga pakati, mwanayo ayenera kulandira kopi imodzi ya majini osinthika awa kuchokera kwa mayi ndi bambo. M'mawu azachipatala, izi zimatchedwa `autosomal recessive` cholowa .

Majini awa, otchedwa `EPM2A` kapena `EPM2B`, ali ndi udindo wokonza bwino chinthu chotchedwa glycogen chomwe chimasunga mphamvu m'thupi lathu. Tsopano, majini awa akasintha, malangizo okonza bwino glycogen amasokonezeka. Chomwe chimachitika ndichakuti glycogen iyi sigwiritsidwa ntchito bwino, ndipo timabowo tating'onoting'ono (totchedwa matupi a Lafora) timapangika. Matupi a Lafora awa amaikidwa m'maselo a dongosolo lathu la mitsempha, minofu, ziwalo zamkati, ndi minofu. Kenako dongosolo lathu la mitsempha ndi ziwalo zina zomwe matupi a Lafora awa amaikidwa sizingagwire ntchito bwino. Ndicho chifukwa chake zizindikiro za matenda a Lafora. Kodi mukumvetsa?

Ndani ali pachiwopsezo chachikulu chotenga matenda a Lafora?

Aliyense akhoza kutenga matenda a Lafora, koma amapezeka kwambiri mwa anthu okhala m'maiko ozungulira dera la Mediterranean (monga Spain, France, ndi Italy), mayiko a kumpoto kwa Africa, India, ndi Pakistan .

Kodi ndi mavuto otani omwe amabwera chifukwa cha matenda a Lafora?

Matenda a Lafora angayambitse matenda otchedwa 'status epilepticus', omwe ndi matenda omwe amapitirira kwa mphindi zoposa 15 nthawi imodzi, kapena pamene khunyu imatha kenako n’kutsatiridwa ndi khunyu ina asanadziwenso. Uwu ndi vuto lachipatala lomwe lingayambitse imfa.

Matenda a Lafora akakula kwambiri, matupi a Lafora omwe ndatchula kale amasonkhana m'thupi, zomwe zimapangitsa kuti ziwalo za thupi la mwana zisagwire bwino ntchito, nthawi zina zimaziletsa kwathunthu. Ichi ndi chifukwa cha imfa yachangu chifukwa cha matendawa.

Kodi matenda a Lafora amawapeza bwanji?

Kawirikawiri, mwana akayamba kudwala khunyu, makolo kapena omulera amaonana ndi dokotala. Dokotalayo amamuyeza thupi, amamuyeza ubongo, ndipo amamufunsa za zizindikiro za mwana wanu komanso mbiri yake ya matenda.

Kenako, adzayitanitsa mayeso angapo kuti adziwe chomwe chimayambitsa zizindikirozi. Mayesowa angaphatikizepo:

• EEG (Electroencephalogram - EEG): Iyi imayesa ntchito yamagetsi ya ubongo.
• MRI (Maginito Owonetsa Maginito - MRI): Izi zimatenga chithunzi chatsatanetsatane cha ubongo.
• Kujambula khungu: Nthawi zina khungu laling'ono limatengedwa ndikuyang'aniridwa ngati lili ndi matupi a Lafora.
• Kuyesa majini:Izi zitsimikizira ngati pali kusintha kulikonse mu majini omwe ndatchula kale.

Mwanjira imeneyi, mungafunike kuonana ndi madokotala angapo ndikuyesa mayeso angapo kuti mudziwe bwino vuto la mwana wanu. Koma kumbukirani kuti mayeso onse amapangidwira kuti athetse matenda ena omwe ali ndi zizindikiro zofanana ndikukuthandizani kupeza chithandizo choyenera cha mwana wanu.

Kodi matenda a Lafora amachiritsidwa bwanji?

Ndipotu, palibe mankhwala a matenda a Lafora pakadali pano . Mankhwala omwe alipo panopa cholinga chake chachikulu ndi kuchepetsa zizindikiro. Izi zingaphatikizepo:

• Mankhwala oletsa kugunda kwa mtima kuti achepetse kuyambika kwa kugunda kwa mtima.
• Makamaka pa matenda a khunyu a myoclonic, mankhwala monga valproic acid, perampanel, kapena benzodiazepines angaperekedwe.
• Kuchiza thupi kapena chithandizo cha ntchito kungathandize kusunga mphamvu za minofu kwa nthawi yayitali.

Zizindikiro zikamakula, zimakhala zovuta kuzilamulira. Koma gulu lachipatala lomwe limathandiza mwana wanu lidzachita zonse zomwe angathe kuti mwana wanu akhale womasuka momwe angathere.

Kodi chiyembekezo cha matenda a Lafora ndi chiyani?

Kunena zoona, chiyembekezo cha matenda a Lafora si chabwino kwenikweni. Izi zikutanthauza kuti, mwana akhoza kufa msanga chifukwa cha matendawa. Monga tanenera kale, palibe mankhwala a matendawa pakadali pano.

Mwana wanu akapezeka ndi Lafora syndrome, ndi bwino kuonana ndi mlangizi wa majini . Iye angakuuzeni zambiri za vutoli, momwe limakhudzira mwana wanu, komanso kukupatsani upangiri wa momwe mungasamalire mwana wanu komanso komwe mungapeze thandizo loyenera banja lanu.

Mabanja ambiri amaonanso kuti uphungu wa zaumoyo wamaganizo ndi wothandiza kwambiri. Chifukwa matenda a Lafora amatha kukula msanga. Kuona mwana wanu akuvutika ndi zizindikiro, ndikuwona zinthu zomwe kale zinkayenda bwino zikutha pang'onopang'ono, n'kovuta kwambiri kwa makolo kupirira. Izi zitha kukhudza kwambiri thanzi lanu la maganizo. Chifukwa chake, ndikofunikira kwambiri kudzisamalira nokha komanso banja lanu panthawi yovutayi.

Kodi munthu amene ali ndi matenda a Lafora amakhala ndi moyo wautali bwanji?

Mwana amene ali ndi matenda a Lafora amakhala ndi moyo zaka 10 kuchokera pamene zizindikiro zayamba. Ana ambiri amakhalabe ndi moyo mpaka atakula.

Kodi matenda a Lafora angapewedwe?

Palibe njira yodziwika bwino yopewera matenda a Lafora. Komabe, ngati mukukonzekera kuyambitsa banja, mutha kulankhula ndi dokotala wanu za kuyezetsa majini kuti mudziwe chiopsezo chanu chokhala ndi mwana ndi matendawa obadwa nawo.

Kodi ndiyenera kupita ndi mwana wanga kwa dokotala liti?

Kwa mwana wanuNgati mwagwidwa ndi khunyu koyamba m'moyo wanu, imbani ogwira ntchito zadzidzidzi nthawi yomweyo. Ndikofunikira kwambiri.

Komanso, uzani dokotala ngati mwana wanu ali ndi chilichonse mwa zinthu izi:

• Ngati pali kusintha kulikonse mu khalidwe kapena momwe munthu akumvera .
• Ngati muli ndi vuto la kulinganiza bwino kapena kugwirizana bwino mukuyenda .
• Ngati zikuoneka zovuta kulankhula .
• Ngati nthawi zonse mumakhala ndi nkhawa ndipo mukuvutika kumvetsa ntchito ya kusukulu .

Ndi mafunso ati omwe ndiyenera kufunsa dokotala wa mwana wanga?

Mungathe kufunsa mafunso monga awa:

• 'Dokotala, ndingathandize bwanji mwana wanga?'
• 'Mukulangiza chithandizo chamtundu wanji?'
• 'Ndi zizindikiro zina ziti zomwe ndiyenera kuyang'anitsitsa?'
• 'Kodi moyo wa mwana wanga udzakhala wotani?'
• 'Kodi pali mayeso atsopano azachipatala okhudza matendawa?'

Kuona mwana wanu akugwidwa ndi khunyu koyamba, kenako nthawi iliyonse pambuyo pake, kungakhale koopsa. Mungamve ngati mulibe chochita, kapena ngati mukungoyembekezera kuti nthawi ifike mpaka zizindikiro za Lafora zitamugwira mwana wanu. Lafora ndi vuto lomvetsa chisoni kwambiri. Koma simuyenera kudutsa ulendowu nokha. Gulu lachipatala lomwe limathandiza mwana wanu lilipo kuti likuthandizeni. Adzayesa kupatsa mwana wanu zonse zomwe akufuna ndikumusunga bwino.

Komanso, gulu lachipatala la mwana wanu lingakuthandizeni inu ndi banja lanu lonse panthawi yovutayi. Mungaone kuti n'kothandiza kulankhula ndi mlangizi wa zaumoyo wamaganizo kapena kulowa nawo gulu lothandizira ndi ena omwe adakumana ndi zokumana nazo zofanana. Kumbukirani, mankhwala atsopano komanso abwino nthawi zambiri amatanthauza kuti ana ena amakhala ndi moyo wautali kuposa momwe amayembekezera. Choncho, musataye mtima.

Uthenga Womaliza Wopita Nawo Kunyumba

Matenda a Lafora ndi vuto lovuta kwambiri komanso losowa. Ndizachibadwa kumva chisoni kwambiri mukamva zinthu ngati izi. Komabe, chofunika kwambiri ndikudziwa kuti simuli nokha. Pali anthu omwe angapereke chithandizo chabwino kwambiri chamankhwala kwa mwana wanu ndikukuthandizani inu ndi banja lanu kuti mupirire nthawi yovutayi. Nthawi zonse khalani ndi chidziwitso chokhudza kafukufuku watsopano ndi mankhwala atsopano. Nthawi zonse khalani ndi chiyembekezo. Komanso, musaiwale kusamalira thanzi lanu la maganizo paulendowu. Mukakhala olimba, mwana wanu adzakhala bwino.

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