Kodi Episodic Ataxia Ndi Chiyani?

Zamkati

• Chidule
• Episodic ataxia mtundu 1
• Episodic ataxia mtundu 2
• Mitundu ina ya episodic ataxia
• Zizindikiro za episodic ataxia
• Chithandizo cha episodic ataxia
• Maganizo ake

Chidule

Episodic ataxia (EA) ndimavuto amitsempha omwe amalepheretsa kuyenda. Ndizochepa, zomwe zimakhudza anthu ochepera pa 0.001 peresenti. Anthu omwe ali ndi EA amakumana ndi magawo osagwirizana bwino komanso / kapena kulinganiza (ataxia) komwe kumatha kukhala kwa masekondi angapo mpaka maola angapo.

Pali mitundu isanu ndi itatu yodziwika ya EA. Zonsezi ndizobadwa nazo, ngakhale mitundu yosiyanasiyana imakhudzana ndimitundu yosiyanasiyana, mibadwo yoyambira, ndi zizindikilo. Mitundu 1 ndi 2 ndizofala kwambiri.

Werengani kuti mupeze zambiri za mitundu ya EA, zizindikiro, ndi chithandizo.

Episodic ataxia mtundu 1

Zizindikiro za episodic ataxia mtundu 1 (EA1) zimawonekera ali mwana. Mwana yemwe ali ndi EA1 amatha kukhala ndi ataxia kwakanthawi kochepa komwe kumakhala pakati pamasekondi pang'ono ndi mphindi zochepa. Magawo awa amatha kuchitika mpaka 30 patsiku. Zitha kuyambitsidwa ndi zinthu zachilengedwe monga:

• kutopa
• tiyi kapena khofi
• kupsinjika kwamaganizidwe kapena kuthupi

Ndi EA1, myokymia (kupindika kwa minofu) imakonda kuchitika pakati kapena munthawi ya ataxia. Anthu omwe ali ndi EA1 awonetsanso zovuta pakulankhula, mayendedwe osadzipangitsa, komanso kunjenjemera kapena kufooka kwa minofu munthawi yamagawo.

Anthu omwe ali ndi EA1 amathanso kukumana ndi zovuta za minofu ndi kukokana kwa mutu, mikono, kapena miyendo. Anthu ena omwe ali ndi EA1 amakhalanso ndi khunyu.

EA1 imayambitsidwa chifukwa cha kusintha kwa jini la KCNA1, lomwe limanyamula malangizo kuti apange mapuloteni angapo ofunikira potaniyamu ya potaziyamu muubongo. Njira za potaziyamu zimathandiza maselo amitsempha kupanga ndi kutumiza ma siginolo amagetsi. Pakasintha chibadwa, izi zimatha kusokonezedwa, zomwe zimayambitsa ataxia ndi zizindikilo zina.

Kusintha kumeneku kumapitilira kuchokera kwa kholo kupita kwa mwana. Ndi autosomal yolamulira, zomwe zikutanthauza kuti ngati kholo limodzi lili ndi kusintha kwa KCNA1, mwana aliyense ali ndi mwayi wa 50 peresenti kuti alandire, nawonso.

Episodic ataxia mtundu 2

Episodic ataxia mtundu 2 (EA2) nthawi zambiri imawoneka muubwana kapena ukalamba. Amadziwika ndi magawo a ataxia omwe amakhala maola omaliza. Komabe, zigawo izi zimachitika pafupipafupi kuposa EA1, kuyambira chaka chimodzi kapena ziwiri pachaka mpaka zitatu kapena zinayi pasabata. Monga mitundu ina ya EA, zigawo zimatha kuyambitsidwa ndi zinthu zakunja monga:

• nkhawa
• tiyi kapena khofi
• mowa
• mankhwala
• malungo
• zolimbitsa thupi

Anthu omwe ali ndi EA2 amatha kukhala ndi zizindikilo zina zakanthawi kochepa, monga:

• kuvuta kuyankhula
• masomphenya awiri
• kulira m'makutu

Zizindikiro zina zomwe zimafotokozedwapo ndi monga kunjenjemera kwa minofu ndikufa ziwalo kwakanthawi. Kusunthika kwamaso mobwerezabwereza (nystagmus) kumatha kuchitika pakati pa zigawo. Pakati pa anthu omwe ali ndi EA2, pafupifupi amakumananso ndi mutu wa migraine.

Mofananamo ndi EA1, EA2 imayambitsidwa ndi kusintha kwamphamvu kwa ma autosomal komwe kumachokera kwa kholo kupita kwa mwana. Poterepa, jini lomwe lakhudzidwa ndi CACNA1A, lomwe limayang'anira njira ya calcium.

Kusintha komweku kumalumikizidwa ndi zina, kuphatikiza hemiplegic migraine mtundu 1 (FHM1), ataxia wopita patsogolo, ndi spinocerebellar ataxia mtundu 6 (SCA6).

Mitundu ina ya episodic ataxia

Mitundu ina ya EA ndiyosowa kwambiri. Momwe tikudziwira, mitundu 1 ndi 2 yokha ndiomwe adadziwika m'mabanja ambiri. Zotsatira zake, ndizochepa zomwe zimadziwika za enawo. Zotsatirazi zikutsatiridwa ndi malipoti ochokera m'mabanja amodzi.

• Episodic ataxia mtundu 3 (EA3). EA3 imagwirizanitsidwa ndi mutu wa vertigo, tinnitus, ndi migraine. Magawo amakonda kukhala mphindi zochepa.
• Episodic ataxia mtundu 4 (EA4). Mtunduwu udadziwika m'mabanja awiri ochokera ku North Carolina, ndipo umalumikizidwa ndi ma vertigo oyambilira. Kuukira kwa EA4 kumatha maola angapo.
• Episodic ataxia mtundu 5 (EA5). Zizindikiro za EA5 zimawoneka chimodzimodzi ndi za EA2. Komabe, sizimayambitsidwa ndi kusintha komweko kwa majini.
• Episodic ataxia mtundu 6 (EA6). EA6 yapezeka ndi mwana m'modzi yemwe adakomoka komanso kufa ziwalo kwakanthawi mbali imodzi.
• Episodic ataxia mtundu 7 (EA7). EA7 idanenedwapo mwa mamembala asanu ndi awiri a banja limodzi m'mibadwo inayi. Monga ndi EA2, kuyambika kunali paubwana kapena uchikulire komanso kuwukira maola omaliza.
• Episodic ataxia mtundu wa 8 (EA8). EA8 yadziwika pakati pa mamembala 13 am'banja laku Ireland pamibadwo itatu. Ataxia adawonekera koyamba pomwe anthuwo amaphunzira kuyenda. Zizindikiro zina zimaphatikizapo kusakhazikika poyenda, kuyankhula modekha, ndi kufooka.

Zizindikiro za episodic ataxia

Zizindikiro za EA zimachitika m'magawo omwe amatha masekondi angapo, mphindi, kapena maola. Zitha kuchitika kamodzi kokha pachaka, kapena kangapo patsiku.

M'mitundu yonse ya EA, zigawo zimadziwika ndi kusakhazikika komanso kulumikizana (ataxia). Kupanda kutero, EA imagwirizanitsidwa ndi zizindikilo zingapo zomwe zimawoneka kuti zimasiyana kwambiri kuchokera kubanja limodzi kupita kwina. Zizindikiro zimasiyananso pakati pa anthu am'banja limodzi.

Zizindikiro zina zotheka ndi izi:

• kusawona bwino kapena masomphenya awiri
• chizungulire
• kusuntha kosachita kufuna
• migraine mutu
• kugwedeza minofu (myokymia)
• mitsempha ya minofu (myotonia)
• kukokana kwa minofu
• kufooka kwa minofu
• nseru ndi kusanza
• mayendedwe abwerezabwereza amaso (nystagmus)
• kulira m'makutu (tinnitus)
• kugwidwa
• mawu osalankhula (dysarthria)
• ziwalo zosakhalitsa mbali imodzi (hemiplegia)
• kunjenjemera
• zowoneka

Nthawi zina, zigawo za EA zimayambitsidwa ndi zinthu zakunja. Zina mwazomwe zimayambitsa EA ndi izi:

• mowa
• tiyi kapena khofi
• zakudya
• kutopa
• kusintha kwa mahomoni
• matenda, makamaka ndi malungo
• mankhwala
• zolimbitsa thupi
• nkhawa

Kafukufuku wowonjezereka akuyenera kuchitidwa kuti timvetsetse momwe zoyambitsa izi zimathandizira EA.

Chithandizo cha episodic ataxia

Episodic ataxia imapezeka kuti imagwiritsa ntchito mayeso monga kuyezetsa magazi, electromyography (EMG), komanso kuyesa majini.

Pambuyo pozindikira, EA amathandizidwa ndi mankhwala a anticonvulsant / antiseizure. Acetazolamide ndi mankhwala omwe amapezeka kwambiri pochiza EA1 ndi EA2, ngakhale ndizothandiza kwambiri pochiza EA2.

Mankhwala ena omwe amagwiritsidwa ntchito pochiza EA1 ndi carbamazepine ndi valproic acid. Mu EA2, mankhwala ena amaphatikizapo flunarizine ndi dalfampridine (4-aminopyridine).

Dokotala wanu kapena katswiri wa zamagulu angakupatseni mankhwala owonjezera kuti athetse zina zomwe zimakhudzana ndi EA. Mwachitsanzo, amifampridine (3,4-diaminopyridine) yathandiza pochizira nystagmus.

Nthawi zina, chithandizo chamthupi chimatha kugwiritsidwa ntchito limodzi ndi mankhwala kuti mukhale ndi mphamvu komanso kuyenda. Anthu omwe ali ndi ataxia amathanso kulingalira zakusintha kwa zakudya ndi moyo wawo kuti apewe zomwe zingayambitse komanso kukhala ndi thanzi labwino.

Mayeso owonjezera azachipatala amafunikira kuti athetse njira zamankhwala kwa anthu omwe ali ndi EA.

Maganizo ake

Palibe mankhwala amtundu uliwonse wa episodic ataxia. Ngakhale EA ndi yanthawi yayitali, sizimakhudza chiyembekezo cha moyo. Pakapita nthawi, zizindikiro nthawi zina zimatha zokha. Zizindikiro zikapitilira, chithandizo chitha kuthandiza kuti muchepetse kapena kuthetseratu.

Lankhulani ndi dokotala wanu za matenda anu. Amatha kukupatsirani mankhwala othandizira omwe angakuthandizeni kukhalabe ndi moyo wabwino.