He aha ka Episodic Ataxia?

Anter

• Hōʻike Overview
• Episodic ataxia ʻano 1
• Episodic ataxia ʻano 2
• Nā ʻano ʻē aʻe o ka episodic ataxia
• Nā ʻōuli o ka episodic ataxia
• Ka mālama ʻana i ka episodic ataxia
• ʻO ka nānā aku

Hōʻike Overview

ʻO Episodic ataxia (EA) kahi ʻano neurological e hoʻopōʻino i ka neʻe. He kakaikahi ia, e hoʻololi ana ma lalo o 0,001 pākēneka o ka heluna kānaka. ʻO ka poʻe i loaʻa iā EA nā ʻāpana o ka hoʻonohonoho maikaʻi ʻole a me / a i ʻole kaulike (ataxia) i hiki ke hala ma kekona kekona a i mau hola.

Aia ma ka liʻiliʻi he ʻewalu mau ʻano o EA. He hoʻoilina ko lākou āpau, ʻoiai pili nā ʻano ʻokoʻa me nā kumu kūlohelohe like ʻole, nā makahiki o ka hoʻomaka ʻana, a me nā ʻōuli. ʻO nā ʻano 1 a me 2 ka mea maʻamau.

E heluhelu e ʻike hou aʻe e pili ana i nā ʻano EA, nā ʻōuli, a me ka lāʻau.

Episodic ataxia ʻano 1

ʻO nā ʻōuli o ka episodic ataxia ʻano 1 (EA1) ʻike pinepine ʻia i ka wā kamaliʻi. E loaʻa i kahi keiki me EA1 nā pōkole o ke ataxia i hala ma waena o kekahi mau kekona a me kekahi mau minuke. Hiki i kēia mau ʻāpana ke hōʻea i 30 mau manawa i kēlā me kēia lā. Hoʻokumu ʻia paha lākou e nā kaiapuni e like me:

• luhi
• caffeine
• kaumaha ʻino a kino paha

Me EA1, hiki i ka myokymia (twitch muscle) ke hana ma waena a i ʻole i ka wā ataxia. ʻO ka poʻe i loaʻa iā EA1 ua hōʻike pū kekahi i ka paʻakikī e ʻōlelo, nā neʻe ʻole, a me nā haʻalulu a i ʻole nāwaliwali o nā mākala i nā manawa.

Hiki i ka poʻe me EA1 ke ʻike i ka hōʻeha o ka ʻāʻī paʻakikī a me nā ʻūʻī o ka poʻo, nā lima, a me nā wāwae. ʻO kekahi poʻe i loaʻa iā EA1 ka maʻi epilepsy.

Hoʻokumu ʻia ʻo EA1 e kahi hoʻololi i ka gen KCNA1, e hāpai ana i nā ʻōkuhi e hana i nā protein i makemake ʻia no kahi kahawai potassium i ka lolo. Kōkua nā kahawai potassium i nā pūnaewele nerve e hoʻoulu a hoʻouna i nā hōʻailona uila. Ke kū nei kahi mutation genetical, hiki i kēia mau hōʻailona ke hoʻoluhi ʻia, a hiki i nā ataxia a me nā ʻōuli ʻē aʻe.

Hoʻoholo ʻia kēia hoʻololi ʻana mai ka makua a ke keiki. He autosomal mana ia, ʻo ia hoʻi inā loaʻa kahi mutation KCNA1 i kekahi makua, loaʻa i kēlā me kēia keiki he 50 pākēneka ke loaʻa pū kekahi.

Episodic ataxia ʻano 2

ʻIke pinepine ʻia ʻo Episodic ataxia ʻano 2 (EA2) i ka wā kamaliʻi a i ʻole ke oʻo makua. Hoʻohālikelike ʻia e nā ʻāpana o ke ataxia i kēlā mau hola hope loa. Eia nō naʻe, ʻoi aku ka pinepine o kēia mau ʻāpana ma mua o EA1, mai hoʻokahi a ʻelua paha i kēlā me kēia makahiki a i ʻekolu a ʻehā i kēlā me kēia pule. E like me nā ʻano EA ʻē aʻe, hiki i nā ʻāpana o waho ke hoʻomaka ʻia e nā mea kūwaho e like me:

• hoʻoluhi
• caffeine
• ʻalekohola
• lāʻau lapaʻau
• fiva
• hooikaika kino

ʻO ka poʻe i loaʻa iā EA2 hiki ke ʻike i nā hōʻailona episodic hou, e like me:

• paʻakikī e ʻōlelo
• hihio pālua
• kani i nā pepeiao

ʻO nā ʻōuli ʻē aʻe i hōʻike ʻia e pili ana i ka haʻalulu o ka puʻupuʻu a me ka lōlō manawa Hiki ke neʻe i ka neʻe ʻana o ka maka (nystagmus) ma waena o nā ʻāpana. Ma waena o ka poʻe me EA2, kokoke paha i ka ʻike i ka migraine.

ʻIke like iā EA1, kumu ʻia ʻo EA2 e kahi auticomal domic mutation mutation i hoʻoili ʻia mai ka makua a ke keiki. I kēia hihia, ʻo ka gen i hoʻopilikia ʻia ʻo CACNA1A, ka mea e kaohi i kahi kōpana calcium.

Pili kēia hoʻololi like ʻana me nā kūlana ʻē aʻe, e like me ka hemiplegic migraine ʻano 1 (FHM1), ataxia holomua, a me spinocerebellar ataxia ʻano 6 (SCA6).

Nā ʻano ʻē aʻe o ka episodic ataxia

ʻAno loa nā ʻano EA ʻē aʻe. E like me kā mākou e ʻike ai, ʻike wale ʻia nā ʻano 1 a me 2 ma mua o hoʻokahi laina ʻohana. ʻO ka hopena, ʻike iki ʻia e pili ana i nā mea ʻē aʻe. Hoʻokumu ʻia kēia ʻike ma muli o nā hōʻike i loko o nā ʻohana hoʻokahi.

• Episodic ataxia ʻano 3 (EA3). Pili ʻo EA3 me ka vertigo, tinnitus, a me ka migraine. Kū mau nā Episodes i kekahi mau minuke.
• Episodic ataxia ʻano 4 (EA4). Ua ʻike ʻia kēia ʻano i nā lālā ʻohana ʻelua mai North Carolina, a pili pū ʻia me ka vertigo of late-onset. Hoʻomaʻa pinepine ʻo EA4 i mau hola.
• Episodic ataxia ʻano 5 (EA5). ʻIke like nā ʻōuli o EA5 me nā EA2. Eia naʻe, ʻaʻole ia e kumu ʻia e ka hoʻololi kūlike.
• Episodic ataxia ʻano 6 (EA6). Ua ʻike ʻia ʻo EA6 i loko o kahi keiki hoʻokahi i ʻike i ka hopu ʻana a me ka maʻi pākiki manawa ma kekahi ʻaoʻao.
• Episodic ataxia ʻano 7 (EA7). Ua hōʻike ʻia ʻo EA7 i loko o ʻehiku mau lālā o kahi ʻohana hoʻokahi ma luna o nā hanauna ʻehā. E like me EA2, hoʻomaka i ka wā kamaliʻi a i ʻole ke ʻōpio makua a hoʻouka i nā hola i hala.
• Episodic ataxia ʻano 8 (EA8). Ua ʻike ʻia ʻo EA8 ma waena o 13 mau lālā o ka ʻohana ʻIralani ma mua o ʻekolu hanauna. Ua puka mua ʻo Ataxia i ke aʻo ʻana o kēlā me kēia kanaka e hele wāwae. ʻO nā ʻōuli ʻē aʻe e pili ana i ka paheʻe ʻole i ka wā e hele wāwae ana, a me ka ʻōlelo nāwaliwali.

Nā ʻōuli o ka episodic ataxia

Kū nā ʻōuli o EA i nā ʻāpana i hiki ke hala i kekona, mau minuke, a mau hola paha. Hiki paha iā lākou ma kahi o hoʻokahi manawa i kēlā me kēia makahiki, a i ʻole pinepine i nā manawa i kēlā me kēia lā.

I nā ʻano EA a pau, ʻike ʻia nā ʻāpana e ke kaulike ʻole a me ka hoʻohui ʻana (ataxia). Inā ʻole, pili ʻo EA me ka laulā o nā ʻōuli e like me ka ʻokoʻa o ka nui mai kahi ʻohana a kahi ʻohana aʻe. Hiki i nā ʻōuli ke hoʻololi i waena o nā lālā o ka ʻohana like.

ʻO nā hōʻailona kūpono ʻē aʻe e pili pū me:

• ʻike hihi ʻole a pālua paha
• ʻūpā
• neʻe ʻole
• ʻeha poʻo migraine
• mimilo i ka ʻili (myokymia)
• Muscle spasms (myotonia)
• ʻūpē mākala
• nāwaliwali o nā mākala
• nausea a me ka luaʻi
• neʻe hou o ka maka (nystagmus)
• kani i nā pepeiao (tinnitus)
• ka hopu ʻana
• haʻi ʻōlelo (disarthria)
• paralysis kuikawa ma kekahi ʻaoʻao (hemiplegia)
• haʻalulu
• vertigo

I kekahi manawa, hoʻomaka ʻia nā māhele EA e nā kumu kūwaho. ʻO kekahi mau mea hoʻomaka EA i ʻike ʻia:

• ʻalekohola
• caffeine
• papaʻai
• luhi
• nā hoʻololi hormonal
• maʻi, ʻoi loa me ka fiva
• lāʻau lapaʻau
• hooikaika kino
• hoʻoluhi

Pono e hana hou i kahi noiʻi e hoʻomaopopo pehea ka hopena o kēia mau mea i EA.

Ka mālama ʻana i ka episodic ataxia

ʻIke ʻia ʻo ataisis Episodic me ka hoʻohana ʻana i nā hoʻokolohua e like me ka hoʻokolohua neurological, electromyography (EMG), a me ka hoʻāʻo genetika.

Ma hope o ka hōʻoia ʻana, mālama pinepine ʻia ʻo EA me ka lāʻau anticonvulsant / antiseizure. ʻO Acetazolamide kekahi o nā lāʻau lapaʻau maʻamau i ka mālama ʻana iā EA1 a me EA2, ʻoiai ʻoi aku ka maikaʻi o ka mālama ʻana iā EA2.

Hoʻohana ʻia nā lāʻau ʻē aʻe e mālama iā EA1 me ka carbamazepine a me ka waikawa valproic. I ka EA2, nā lāʻau ʻē aʻe me flunarizine a me dalfampridine (4-aminopyridine).

Kauoha paha kāu kauka a neurologist paha i nā lāʻau hou aku e mālama i nā ʻōuli ʻē aʻe e pili ana me EA. ʻO kahi laʻana, ua hōʻoia maikaʻi ʻo amifampridine (3,4-diaminopyridine) i ka mālama ʻana i ka nystagmus.

I kekahi mau hihia, hiki ke hoʻohana i ke olakino kino me ka lāʻau e hoʻomaikaʻi ai i ka ikaika a me ka neʻe. E noʻonoʻo paha ka poʻe i loaʻa i ka ataxia i ka papaʻai a me nā loli nohona e hōʻalo ai i nā mea hoʻonāukiuki a mālama i ke olakino holoʻokoʻa.

Koi ʻia nā hoʻokolohua hoʻokolohua hou e hoʻomaikaʻi i nā koho lapaʻau no ka poʻe me EA.

ʻO ka nānā aku

ʻAʻohe mea ola no kekahi ʻano o ka episodic ataxia. ʻOiai ʻo EA kahi ʻano mau, ʻaʻole ia e hoʻopili i ka lana o ke ola. Me ka manawa, hele aku nā ʻōuli i kā lākou iho. Ke hoʻomau nei nā ʻōuli, hiki i ka lapaʻau ke kōkua pinepine i ka hōʻoluʻolu a i ʻole hoʻopau loa iā lākou.

E kamaʻilio me kāu kauka e pili ana i kāu mau hōʻailona. Hiki iā lākou ke kuhikuhi i nā hana kōkua e kōkua iā ʻoe e mālama i ke ola maikaʻi.