Kuyini i-Episodic Ataxia?

-Delile

• Ukubuka konke
• Uhlobo lwe-episodic ataxia 1
• Uhlobo lwe-episodic ataxia 2
• Ezinye izinhlobo ze-ataxia ye-episodic
• Izimpawu ze-episodic ataxia
• Ukwelashwa kwe-episodic ataxia
• Umbono

Ukubuka konke

I-episodic ataxia (EA) yisimo semizwa esilimaza ukunyakaza. Kuyaqabukela, kuthinta amaphesenti angaphansi kuka-0.001 wabantu. Abantu abane-EA bahlangabezana neziqephu zokungahambisani kahle kanye / noma ibhalansi (ataxia) engahlala kumasekhondi ambalwa kuya emahoreni amaningana.

Kunezinhlobo okungenani eziyisishiyagalombili ezaziwayo ze-EA. Zonke ziyifa, noma izinhlobo ezahlukahlukene zihlotshaniswa nezimbangela ezahlukahlukene zofuzo, ubudala bokuqala, nezimpawu. Izinhlobo 1 no-2 zivame kakhulu.

Funda ukuze uthole okuningi mayelana nezinhlobo ze-EA, izimpawu, nokwelashwa.

Uhlobo lwe-episodic ataxia 1

Izimpawu ze-episodic ataxia type 1 (EA1) zivame ukuvela ebuntwaneni. Ingane ene-EA1 izoba neziqubu ezimfushane ze-ataxia ezihlala phakathi kwemizuzwana embalwa nemizuzu embalwa. Lezi ziqephu zingenzeka kuze kube izikhathi ezingama-30 ngosuku. Zingabangelwa yizici zemvelo ezifana nalezi:

• ukukhathala
• i-caffeine
• ukucindezeleka ngokomzwelo noma ngokomzimba

Nge-EA1, i-myokymia (twitch muscle) ivame ukwenzeka phakathi noma ngesikhathi seziqephu ze-ataxia. Abantu abane-EA1 nabo babike ubunzima bokukhuluma, ukunyakaza okungazibandakanyi, nokuthuthumela noma ubuthakathaka bemisipha ngesikhathi seziqephu.

Abantu abane-EA1 nabo bangathola ukuhlaselwa kokuqina kwemisipha kanye namajaqamba ekhanda, izingalo, noma imilenze. Abanye abantu abane-EA1 nabo banesifo sokuwa.

I-EA1 idalwa ukuguquka kwesakhi sofuzo se-KCNA1, esiphethe imiyalo yokwenza inani lamaprotheni adingekayo esiteshini se-potassium ebuchosheni. Iziteshi ze-potassium zisiza amangqamuzana ezinzwa akhiqize futhi athumele amasiginali kagesi. Lapho ukuguquka kwezakhi zofuzo kwenzeka, lezi zimpawu zingaphazamiseka, okuholele ku-ataxia nakwezinye izimpawu.

Lokhu kuguquka kudluliselwa kusuka kumzali kuye enganeni.Kuyi-autosomal ephezulu, okusho ukuthi uma umzali oyedwa enoguquko lwe-KCNA1, ingane ngayinye inethuba elingamaphesenti angama-50 lokuyithola, nayo.

Uhlobo lwe-episodic ataxia 2

Uhlobo lwe-episodic ataxia 2 (EA2) luvame ukuvela ebuntwaneni noma ebudaleni. Kubonakala ngeziqephu ze-ataxia ezisebenza emahoreni okugcina. Kodwa-ke, lezi ziqephu zenzeka kancane kakhulu kune-EA1, kusuka kokukodwa noma ezimbili ngonyaka kuya kwezintathu kuya kwezine ngesonto. Njengezinye izinhlobo ze-EA, iziqephu zingadalwa yizinto zangaphandle ezifana nalezi:

• ukucindezeleka
• i-caffeine
• utshwala
• imithi
• imfiva
• ukuzikhandla komzimba

Abantu abane-EA2 bangathola ezinye izimpawu ze-episodic, njenge:

• kunzima ukukhuluma
• ukubona kabili
• kukhala ezindlebeni

Ezinye izimpawu ezibikiwe zibandakanya ukuthuthumela kwemisipha nokukhubazeka okwesikhashana. Ukunyakaza kwamehlo okuphindaphindwayo (i-nystagmus) kungenzeka phakathi kweziqephu. Phakathi kwabantu abane-EA2, cishe futhi babhekana nekhanda le-migraine.

Ngokufana ne-EA1, i-EA2 ibangelwa ukuguqulwa kwezakhi zofuzo okubusa kakhulu okudluliselwa kusuka kumzali kuye enganeni. Kulokhu, ufuzo oluthintekile yi-CACNA1A, elawula isiteshi se-calcium.

Lokhu kuguqulwa okufanayo kuhlotshaniswa nezinye izimo, kufaka phakathi uhlobo olujwayelekile lwe-hemiplegic migraine 1 (FHM1), i-ataxia eqhubekayo, ne-spinocerebellar ataxia type 6 (SCA6).

Ezinye izinhlobo ze-ataxia ye-episodic

Ezinye izinhlobo ze-EA zivame ngokweqile. Ngokwazi kwethu, izinhlobo 1 no-2 kuphela ezikhonjwe emgqeni womndeni ongaphezu koyedwa. Ngenxa yalokhu, kuncane okwaziwayo ngamanye. Imininingwane elandelayo isuselwa emibikweni emindenini eyodwa.

• Uhlobo lwe-episodic ataxia 3 (EA3). I-EA3 ihlotshaniswa ne-vertigo, tinnitus, kanye nekhanda le-migraine. Iziqephu zivame ukuhlala imizuzu embalwa.
• Uhlobo lwe-episodic ataxia 4 (EA4). Lolu hlobo lukhonjwe emalungwini womndeni amabili avela eNyakatho Carolina, futhi luhlotshaniswa ne-vertigo esekupheleni kwesikhathi. Ukuhlaselwa kwe-EA4 kuvame ukuhlala amahora amaningi.
• Uhlobo lwe-episodic ataxia 5 (EA5). Izimpawu ze-EA5 zivela zifana nalezo ze-EA2. Kodwa-ke, akubangelwa ukushintshwa okufanayo kofuzo.
• Uhlobo lwe-episodic ataxia 6 (EA6). I-EA6 itholakele enganeni eyodwa nayo eye yahlangabezana nokuquleka nokukhubazeka okwesikhashana ohlangothini olulodwa.
• Uhlobo lwe-episodic ataxia 7 (EA7). I-EA7 ibikwe emalungwini ayisikhombisa omndeni owodwa ezizukulwaneni ezine. Njengakwi-EA2, ukuqala kwakusebuntwaneni noma ukuba mdala futhi kuhlaselwa amahora wokugcina.
• Uhlobo lwe-episodic ataxia 8 (EA8). I-EA8 ikhonjwe phakathi kwamalungu ayi-13 omndeni wase-Ireland ezizukulwaneni ezintathu. I-Ataxia ivele okokuqala lapho abantu befunda ukuhamba. Ezinye izimpawu zazibandakanya ukungazinzi ngenkathi uhamba, ukukhuluma okungahambi kahle, nobuthakathaka.

Izimpawu ze-episodic ataxia

Izimpawu ze-EA zenzeka eziqeshini ezingahlala imizuzwana embalwa, imizuzu, noma amahora. Zingahle zenzeke okungenani kanye ngonyaka, noma kaningi kaningana ngosuku.

Kuzo zonke izinhlobo ze-EA, iziqephu zibonakala ngokulinganisela okungafanelekile nokuxhumanisa (ataxia). Ngaphandle kwalokho, i-EA ihlotshaniswa nezimpawu ezahlukahlukene ezibonakala zehluka kakhulu kusuka emndenini owodwa kuya komunye. Izimpawu zingahluka futhi phakathi kwamalungu omndeni owodwa.

Ezinye izimpawu ezingaba khona zifaka:

• ukufiphala noma ukubona kabili
• isiyezi
• ukunyakaza okungazibandakanyi
• ikhanda le-migraine
• ukudikiza kwemisipha (myokymia)
• ukuphazamiseka kwemisipha (myotonia)
• amajaqamba
• ubuthakathaka bemisipha
• isicanucanu nokuhlanza
• ukunyakaza kwamehlo okuphindayo (nystagmus)
• ukukhala ezindlebeni (tinnitus)
• isithuthwane
• inkulumo e-slurred (i-dysarthria)
• ukukhubazeka kwesikhashana ngakolunye uhlangothi (hemiplegia)
• ukuthuthumela
• i-vertigo

Kwesinye isikhathi, iziqephu ze-EA zidalwa yizinto zangaphandle. Ezinye izimbangela ezaziwa nge-EA zifaka:

• utshwala
• i-caffeine
• ukudla
• ukukhathala
• izinguquko ze-hormonal
• ukugula, ikakhulukazi ngomkhuhlane
• imithi
• umsebenzi womzimba
• ukucindezeleka

Ucwaningo oluningi ludinga ukwenziwa ukuqonda ukuthi lezi zimbangela zisebenzisa kanjani i-EA.

Ukwelashwa kwe-episodic ataxia

I-episodic ataxia itholakala ngokusebenzisa izivivinyo ezifana nokuhlolwa kwemizwa, i-electromyography (EMG), nokuhlolwa kofuzo.

Ngemuva kokuxilongwa, i-EA ivame ukuphathwa ngemithi yokulwa ne-anticonvulsant / antiseizure. I-Acetazolamide ingenye yezidakamizwa ezivame kakhulu ekwelapheni i-EA1 ne-EA2, yize isebenza ngempumelelo ekwelapheni i-EA2.

Eminye imithi esetshenziswa ukwelapha i-EA1 ifaka i-carbamazepine ne-valproic acid. Ku-EA2, ezinye izidakamizwa zifaka i-flunarizine ne-dalfampridine (4-aminopyridine).

Udokotela wakho noma udokotela wezinzwa angahlinzeka ngemithi eyengeziwe yokwelapha ezinye izimpawu ezihambisana ne-EA. Isibonelo, i-amifampridine (3,4-diaminopyridine) ibonakale ilusizo ekwelapheni i-nystagmus.

Kwezinye izimo, ukwelashwa ngokomzimba kungasetshenziswa kanye nemithi ukuthuthukisa amandla nokuhamba. Abantu abane-ataxia bangase futhi bacabangele izinguquko zokudla nezindlela zokuphila ukugwema izimbangela nokugcina impilo yonke.

Ukuhlolwa okwengeziwe komtholampilo kuyadingeka ukwenza ngcono izindlela zokwelashwa zabantu abane-EA.

Umbono

Alikho ikhambi lanoma yiluphi uhlobo lwe-ataxia ye-episodic. Yize i-EA iyisimo esingelapheki, ayithinti isikhathi sokuphila. Ngokuhamba kwesikhathi, izimpawu kwesinye isikhathi ziyahamba zodwa. Lapho izimpawu ziqhubeka, ukwelashwa kungasiza ekunciphiseni noma ekuqedeni ngokuphelele.

Khuluma nodokotela wakho ngezimpawu zakho. Bangakunikeza izindlela zokwelashwa ezikusizayo ukuthi ugcine impilo yakho iphila saka.