Yintoni iApisodic Ataxia?

Umxholo

• Ushwankathelo
• Uhlobo lwe-episodic ataxia 1
• Uhlobo lwe-episodic ataxia 2
• Ezinye iintlobo ze-episodic ataxia
• Iimpawu ze-episodic ataxia
• Unyango lwe-episodic ataxia
• Imbonakalo

Ushwankathelo

I-episodic ataxia (EA) yimeko ye-neurological ephazamisa ukuhamba. Kunqabile, kuchaphazela ngaphantsi kwe-0,001 yeepesenti yabemi. Abantu abanamava e-EA olungelelwaniso olubi kunye / okanye ibhalansi (ataxia) enokuhlala kwimizuzwana eliqela ukuya kwiiyure ezininzi.

Ubuncinane kukho iintlobo ezisibhozo ezamkelweyo ze-EA. Zonke zililifa, nangona iintlobo ezahlukeneyo zinxulunyaniswa nezizathu ezahlukeneyo zofuzo, ubudala bokuqala, kunye neempawu. Iindidi 1 no-2 zezona zixhaphakileyo.

Funda ukuze ufumane okungakumbi malunga neentlobo ze-EA, iimpawu kunye nonyango.

Uhlobo lwe-episodic ataxia 1

Iimpawu ze-episodic ataxia yohlobo 1 (EA1) zihlala zivela ebuntwaneni. Umntwana one-EA1 uya kuba ne-bout emfutshane ye-ataxia ehlala phakathi kwemizuzwana embalwa kunye nemizuzu embalwa. Ezi ziqendu zinokwenzeka ukuya kumaxesha angama-30 ngosuku. Banokubangelwa yimeko yokusingqongileyo enje:

• ukudinwa
• ikhafeyini
• uxinzelelo lweemvakalelo okanye lomzimba

Nge-EA1, i-myokymia (i-twitch twitch) ithanda ukwenzeka phakathi okanye ngexesha le-ataxia episodes. Abantu abane-EA1 baye baxela ubunzima bokuthetha, ukungahambelani ngokunganyanzelekanga, kunye neenyikima okanye ubuthathaka bemisipha ngexesha leziqendu.

Abantu abane-EA1 banokufumana uhlaselo lokuqina kwemisipha kunye neekram zentloko, iingalo, okanye imilenze. Abanye abantu abane-EA1 banesathuthwane.

I-EA1 ibangelwa lutshintsho kuhlobo lwe-KCNA1, oluphethe imiyalelo yokwenza inani leeproteni ezifunekayo kwisitayile se potassium kwingqondo. Iitshaneli zepotassium zinceda iiseli zemithambo-luvo zivelise kwaye zithumele imiqondiso yombane. Xa utshintsho lwemfuza lwenzeka, le miqondiso inokuphazamiseka, ekhokelela kwi-ataxia kunye nezinye iimpawu.

Olu tshintsho ludluliselwa kumzali kuye emntwaneni. I-autosomal ephezulu, oko kuthetha ukuba ukuba omnye umzali une-KCNA1 mutation, umntwana ngamnye unethuba le-50 lokufumana, naye.

Uhlobo lwe-episodic ataxia 2

Uhlobo lwe-episodic ataxia 2 (EA2) ihlala ibonakala ebuntwaneni okanye ebudaleni. Iphawuleka ngeziqendu ze-ataxia ezigcina iiyure. Nangona kunjalo, ezi ziqendu zenzeka rhoqo kunakuqala nge-EA1, ukusukela kwisinye okanye ezibini ngonyaka ukuya kwezintathu ukuya kwezine ngeveki. Njengazo zonke iintlobo ze-EA, iziqendu zinokubangelwa zizinto zangaphandle ezinje:

• uxinzelelo
• ikhafeyini
• utywala
• amayeza
• ifiva
• ukwenza umthambo

Abantu abane-EA2 banokufumana ezinye iimpawu zeepisodic, ezinje:

• kunzima ukuthetha
• umbono kabini
• kukhala ezindlebeni

Ezinye iimpawu ezixeliweyo zibandakanya ukungcangcazela kwemisipha kunye nokukhubazeka okwethutyana. Ukuhamba kwamehlo okuphindaphindiweyo (nystagmus) kunokwenzeka phakathi kweziqendu. Phakathi kwabantu abane-EA2, phantse banamava entloko.

Ngokufana ne-EA1, i-EA2 ibangelwa lutshintsho olululo lwe-autosomal yemfuzo edluliselwe ukusuka kumzali kuye emntwaneni. Kule meko, i-gene echaphazelekayo yi-CACNA1A, elawula ishaneli ye-calcium.

Olu tshintsho lunye lunxulunyaniswa nezinye iimeko, kubandakanya uhlobo oluqhelekileyo lwe-hemiplegic migraine 1 (FHM1), i-ataxia eqhubela phambili, kunye ne-spinocerebellar ataxia yohlobo lwe-6 (SCA6).

Ezinye iintlobo ze-episodic ataxia

Ezinye iintlobo ze-EA zinqabile kakhulu. Ngokwazi kwethu, ziindidi 1 no-2 kuphela ezichongiweyo ngaphezulu kolunye wosapho. Ngenxa yoko, kuncinci okwaziwayo malunga nabanye. Olu lwazi lulandelayo lusekwe kwiingxelo kwiintsapho ezizodwa.

• Uhlobo lwe-episodic ataxia 3 (EA3). I-EA3 inxulunyaniswa ne-vertigo, i-tinnitus, kunye neentloko ze-migraine. Iziqendu zihlala zithatha imizuzu embalwa.
• Uhlobo lwe-episodic ataxia 4 (EA4). Olu hlobo lwachongwa kumalungu osapho amabini avela eNorth Carolina, kwaye linxulunyaniswa ne-vertigo yasemva kwexesha. Uhlaselo lwe-EA4 luhlala iiyure ezininzi.
• Uhlobo lwe-episodic ataxia 5 (EA5). Iimpawu ze-EA5 zibonakala zifana nezo ze-EA2. Nangona kunjalo, ayibangelwa kukutshintsha kwemfuza okufanayo.
• Uhlobo lwe-episodic ataxia 6 (EA6). I-EA6 ifunyenwe kumntwana omnye oye wafumana ukuxhuzula kunye nokukhubazeka okwethutyana kwelinye icala.
• Uhlobo lwe-episodic ataxia 7 (EA7). I-EA7 ixeliwe kumalungu asixhenxe wosapho olunye kwizizukulwana ezine. Njengakwi-EA2, ukuqala kwakusebuntwaneni okanye ebudaleni kwaye kuhlaselwa iiyure zokugqibela.
• Uhlobo lwe-episodic ataxia 8 (EA8). I-EA8 ichongiwe phakathi kwamalungu ali-13 osapho lwaseIreland kwizizukulwana ezithathu. I-Ataxia ivele okokuqala xa abantu befunda ukuhamba. Ezinye iimpawu zibandakanya ukungazinzi ngelixa uhamba, ukuthetha ngokungahambi kakuhle kunye nobuthathaka.

Iimpawu ze-episodic ataxia

Iimpawu ze-EA zenzeka kwiziqendu ezinokuhlala imizuzwana, imizuzu, okanye iiyure. Ziyakwenzeka kancinci kanye ngonyaka, okanye rhoqo ngamaxesha ngamaxesha.

Kuzo zonke iintlobo ze-EA, iziqendu zibonakaliswa kukungalingani kunye nokulungelelanisa (ataxia). Ngaphandle koko, i-EA inxulunyaniswa noluhlu olubanzi lweempawu ezibonakala zahluka kakhulu kusapho olunye ukuya kolandelayo. Iimpawu zikwahluka phakathi kwamalungu osapho olunye.

Ezinye iimpawu ezinokubakho zibandakanya:

• ukungaboni kakuhle okanye umbono ophindwe kabini
• isiyezi
• iintshukumo ezingazibandakanyi
• migraine intloko ebuhlungu
• Ukudibanisa izihlunu (myokymia)
• ukuphazamiseka kwemisipha (myotonia)
• izihlunu zemithambo
• ubuthathaka bemisipha
• isicaphucaphu nokugabha
• Ukuhamba kwamehlo okuphindaphindiweyo (nystagmus)
• ukukhala ezindlebeni (tinnitus)
• ukuxhuzula
• intetho edibeneyo (i-dysarthria)
• ukukhubazeka okwethutyana kwelinye icala (hemiplegia)
• ukungcangcazela
• i-vertigo

Ngamanye amaxesha, iziqendu ze-EA zibangelwa zizinto zangaphandle. Ezinye izinto ezaziwayo ze-EA zibandakanya:

• utywala
• ikhafeyini
• ukutya
• ukudinwa
• utshintsho lwehomoni
• ukugula, ngakumbi ngumkhuhlane
• amayeza
• umsebenzi womzimba
• uxinzelelo

Olunye uphando kufuneka lwenziwe ukuqonda ukuba ezi zinto zibangela ukuba zisebenze njani i-EA.

Unyango lwe-episodic ataxia

I-episodic ataxia ifunyaniswa kusetyenziswa iimvavanyo ezinje ngovavanyo lwe-neurological, i-electromyography (EMG), kunye novavanyo lofuzo.

Emva kokuxilongwa, i-EA inyangwa ngokunyanga ngamayeza e-anticonvulsant / antiseizure. I-Acetazolamide yenye yezona ziyobisi zixhaphakileyo kunyango lwe-EA1 kunye ne-EA2, nangona iyasebenza ngakumbi kunyango lwe-EA2.

Olunye unyango olusetyenziselwa ukunyanga i-EA1 lubandakanya i-carbamazepine kunye ne-valproic acid. Kwi-EA2, amanye amayeza abandakanya i-flunarizine kunye ne-dalfampridine (4-aminopyridine).

Ugqirha wakho okanye ugqirha wemithambo-luvo unokuyalela amayeza ongezelelweyo ukunyanga ezinye iimpawu ezinxulumene ne-EA. Umzekelo, i-amifampridine (3,4-diaminopyridine) ibonakalise iluncedo kunyango lwe-nystagmus.

Ngamanye amaxesha, unyango lomzimba lunokusetyenziswa kunye namayeza ukuphucula amandla kunye nokuhamba. Abantu abane-ataxia banokujonga ukutya kunye nokutshintsha kwendlela yokuphila ukunqanda izinto ezinokubangela kunye nokugcina impilo iyonke.

Izilingo ezongezelelweyo zeklinikhi ziyafuneka ukuphucula iindlela zokhetho kubantu abane-EA.

Imbonakalo

Akukho lunyango lwalo naluphi na uhlobo lwe-ataxia ye-episodic. Nangona i-EA yimeko engapheliyo, ayichaphazeli ubude bexesha lokuphila. Ngexesha, iimpawu ngamanye amaxesha ziyahamba zodwa. Xa iimpawu ziqhubeka, unyango lunokunceda ekunciphiseni okanye ukuphelisa ngokupheleleyo.

Thetha nogqirha wakho malunga neempawu zakho. Banokuyalela unyango olunokukunceda ugcine umgangatho wobomi.