Ataxia Friedreich esithi: Iimpawu, diagnosis and Treatment

Ataxia - sifo, wabonakaliswa incoordination lweentshukumo, motility disorder ethile ukuhla amandla yesiqephu. Enye iintlobo - usapho Ataxia Friedreich, le ndlela yeyona ixhaphakileyo ataxias zamafa. Oku kwenzeka phakathi 2 no-7 100 000.

Isifo amaninzi iqala ebuntwaneni, ngomhla 1-2 leminyaka th zobomi (nangona kukho iimeko apho ziphuma emva kweminyaka engama-20). Ataxia ngokuqhelekileyo inesifo amalungu entsapho aliqela - nabazalwana, noodade, yaye kwiimeko ezininzi kwenzeka emtshatweni ezinegazi iintsapho a. Iimpawu zivela ngokukhawuleza, isifo siqhubela ngokucotha, ihlala eminyaka yaye kuzisa nobunzima kakhulu ngaphandle noncedo lwezonyango.

Iimpawu zesi sifo

Eyona inkalo Ataxia Friedreich kaThixo - iqinelwa abaqiniseki isigulane. Yena ehamba kakubi abeke iinyawo zakhe kuphambuka ububanzi kakuhle ukusuka embindini ukuya emacaleni. Xa isifo siqhubeka, ukulahlekelwa uququzelelo kwabenza iingalo kunye nemisipha esifubeni kunye nobuso. sobuso litshintsha, oko lingancipha, kuba ayinako. Okwehlileyo okanye zinyamalale umsipha ikhaliphe periosteal (kuqala ngeenyawo, ngoko ingahlakazeki ukuya ngeengalo). indlebe tsakisi njalo. Zokufota iqhubeka.

Ezibangela isifo

Olu hlobo ataxias - ilifa, uhlobo esinganyangekiyo, umlinganiswa progressive. Unxulumene Ataxia spinocerebellar, nto leyo iqela efanayo iimpawu zezifo ezibangelwa izitshanguba ze kwiCerebellum, brainstem, umnqonqo kunye luvo spinal, nto leyo edla iphazamisane kwesifo efanelekileyo. Noko ke, phakathi cerebellar Ataxia isifo sofuzo iphawulwa imilo, ngoxa omnye ezosulela i autosomal phawu lubalaseleyo. Leyo umntwana ozelwe ukuba isibini apho abazali abathwali pathogen, kodwa ngokwezonyango usempilweni.

Oku kuboniswa Ataxia odityanisiweyo ukonakala kwiikholam osecaleni kunye ngomva le umnqonqo, okubangelwa enzymatic kunye anomaly imichiza yendalo ayaziwa, xa ilifa. Xa esi sifo sichaphazela imiqadi Gaulle Clark iiseli neentsika angasemva indlela spinocerebellar.

"Imbali sifo"

isifo Ataxia Friedreich iye uqatshelwe ngohlobo elizimeleyo kwiminyaka engaphezu kwe-100 eyadlulayo, unjingalwazi isiJamani of Ataxia amayeza N. Friedreich kaThixo. Ukususela 1860s, esi sifo zisafundwa ngenkuthalo. Xa nokucingela kwenziwa ngo-1982 ukuba unobangela Ataxia na ukuphazamiseka ayo. Ngenxa yoko, endaweni igama eliqhelekileyo "Ataxia Friedreich kaThixo" elithi "isifo Ataxia Friedreich kaThixo" kuye kwandululwa njenge mpawu zikhombisa ubuninzi echanileyo ngakumbi izifo - luvo efana kunye extraneural.

iimpawu lwezempilo

Ukuba isigulana umntu Ataxia Friedreich kaThixo, iimpawu ezibonwayo isikakhulu yokuqala - kunzima kwaye awuqinisekanga xa nihamba, ingakumbi ebumnyameni, ukugxadazela, wakhubeka. Kule uphawu ujoyine discoordination amalungu aphezulu, ubuthakathaka kwemilenze. Ekuqaleni esi sifo angalutshintsha wesandla, dysarthria, intetho kuyenzeka explosiveness indalo, staccato.

Inhibition of ikhaliphe (umsipha nadkostichnyh) inokubonakalisa omabini ngexesha ukubonakala ezinye iimpawu, kunye elide phambi kwabo. Kunye ukuqhubela phambili Ataxia kunokwenzeka ngokuqhelekileyo ukuba bagcine areflexia iyonke. Olunye uphawu ebalulekileyo Babinski, hypotonia dystrophy, apha izihlunu umlenze ube buthathaka, uya yome.

obubonakala Abnerval of Ataxia kunye nezinye iimpawu

Isifo luphawulwa Ataxia skeletal deformation Friedreich yakhe. Izigulane ezithandwa zokufota, kyphoscoliosis, sengozini neminwe neenzwane. Ngoko-ebizwa stop fridreyhova (okanye ukuyeka Ataxia Friedreich kaThixo) - isifo elilungu Ataxia Friedreich kaThixo. Amafoto ngathi iinyawo ukunika ukuqonda ngokucacileyo ukuba loo deformation akukho okufana umzimba usempilweni: iminwe pererazognuty kwi proximal yokuhlasela kunye interphalangeal amalungu baphikele kwi arch eliphezulu phakathi senyawo. Utshintsho efanayo kunokwenzeka kunye zobuciko.

Kwakhona, izigulane kuxhomekeke izifo yonyango: ukuba abanezifo rhoqo ezifana neswekile, kwekhono ovarian, infantilism, okhawulezileyo, njl Ukususela ecaleni umbono cataract kunokwenzeka ..

Ukuba unesifo Ataxia Friedreich kaThixo, ezinye 90 ekhulwini lwamatyala kuya kukhatshwa ukusilela intliziyo, uphuhliso oluqhubela phambili cardiomyopathy, ingakumbi hypertrophic. Izigulane ezikhala intlungu entliziyweni, palpitation, dyspnea kwi ngamandla t. Phantse 50 D. ekhulwini lezigulane cardiomyopathy kukufa.

Ngasekupheleni ibakala sifo izigulane amyotrophy esiphawuliweyo, paresis, Kukwaphula iingalo uvakalelo. Kunokwenzeka ubuthulu, yoma optic, nystagmus, maxa wambi yoniwa umsebenzi amalungu zangasese kunye isigulane uphethwe kulibaziseka okanye, icala, ngumchamo. Ekuhambeni kwexesha, izigulane ungasakwazi ukuhamba ukuzinakekela ngaphandle uncedo. Kunjalo Ukukhubazeka nazo na ataxias uhlobo, kuquka isifo Ataxia Friedreich kaThixo mbaleko.

Ke ukuba sengqondo esixhalabisayo, xa izifo ezifana Ataxia cerebellar Ataxia Friedreich kaThixo, idatha echanekileyo ngalo okwangoku; abadala sengqondo esixhalabisayo kwenzeka, ichazwa abantwana njengoko inqabile kakhulu, ngokunjalo yokudodobala kwengqondo.

ukungaphili Ataxia

Ataxia Friedreich xa kwiimeko ezininzi nzima ukusilela intliziyo congestive, kwakunye nazo zonke iintlobo ukusilela sokuphefumla. Ukongeza, xa izigulane emngciphekweni omkhulu kakhulu zizifo yomhla nezolo.

Iikhrayitheriya isifo Ataxia Friedreich kaThixo

neenqobo eziphambili zokuxilonga esi sifo kubonisiwe kakhulu ngokucacileyo:

• ilifa sifo lwenzeka isici sofuzo;
• esi sifo uqala phambi kweminyaka engama-25, ngaphezulu - ebuntwaneni;
• Ataxia okuqhubekayo;
• areflexia tendinous, ubuthathaka kunye yoma kwemisipha enemilenze, nesandla kamva;
• Ukulahleka ubuzaza wokuqala yalityatya nzulu ngaphantsi, ngoko engasentla;
• intetho eluziziz;
• sengozini skeletal;
• iingxaki ezidalwe;
• cardiomyopathy;
• cataract;
• yoma ye umnqonqo.

Ngaloo DNA uphethwe siqinisekisa ubukho isakhi sinesiphene.

uphethwe

Xa kufikelelwa kwesi sifo njengoko Ataxia Friedreich kaThixo, uphethwe kufuneka ibandakanye imbali yezonyango, aqhube axilongwe ngokupheleleyo kwaye ukufunda imbali umguli kunye nosapho lwakhe. ingqalelo ekhethekileyo ihlawulwe kwiingxaki zoviwo kunye luvo, ezifana ukungaqini, umlenze ahambe, yaye xa befunda umntwana statics, ukunqongophala ingqondo kunye iminqweno kwamalunga. Isigulana akanako ukuyichukumisa umkhumbula engqinibeni idolo elahlukileyo paltsenosovoy isampulu uphethwe nongcangcazelo ngeengalo eyolukileyo.

Xa izifundo laboratory kukho lunyhasho acid acid ukutya.

Brain EEG e Ataxia Friedreich kaThixo ibhaqa Delta ehlasela kunye yeTHETA umsebenzi, ukuncitshiswa kwisingqi alpha. Xa electromyography luveze axonal-demyelinating izitshanguba Imisonto sensory luvo peripheral.

Ekufunyanisweni kwe yemfuza enesiphako, uvavanyo yemfuza ikhutshwa phandle. Ukusebenzisa DNA uphethwe lusekiwe amathuba ilifa pathogen nabanye abantwana entsatsheni. Kwakhona uxilongo DNA elukhuni yonke intsapho ekuLunyukisiweyo ngazo zinakho ukuqhutywa. Kwezinye iimeko, kwangaphambi DNA isifo.

Xa ekuxilongweni yaye kamva emva kokuxilongwa kufuneka isigulane ukwenza rhoqo X-reyi intloko, emqolo, esifubeni. Ukuba kuyimfuneko, atyumbe ikhompyutha kunye ngemagnethi ekuvakaleni kwelizwi Itomography. Kwi MRI yengqondo ke kuyabonakala yoma lwe umnqonqo kunye Isiqu ingqondo, amacandelo esisemantla vermis cerebellar. Kwakhona kufuneka uviwo usebenzisa ECG kunye EhoEG.

diagnosis umehluko

Xa lokufunyaniswa Ataxia Friedreich kukuba kuyimfuneko ukuba ezohlula sifo multiple sclerosis, amyotrophy umbefu, usapho onokukhubazeka kunye nezinye ataxias, ikakhulu isifo Louis - Bar, amaza Ataxia yesibini. Ukugula Louis - Bara, okanye telangiectasia, nayo iqala ebuntwaneni, kwaye uphawu ngokwezonyango bubukho Ataxia ukwanda iinqanawa ezincinane yegazi, ukungabikho ukungaqheleki skeletal isifo olubanzi Friedreich kaThixo.

Kwakhona ukuba zingahlukaniswa izifo syndrome Basso - Korntsveyga kunye Ataxia okubangwa ukuswela vitamin E. Kulo mzekelo, uxilongo kuyimfuneko ukujonga amanqanaba igazi vitamin E, ubukho / ukungabikho acanthocytosis uze uphonononge yayo lipid.

Ngexesha uphethwe kuyimfuneko ukuba ngaphandle izifo pathways kunye autosomal imo sofuzo abalilifa kuye, ekhatshwa Ataxia ezinye iintlobo olusukela-cerebellar.

Umahluko ukusuka Ataxia izifo multiple Friedreich kukho ukunqongophala imicu areflexia, xa kungekho amyotrophy kunye hypotension dystrophy. Kwakhona, xa wabona mpawu sclerosis abnerval, akukho lutshintsho kwi CT kunye MRI.

unyango Ataxia

Izigulane unesifo unyango Ataxia Friedreich kufuneka lwenziwe luvo. In ngaphezulu unyango ibonisa, ezijolise ekubonakalisweni ubuninzi ukurhoxiswa kwesi sifo. Oku kuquka unyango okubuyisela eziquka ekuqhubeni amalungiselelo ATP Cerebrolysin, iivithamini B, kunye arhente anticholinesterase. Ukongeza, yonyango Ataxia iziyobisi ezibalulekileyo kunye nokugcinwa umsebenzi ayo - ezifana succinic acid, riboflavin, vitamin E. Ukuphucula yokucolwa engabalulekanga emiselweyo Riboxinum, kokarboksilazu et al.

Eyenziwa unyango okubuyisela kunye iivithamini. Unyango kufuneka siphindwe ngamathuba athile.

Ekubeni oyena nobangela isentlungwini isifo - zokufota ngcembe, izigulane eboniswe enxibe corset wamathambo. Ukuba isibiyeli swi nga pfuna, iqela Iinkqubo zotyando (umqolo ifakiwe iintonga titanium ukuthintela uphuhliso olungaphaya zokufota).

Onke la manyathelo ziyilelwe ukugcina nomonde njengoko ixesha elide kwaye uyeke inkqubela esi sifo.

sezulu Ataxia

Ipredikshini kwezifo ezifana in nezinzima jikelele. izifo Neuropsychiatric bayaqhubeka kancinci, ixesha sifo yahluka kakhulu, kodwa ke kwiimeko ezininzi asidluli engama-20, 63% amadoda (nabafazi ALS kukholekileyo ngakumbi - emva kokuba lo ekuqaleni kwesi sifo phantse 100% kuphila ixesha elide ngaphezu kweminyaka engama-20).

Izizathu yokufa amaninzi intliziyo yaye ukusilela pulmonary, iingxaki kwezifo ezosulelayo. Ukuba isigulana awehlelwa seswekile kunye nesifo sentliziyo, ubomi bakhe ingahlala kwiminyaka ivuthiwe ubudala, kodwa iimeko ezinjalo zinqabile. Noko ke, ngenxa yonyango kwangumqondiso umgangatho kunye nobude bobomi izigulane ukwandisa.

ukuvimbela

Uthintelo Ataxia isifo Friedreich isekelwe phezu unyango neengcebiso and genetic.

izigulane Ataxia ubonisa iziko lonyango kwezemidlalo, sibonga ngalo izihlunu ziyomelela, ziyancipha discoordination. Uqheliso lomsebenzi kufuneka siqale swi kuqeqesho eseleyo kunye ukomelela kwezihlunu. unyango Physical kunye umthambo okulungisa ukuba izigulane ukuba isebenze ixesha elide kangangoko kunokwenzeka, ukongeza, kulo mzekelo, kuthintele uphuhliso cardiomyopathy.

Ukongeza, izigulane azikwazi ukusebenzisa izixhobo ukuphucula umgangatho wobomi - imisimelelo, ahamba, izitulo ezinamavili.

Ukusetyenziswa kwamandla kufuneka incitshiswe kwi-10 g ekudleni / kg, ukuze bangabaxhokonxi nophuculo sizuze ukutya amandla.

Kuyimfuneko ukuba siphephe izifo ezosulelayo, ukunqanda ukulimala ukunxila.

Enye into ebalulekileyo nokuthintela ukosuleleka zizifo Ataxia nokuthintela ilifa. Ukuba kunokwenzeka, kufuneka uphephe ukuzalwa abantwana ukuba imbali yentsapho Ataxia sifo Friedreich, yaye umtshato phakathi nezalamane.