Friedreich a Ataxia: Zizindikiro, Matendawa ndi Chithandizo

Ataxia - matenda, akuwonetseredwa mu incoordination kayendedwe, motility chisokonezo ena kuchepa mphamvu malekezero. mtundu - banja Friedreich a ataxia, ambiri mawonekedwe ataxias cholowa. Kumachitika pakati pa 2 ndi 7 pa 100 000.

Matendawa nthawi zambiri amayamba ana, pa 1-2 TH khumi moyo (ngakhale pali milandu kumene anapezeka patatha zaka 20). Ataxia zambiri amadwala anthu angapo banja - abale, alongo, ndipo nthawi zambiri amapezeka mu mabanja ndi ukwati blooded. Zizindikiro kuonekera msanga, matendawa pang'onopang'ono, kumatenga zaka zambiri ndipo kumabweretsa mavuto osiyanasiyana popanda thandizo kuchipatala.

Zizindikiro za matendawa

Mbali yaikulu ya ataxia Friedreich a - chosadziwika gait wodwala. Iye amayenda awkwardly amaika mapazi ake lonse ndipo ankatha kumbali kuchokera pakati m'mbali. Pamene matenda ili m'kati, imfa ya mgwirizano poyera mikono ndi akatumba a chifuwa ndi nkhope. Nkhope akuti kusintha izo kubweza pansi, kumakhaladi jerky. Kuchepetsedwa kapena kutha tendon ndi bongo periosteal (woyamba wapansi, kenako kufalikira ku manja). khutu akutsikira pafupipafupi. Kupindika msana m'kati.

Zimayambitsa matenda

Mtundu wa ataxias - cholowa, aakulu mtundu, mwapang'onopang'ono khalidwe. Izi zikufanana ndi ataxia spinocerebellar, omwe ndi gulu ofanana ndi zizindikiro za matenda oyamba ndi zotupa za cerebellum ndi, brainstem, msana ndi misempha msana, nthawi zambiri zina ndi matenda enieni. Komabe, pakati cerebellar ataxia recessive matenda yodziwika ndi mawonekedwe, pamene winayo opatsirana monga autosomal lalikulu khalidwe. Kuti ndi mwana wodwala anabadwira ku banja limene makolo ali ndi tizilomboto, koma kukomoka wathanzi.

Izi anawonetseredwa ataxia ophatikizana alibe wa lateral ndi zapambuyo mizati chingwe msana, chifukwa enzymatic ndi mankhwala anomaly zachilengedwe osadziwika, ndi akatengela apabanja. Pamene matendawa amakhudza matabwa Gaulle Clark maselo zipilala kumbuyo spinocerebellar njira.

"Mbiri ya matenda"

matenda ataxia Friedreich akhala anatsindika mu mawonekedwe osadalira pa zaka zoposa 100, a German pulofesa wa ataxia mankhwala N. Friedreich a. Kuyambira 1860s ndi, matenda afufuza mwachangu. Kamodzi mfundo anapangidwa 1982 kuti chifukwa cha ataxia ndi matenda kwa mayitirokondiriyoni. Motero, m'malo dzina wamba "Friedreich a ataxia" Mawu akuti "matenda ataxia Friedreich a" wakhala akufuna monga zolondola chinyezimiro multiplicity kuwonekera kwa matenda - ubongo ngati ndi extraneural.

zizindikiro minyewa

Ngati wodwalayo ataxia Friedreich ndi zizindikiro zimene waona zambiri choyamba - zimakhala zovuta ndipo sadziwa poyenda, makamaka mu mdima, akuzandima, chokhumudwitsa. Kuti chizindikiro ichi agwirizane discoordination miyendo m'mwamba, kufooka kwa minofu mwendo. Pa chiyambi cha matenda mwina kusintha cholembedwa, dysarthria, kulankhula amapezeka mu chikhalidwe explosiveness, staccato.

Chopinga wa bongo (tendon ndi nadkostichnyh) zingaoneke onse pa kuoneka zizindikiro zina, ndi kale iwo. Ndi kupitirira wa ataxia zambiri zotheka kusunga okwana areflexia. chizindikiro china n'kofunika Babinski, akulu hypotonia, hereinafter mwendo minofu kukhala ofooka, adzakhala manja.

mawonetseredwe Abnerval wa ataxia ndi zizindikiro zina

Matendawa ali ndi makhalidwe ataxia chigoba mapindikidwe Friedreich a. Odwala sachedwa kupindika msana, kyphoscoliosis, deformities zala ndi zala. Otchedwa amasiya fridreyhova (kapena kusiya ataxia Friedreich a) - matenda Mbali a Friedreich a ataxia. Photos ngati mapazi kupereka kumvetsa bwino kuti mapindikidwe si mmene thupi wathanzi: zala pererazognuty mu proximal phalanx ndi interphalangeal mfundo ndichotse pa mkulu concave Chipilala phazi. Kusintha chomwecho zingachitike ndi maburashi.

Komanso, odwala imvera matenda endocrine: ali matenda pafupipafupi monga matenda a shuga yamchiberekero kukanika, infantilism, hypogonadism, etc. Kuchokera mbali ya view la mathithi zotheka ..

Ngati anapezeka ndi ataxia Friedreich wina, 90 peresenti ya zoterezi Adzatsagana ndi matenda a mtima, vutoli chitukuko cha cardiomyopathy, makamaka hypertrophic. Odwala amadandaula ululu mu mtima, palpitation, dyspnea pa thukuta, komanso T. D. Pafupifupi 50 peresenti ya odwala cardiomyopathy zimayambitsa imfa.

Mu siteji mochedwa wa matenda odwala ndi amyotrophy Amowabu, paresis, kuyan'anila za tilinazo manja. Zotheka kumva imfa, chamawonedwe manja, nystagmus, nthawi zina linaphwanya ntchito ziwalo m'chiuno ndi mtima amadwala akuchedwa kapena, Tikawonetsetsa incontinence. M'kupita kwa nthawi, odwala kutaya luso kuyenda ndi kudzisamalira popanda thandizo. Komabe ziwalo nawo pa ataxias aliyense mawonekedwe, kuphatikizapo matenda ataxia Friedreich anali anaona.

Koma maganizo, pamene matenda monga ataxia cerebellar ataxia Friedreich a deta yolondola pa iwo apobe: akuluakulu maganizo zachitika, limafotokoza ana n'kovuta kwambiri, komanso retardation maganizo.

zosokonezeka ataxia

ataxia Friedreich wa nthawi zambiri ndi kobvuta ndi kulephera congestive mtima, komanso mitundu yonse ya kulephera kupuma. Komanso, odwala ndi chiopsezo kwambiri matenda kobwereza.

Yosayambitsa kwa matenda a ataxia Friedreich a

Kiyi i matenda matendawa ananena momveka bwino ndithu:

• cholowa cha matenda kumachitika recessive khalidwe;
• matenda kunayamba kale zaka 25, nthawi zambiri - paubwana;
• mwapang'onopang'ono ataxia;
• tendinous areflexia, kufooka ndi manja a minofu ya miyendo, ndi dzanja mtsogolo;
• Kuchepa kwa tilinazo choyamba kwambiri m'munsi nthambi, ndiye chapamwamba;
• kulankhula amaona;
• chigoba deformities;
• matenda endocrine;
• cardiomyopathy;
• ng'ala;
• manja a chingwe msana.

Choncho DNA matenda akutsimikiza pamaso pa jini zosalongosoka.

matenda

Pankhani matenda monga ataxia Friedreich ndi, matenda pazikhalanso mbiri dokotala, kuchititsa kufufuza zonse zachipatala komanso kuphunzira mbiri ya wodwalayo ndi banja lake. chidwi linaperekedwa kwa mavuto Kupenda ndi wamanjenje dongosolo, monga muyezo osauka, gait, ndipo pamene akuphunzira statics mwana, kusowa bongo ndi zomverera mu malo. Wodwalayo sangathe kukhudza zosiyana chigongono bondo angamachite pa paltsenosovoy chitsanzo amavutika kugwedeza ndi mikono lotambasula.

Mu maphunziro zasayansi pali kuphwanya kagayidwe kwa amino acid.

Brain akugwirira mu ataxia Friedreich a detects akakufunsani ankadziwana ndi ntchito theta, kuchepetsa Alefa mungoli. Pamene electromyography anaulula axonal-demyelinating zotupa za imalandira zotumphukira ulusi mitsempha.

Pakuti kudziwika majini zosalongosoka, kuyezetsa majini ikuchitika. Kugwiritsa matenda DNA ndi kukhazikika kuthekera cholowa tizilomboto ana ena m'banja. Komanso zovuta diagnostics DNA banja lonse angathe kuchitidwa. Nthawi zina, kuti akalandire chithandizo DNA matenda.

Pamene Kupeza Vuto ndipo kenako pambuyo matenda wodwala chofunika kuti zonse X-ray kwa mutu, msana, chifuwa. Ngati ndi kotheka, tisonyezeni kompyuta ndi kumveka maginito tomography. Pa Kujambula ubongo kenako kuonedwa manja a chingwe msana ndi ubongo tsinde, zigawo kumtunda kwa vermis cerebellar. Komanso muyenera Kupenda ntchito ECG ndi EhoEG.

matenda masiyanidwe

Pamene matenda a ataxia Friedreich n'kofunika kusiyanitsa matenda kuchokera ofoola ziwalo, amyotrophy ubongo, paraplegia banja ndi ataxias ena, makamaka matenda Louis - Bar, wachiwiri pafupipafupi ataxia. Matenda Louis - Bara, kapena telangiectasia, komanso kumayambira usamakhale amakhala kukomoka ndi kukhalapo kwa matenda yaikulu Friedreich a ataxia patsogolo ziwiya kakang'ono ka magazi, kusowa kuvutika chigoba.

Komanso kulekanitsidwa kwa matenda syndrome Besi - Korntsveyga ndi ataxia chifukwa cha kuperewera kwa vitamini E. Choncho, matenda n'kofunika kudziwa kuchuluka kwa magazi vitamini E, pamaso / pakalibe acanthocytosis tizidziwe ake zamadzimadzi.

Pa nthawi ya matenda m'pofunika kuti achotse matenda kagayidwe kachakudya ndi autosomal recessive akafuna cholowa pamodzi ndi sapota-cerebellar ataxia mitundu ina.

Kusiyana kwa ataxia matenda angapo sclerosis Friedreich ndi kupanda tendon areflexia, pamene palibe amyotrophy ndi akulu hypotension. Komanso, pamene anaona zizindikiro abnerval sclerosis, palibe kusintha pa CT ndi Kujambula.

ataxia chithandizo

Odwala matenda ndi ataxia chithandizo Friedreich ziyenera kukhala ndi matenda okhudza ubongo a. Mu kwambiri mankhwala symptomatic, umalimbana pazipita achire kuwonekera kwa matenda. Pamafunikanso mankhwala zobwezeretsa chikukhudza kugwiritsira kukonzekera ATP Cerebrolysin, mavitamini B, ndi wothandizila anticholinesterase. Komanso mankhwalawa ataxia ndi mankhwala zofunika ndi kukonza za ntchito kwa mayitirokondiriyoni - monga asidi succinic, riboflavin, vitamini E. Kuonjezera m'mnyewa wamtima kagayidwe Kwalamulidwa Riboxinum, kokarboksilazu neri Al.

Anachita chithandizo zobwezeretsa ndi mavitamini. Chithandizo ayenera kubwereza nthawi.

Popeza chifukwa chachikulu mu ululu matenda - mwapang'onopang'ono kupindika msana, odwala wasonyeza atavala corset mafupa. Ngati kulimba si kuthandiza angapo popanga munthu opaleshoni (msana anaikapo ndodo titaniyamu kuteteza pofuna kukwaniritsa kupindika msana).

zonsezi onse zoti achite mtima monga nthawi yaitali ndipo mukhoza kusiya patsogolo matenda.

Mapa ataxia

Ulosi wa matenda onse akumane. matenda Neuropsychiatric mukuyesetsa pang'onopang'ono, nthawi ya matenda zimasiyana, koma nthawi zambiri si upambana zaka 20, 63% ya anthu (akazi madokotala ananena zawo bwino kwambiri - pambuyo isanayambike matenda ndi pafupifupi 100% amakhala moyo wautali kuposa zaka 20).

Zimayambitsa imfa nthawi zambiri mtima ndi kulephera m'mapapo mwanga, zosokonezeka matenda opatsirana. Ngati wodwala safuna amadwala matenda a shuga ndi matenda a mtima, moyo wake ukhoza mpaka m'badwo kucha lakale, koma Zikatero n'zochepa. Komabe, chifukwa mankhwala symptomatic wa khalidwe ndi nthawi ya moyo odwala achuluke.

kupewa

Kupewa ataxia matenda Friedreich n'ngozikidwa pa uphungu kuchipatala ndi chibadwa.

Ataxia odwala amasonyeza masewera pakati zachipatala, chifukwa chimene minofu amalimbikitsidwa, yafupika discoordination. Zochita ayenera makamaka kuyang'ana pa kuphunzitsa bwino ndi minofu mphamvu. mankhwala thupi ndi ntchito kukonza kulola odwala kugwira ntchito ngati n'zotheka, kuwonjezera, mu nkhani iyi, chinalepheretsa chitukuko cha cardiomyopathy.

Komanso, odwala akhoza ntchito othandiza kusintha khalidwe lawo la moyo - atali, sasinthasintha, njinga.

The mowa mphamvu ayenera kusanduka 10 ga zimam'patsa / kg, kuti imfayo chilema kuwongola wa kagayidwe mphamvu.

M'pofunikanso kupewa matenda opatsirana, kupewa kuvulala ndi kuledzera.

Chinthu china chofunika kwambiri ndi kupewa matenda HIV kupewa ataxia tinatengera. Ngati nkotheka, muyenera kupewa kubadwa kwa ana ngati mbiri banja la ataxia matenda Friedreich, ndipo ukwati pakati pa abale.