Ataxia

Mhuri yakakwana uye nhoroondo yemunhu, kuongororwa kwemuviri, uye neuroimaging, pamwe nekuongororwa kwerabhoritari yakazara inogona kudiwa pakuongororwa kweataxic syndromes. Nekudaro, muzviitiko zvakawanda, etiology yeataxia inoramba isina chokwadi kunyangwe nekushanda kwakazara.

Zvikonzero zveataxia muhuduku, kuyaruka uye kukura zvakasiyana. Izvi zvinotevera mamwe mazano anopa chiremba zviri nani zviratidzo zvekuongorora. Muvana, zvikonzero zvinowanzoitika zveataxia zvinowanzoonekwa, kusanganisira Friedreich uye rondedzero yezvakaberekwa kukanganisa kwemetabolism kusagadzikana, sevana mafomu eGM2 gangliosidoses, uye sulfatide lipidoses (metachromatic leukodystrophy). Friedreich's ataxia inowanzoitika muvana uye muvakuru vechidiki, uye chirwere ichi chave chichitsanangurwa kune vanhu vakuru. Hereditary ataxia ine vhitamini E kushomeka, autosomal recessive disorder, inogona kuratidza nezviratidzo zvakafanana neizvo zvinowanikwa muFriedreich's ataxia. Abetalipoproteinemia ndechimwe chikonzero chinokonzeresa chekushaikwa kwevhitamini E ine chekuita neataxia, uye kuomarara kwechirwere kunoenderana nekushomeka uye kushaikwa kwevhitamini E. Kushaikwa kweVitamin 12 kunombovapo neataxia isingaperi, kazhinji ine chekuita nekurasikirwa kweprioception. Cerebrotendinous xanthomatosis (CTX) imwe isingawanzo, autosomal recessive lipid kuchengetedza kusagadzikana. Neurological zviratidzo zvinowanzotanga paanenge makore makumi maviri ezera uye cerebellar ataxia ndeimwe yezvimwe zviratidzo zvetsinga. Zvakabatanidzwa, zvisiri zvetsinga zvinosanganisira congenital/juvenile cataracts, tendon xanthomas (kunyanya yeAchilles tendons), premature atherosclerosis zviratidzo zvakasiyana zvinosiyanisa CTX kubva kune mamwe lipid kuchengetedza kusagadzikana. Ataxia-telangiectasia, chirwere ichi chisingawanzoitiki, chinofambira mberi chinokonzera kuora muuropi uye mamwe maitiro emuviri. Chirwere ichi chinokonzeresawo immune system kuparara (immunodeficiency disease), iyo inowedzera kubatwa nezvimwe zvirwere, kusanganisira kutapukirwa nemamota. Vana vane ataxia-telangiectasia vari pangozi yakakura yekuva nekenza, kunyanya leukemia kana lymphoma. Telangiectasias tsinga diki dzvuku dze "spider" dzinogona kuoneka mumakona emeso emurwere kana munzeve nematama. Kudzokorora sinus uye zvirwere zvekufema zvinowanzoitika. Vanhu vazhinji vane chirwere ichi vanoda wiricheya nevechiri kuyaruka uye vanofa vasati vasvika makore makumi matatu, kazhinji nekenza kana chirwere chemapapu (pulmonary).

Muvarwere vakura, autoimmune syndromes inosanganisira paraneoplastic syndrome (semuenzaniso, Anti Yo uye anti Hu) inogona kukonzera ataxia. Chirwere cheCeliac, chirwere che autoimmune chine anti-gliadin antibodies, chinogona kukonzera ataxia. Nekufambira mberi kweiyo tekinoroji nyowani, kuongororwa kweiyo genetic zvikonzero zveataxia zvave zvakaoma. Kune anopfuura 40 autosomal dominant ataxias, kusanganisira 7 inonyanya kukosha ataxias inokonzerwa neCAG inodzokorora encoding a polyglutamine protein domain (SCA 1, SCA2, SCA3, SCA6, SCA7, SCA17, DRPLA). Cerebellar ataxia uye cerebellar degeneration inowanzoitika kune marudzi ose, asi zvimwe zviratidzo uye zviratidzo, pamwe nezera rekutanga, zvinosiyana zvichienderana neiyo gene mutation.

Episodic ataxias (EA) iboka rezvisingawanzo uye rinotsanangurwa zvakanyanya kugarwa nhaka ataxias. Parizvino, kune 8 mhando dzeEAs. Pakati pavo, EA1 uye EA2 inonyanya kukosha. MuEA1, zvikamu zveataxia ine kusaenzana kwekufamba uye kusvetuka kwekutaura, zvinoitika zvega. Mhando iyi yeataxia inogonawo kuderedzwa nekufamba kamwe kamwe, kufara, kana kurovedza muviri. Kurwiswa kunowanzo tora kubva pamasekonzi kusvika kumaminitsi akati wandei panguva uye kunogona kudzoka kakawanda pazuva. MuEA2, ataxia inotora maawa kusvika kumazuva, ine interictal ziso kufamba kusina kunaka. Kushushikana kunowanzo mhanyisa zvikamu. EA2 zvakanyanya imhaka yekuremara kwemajini mune calcium chiteshi (CACNA1A). Kusiyana kwakasiyana kwemajini ejini iyi kunogona kukonzera mhuri hemiplegic migraine, uye kudzokorora kweCAG mujeni iri kunokonzera SCA6, uye kune kupindirana mune symptomatology. Hupenyu hurefu hahupfupiki muEAS, uye zviratidzo zvinogona kupindura kumushonga. Acetazolamide inogona kubatsira mukurapa episodic ataxia.

Kunyange zvazvo ataxia inogona kuonekwa nyore nyore, zvisinei, kuongororwa kwezvikonzero zvinokonzera kunoda kuongororwa kwakarongeka. Zvimwe zvirwere zvetsinga zvinogona kukonzera matambudziko akafanana nekufamba uye dexterity (semuenzaniso, neuropathy kana chirwere chemusana) zvinowanzosiyaniswa nezviratidzo zvetsinga chete. Mumamiriro ezvinhu akaoma, chinangwa chikuru ndechekuziva zviitiko zvinotyisidzira hupenyu. Muzvirongwa zvisina kunaka hapana algorithm iri nyore kana gwara rekutevera riripo. Kuziva nezveataxia kusagadzikana kuchabatsira varapi kuita nekukurumidza rabhoritari yakakodzera uye bvunzo dzekuongorora kuti vasimbise kuongororwa. Kuwana etiology dzimwe nguva ibasa rinotyisa mune mamwe mamiriro ezvinhu, asi mushure mokunge chinhu chinogumbura chabviswa mukuwana ataxia, kufambira mberi kwechirwere kunowanzomira uye murwere achapora. Nekupindira kwekutanga, kunyanya pazera diki, varwere vazhinji vanobhadhara zvakanaka uye vanongove nekusagadzikana kwakanyanya kana kusavapo zvachose.

Nokuda kwezvikonzero zvinokonzerwa neataxia, vamiririri vakawanda vakave vasina kufanana kuti vavandudze ataxia. Saka manejimendi anowanzo tsigira, izvo zvinogona kusanganisira kurapa kwemuviri, basa, uye kutaura.

Hubert Fernandez, MD
Center Director, Center for Neurological Restoration
Cleveland Clinic
Cleveland, OH USA

2019 Updates Inopihwa na:
Yih-Ru Wu, MD
Mutevedzeri Mukuru, Dhipatimendi reNeurology, Chang Gung Memorial Hospital, Linkou Branch, Taiwan
Purofesa, Chang Gung University College yeMishonga, Taoyuan, Taiwan