Ataxia Series: Kuziva ataxias dzisingatarisirwi

Dr. Divyani Garg: Mhoroi, Orlando. Ndatenda nekundigamuchira. Zvinofadza kuva pano uye kukurukura nyaya yakakosha kudaro mukurapa.

Purofesa Orlando Barsottini: Divyani, mubvunzo wangu wekutanga. Unosiyanisa sei [00:01:00] sporadic kubva ku genetic ataxias padivi pemubhedha? Uye ndiudze nezvematambudziko ekuongorora aunowanzoona mukuongorora sporadic ataxia.

Dr. Divyani Garg: Ndiyo nzvimbo yakanaka yekutanga. Padivi pemubhedha ndinotarisa pazvinhu zvitatu, zera pakutanga, chimiro chenguva chekufambira mberi kwezviratidzo, uye nhoroondo yemhuri. Saka magene ataxias anowanzova nekutanga kusingatarisirwi. Anowanzova anowedzera zvishoma nezvishoma, uye dzimwe nguva tinowana zvimwe zvinhu zvetsinga zvakaita se, neuropathy, zviratidzo zvepiramidhi, matambudziko ekufamba, kuona. Zvakakoshawo kuyeuka kuti kusavapo kwenhoroondo yemhuri hakubvisi chikonzero chemajini, chinogona kukonzerwa nezvikonzero zvakasiyana-siyana, sekusvika pakusakwana, kuongororwa kusina kururama kwenhengo yemhuri, zviratidzo zvidiki mumhuri, kana kunyange kukura kwemhuri diki kana kuchinja kutsva.

Saka ataxias dzinoitika nguva nenguva, zviratidzo zveizvi ndezvekuti dzinowanzova nekutanga kwakasimba kusvika kusubacute kana [00:02:00] dzinogona kunge dzichikurumidza kufambira mberi, uye dzimwe nguva tinowana nhoroondo yezviratidzo zvemuviri kana nhoroondo yekusangana nemishonga, chepfu, izvo zvinogona kuva zviratidzo zvikuru. Uye zvimwe zvezvinetso zvakajairika zvinosanganisira, tichifunga kuti chirwere chisingaperi chinowanzoreva degenerative ataxia.

Izvi hazvisi zvechokwadi nekuti tinoziva kuti kune akawanda eaya ataxias asingawanzoitiki, nhoroondo refu inogona kunge ichiri chikamu chezvirwere. Imwe dambudziko nderekupotsa sensory ataxia wofunga kuti ataxia yese ipfungwa yecerebellar nekuti sensory ataxias ine zvikonzero zvakasiyana. Imwe dambudziko nderekuregeredza mishonga iyo murwere angave ari kushandisa uye asingaongorore zvakakwana zvikonzero zvekudzivirira muviri kana metabolism.

Saka musimboti mukuru ndewokuti usamboti chirwere chinoparara kana kuti chinogara nhaka usati wabvisa zvikonzero zvinogona kurapwa.

Purofesa Orlando Barsottini: Sezvamataura tine mapoka akawanda, mapoka akasiyana-siyana e-ataxias asingawanzoitiki, anosanganisira anotapukira, metabolic, uye autoimmune. Mungataurawo [00:03:00] zvakawanda nezvemhando dzezvirwere zvinorapwa here?

Dr. Divyani Garg: Ehe, Orlando. Zvechokwadi. Uye iyi ndiyo nyaya huru nekuti ataxia inongoerekana yaitika inofanira kugara ichitariswa nepfungwa yekuti inogona kurapwa kunze kwekunge zvaratidzwa kuti zvakasiyana. Saka zvikonzero zvinorapika, sezvamataura, zvinogona kupatsanurwa zvakanyanya muzvikamu zvinokonzerwa nekudzivirira muviri. Zvakakosha zvikuru mune izvi ianti-GAD associated ataxia, gluten ataxia, paraneoplastic cerebellar degenerations, zvikonzero zvinotapukira, zviri kuramba zvichikosha mune dzimwe nzvimbo dzepasi.

Semuenzaniso, ataxia iri kuitika munzvimbo ine HIV, syphilis, chirwere cheWhipple, uyezve hutachiona hweJC, izvo zvinogona kukonzera progressive multifocal leukoencephalopathy. Izvi zvinogona kuitika munzvimbo dzine immune compromised kana immune competent. Uye zvakare muvana, post-infectious cerebellitis inokosha, iyo inogona kutevera hutachiona hwakawanda, uye zvinokonzeresa metabolic uye kudya kunovaka muviri.

Ehe, tinofanira kugara tichiongorora kushomeka kwemavhitamini uye mamwe matambudziko e electrolyte. [00:04:00] Chepfu dzakakosha, kunyanya doro richiri kukonzera chirwere pasi rose. Asi zvakakoshawo kufunga nezvemimwe mishonga, kunyanya mishonga yekudzivirira kubatwa nechirwere, mishonga yekurapa kenza.

Uye chekupedzisira asi chisiri chidiki ndaizotaurawo zvikonzero zvakaita semabundu, sitiroko, zvirwere zvinobvisa myelination zvakaita se multiple sclerosis, nezvimwewo, nekuti izvi zvinogona kugadziriswa nekuvhiyiwa kana kurapwa. Saka kana ndikada kupfupisa nzira yekurapa ataxias isingarapiki, ndaizosimbisa zviratidzo zvitatu, hongu, subacute kana kuti inokurumidza kufambira mberi panguva, kuvapo kwezviratidzo zvemuviri kana zvekunze kweuropi, uye kusaenzana pakati pekuoma kwekiriniki nemifananidzo, izvo zvatingataura nezvazvo gare gare.

Purofesa Orlando Barsottini: Saka, vanachiremba vanofanira kufungira rini kuti chirwere checerebellar ataxia chinokonzerwa nemuviri? Uye ungataura here zvimwe zviratidzo zvekiriniki kana zve radiology zvekuongorora uku? Kunyanya immune mediated cerebellar ataxias. 

Dr. Divyani Garg: [00:05:00] Ehe, uyu mubvunzo wakakosha nekuti cerebellar ataxias inokonzerwa neimmune system inonyanya kubata nguva uye inogona kurapwa inokonzera kutaxia isingawanzoitiki. Kana tikapindira nekukurumidza mumamiriro ezvinhu aya, mhedzisiro yetsinga dzeropa inova nani nekuti kana cerebellar atrophy yaonekwa uye yasimbiswa, kuchinja kwetsinga kunowanzo kudzikira zvakanyanya.

Saka vanachiremba vanofanira kufungira kuti pane zvikonzero zvemuviri zvinokonzereswa nekudzivirira chirwere kunyanya kana kushanduka kwacho kuri kudiki, zvichireva kuti zviratidzo zvechirwere zvinoenderera mberi kwemavhiki mashoma kusvika kumwedzi mishoma. Saka murwere anogona kutaura nhoroondo yekuti aifamba zvakanaka mwedzi mitatu yapfuura, ngatitii, uye iye zvino ava kuda rutsigiro.

Saka izvozvo zvinofanira kukurumidza kukonzera kunetseka nezvechirwere chinogona kukonzera kudzivirirwa kwemuviri. Zvimwe zviratidzo zvinogona kuva kuvapo kwezvirwere zvemuviri kana zvemhuri. Semuenzaniso, panogona kunge paine nhengo yemhuri ine zvirwere zve autoimmune thyroid, chirwere cheshuga cherudzi rwekutanga, vitiligo, pernicious anemia, chirwere checeliac, nezvimwewo.

Uye kana uine zvimwe zviratidzo zvetsinga zvakaita sepfari, [00:06:00] myoclonus, stiff person syndrome, peripheral neuropathy, shanduko dzemaitiro. Zvese izvi zvinomutsa zviratidzo zvekiriniki zvekufungira kuti cerebellar ataxias inokonzereswa neimmune-mediated. Wakabvunzawo nezve radiology. Saka kubva pakuona kweradiology, pane dzidziso yakakosha yekuti MRI yeuropi inogona kunge yakajairika mumatanho ekutanga.

Saka, MRI yakajairika haibvisi zvikonzero zve immune system.

Purofesa Orlando Barsottini: Zvakanaka, zvakanaka. Divyani, dzimwe nguva gluten ataxia inyaya inokakavadzana. Ndezvipi zvinhu zvinoratidza kuti gluten ataxia uye mukuona kwako, ndeapi matambudziko akakosha ekuongorora nekurapa gluten ataxia?

Dr. Divyani Garg: Ehe, Orlando gluten ataxia ndeimwe yenzvimbo dzinonyanya kukakavadzana nezve ataxia isingawanzoitiki, sezvandinobvumirana nemi. Saka chaizvoizvo chirwere checerebellar chinokonzerwa nekudzivirira muviri, chinokonzerwa nekusagadzikana kwegluten [00:07:00] uye chinogona kuitika zvisinei nezviratidzo zvemudumbu. Kutaura zvazviri, varwere vazhinji vanogona kunge vasina zviratidzo zvechirwere checeliac.

Pakurapa munhu anogona kufungidzira kuti ane gluten ataxia mumunhu ane chirwere chepfungwa chinogara kwenguva pfupi, chinofambira mberi, chinonyanya kukonzera midline ataxia. Saka pane kufamba uye truncal ataxia, chirwere chepfungwa chinonzi cerebella syndrome, kana dzimwe nguva munhu anogona kunge aine peripheral neuropathy kana myoclonus.

MRI inogona kuratidza vermian predominant atrophy, asi sezvandakambokuudzai kare, kutora mifananidzo kwekutanga kunogona kunge kwakajairika. Saka zano rakanaka pano nderekutarisa MR spectroscopy yevermis, iyo inogona kuratidza kudzikira kweNAA/creatine ratio. Uye sezvamakataura, matambudziko acho akakura mu gluten ataxia.

Kuongororwa kwemasoja emuviri hakuna kukwana. Tinovimba nemasoja akawanda emuviri, uye pane gakava guru pamusoro pekuti ndeapi masoja emuviri anonyanya kukosha mutsinga dzemuviri kusiyana neanonyanya kukosha mudumbu. Uyezve kune varwere vangave vasina kana gluten, asi vane hanya zvikuru ne [00:08:00] nezve gluten. Saka izvi zvinogona kukonzera matambudziko ekuti totanga kudya kusina gluten here kana kuti kwete, uye hapana nzira dzakajairwa dzekuongorora gluten ataxia, saka izvozvo zvinogadzira dambudziko pacharo.

Purofesa Orlando Barsottini: Divyani, ikozvino ndine imwe pfungwa inokosha mukudzidza nezve ataxias. Ndeipi nzira yekurapa inotsanangura kuora kwecerebellar mu ataxia ine chekuita nekushaya kudya, uye ndeapi kushomeka kunowanzo furatirwa mukiriniki? 

Dr. Divyani Garg: Iyi inzvimbo inonakidza uye inokosha zvikuru. Saka cerebellum sezvamunoziva, kunyanya masero epurkinje, anoshanda zvakanyanya mukugadzirisa masero, uye anonyanya kukanganiswa nekushushikana kwemasero. Saka ma neuron aya ane hukama hwakakura hwe dendritic kana aine mwero wekupisa wakakwira, saka izvo zvinoita kuti anyanye kunzwa kusagadzikana kwemitochondrial, kushushikana kwe oxidative, kana chero imwe nzira yekushaikwa kwesimba.

Saka [00:09:00] kushomeka kwezvekudya kunowanzo kanganisa zvakananga kana zvisina kunanga nzira idzi. Zvimwe zvekushomeka kwezvekudya zvinowanzo konzerwa nekushomeka kwethymine kunogona kuitika panguva yekunwa doro kwenguva refu, asi izvozvo zvinozivikanwa zvikuru. Asi zvimwe zvekushomeka kusingawanzoitiki kana kusatariswa kungave kushomeka kwevhitamini B12, copper nevhitamini E, zvese zvinowanzo kukonzera sensory ataxia pane cerebellar ataxia. Uye chimwezve kushomeka kwakakosha, chatinofanira kufunga nezvacho kunyanya kana paine mamiriro ekurutsa kwenguva refu kana kushandisa proton pump inhibitor, kana kuvhiyiwa kweGI kungave kushomeka kwemagnesium. Zvino ichi ndicho chikonzero chakakosha checerebellar ataxia uko varwere vanogona kuratidza ataxia yakanyanya kazhinji ne downbeat nystagmus. Uye MRI inogona kuratidza kubatanidzwa kwakajairika kwe naus, kana kuti inogona kuratidza cerebellar vasogenic edema. Zvakakosha kuziva kushomeka kwemagnesium nekuti nekukurumidza kuwedzerwa kunogona kutungamira mukupora kukuru.

Purofesa Orlando Barsottini: Divyani, imwe pfungwa inokosha [00:10:00] mukusagadzikana kwepfungwa (sporadic ataxia) yakaoma zvikuru. Ndeapi ma "toxin" kana "drug ataxia" anokonzerwa nemishonga anowanzo furatirwa mumhedzisiro yekiriniki. Ndinotenda kuti iyi ipfungwa yakakosha zvikuru.

Dr. Divyani Garg: Ndinobvumirana newe zvizere nekuti ataxias inokonzerwa nemishonga uye chepfu inogona kunge yakajairika kupfuura zvatinoziva, uye inowanzo gadziriswa kana ikazivikanwa nekukurumidza. Saka zvechokwadi, kugara uchinwa doro nguva dzose zvakaoma kuregeredza, asi dzimwe nguva, varwere vanogona kuderedza kunwa. Saka zvakakosha kungwarira uye kutora nhoroondo isina mhosva.

Zvakakosha kuziva izvi nekuti zvinogona kukonzera kukuvara kwecerebellar zvachose, kuora kwecerebellar nekuda kwedoro. Asi maererano nemishonga, mimwe yemishonga inokosha yandinoda kutaura nezvayo mishonga yekudzivirira pfari. Saka tinoziva kuti mishonga yekare yekudzivirira pfari yakaita sepheno nebarbiturates, benzodiazepines, nezvimwe zvese izvi zvinogona kukonzera kupera simba kwecerebellar.

Uye dzinoramba dzichishandiswa munzvimbo dzakawanda [00:11:00] pasi rose. Saka kugara uchizviwana kwenguva refu kunogona kukonzera kupera simba kwemasero eropa zvachose. Asi kunyangwe pakati pemishonga mitsva yekurwisa kubatwa nechirwere yakaita segabapentin, pregabalin, lamotrigine, yakawanda yacho inozivikanwa nekukonzera ataxia, kudedera semhedzisiro.

Imwe mishonga yatisingafaniri kupotsa ndeye mishonga inorwisa mabhakitiriya, kunyanya metronidazole nekuti inowanzoshandiswa pakurapa hutachiona hwemudumbu uye kuwanda kwayo kunogona kukonzera subacute cerebellar syndromes. Uye dzimwe nguva tinosangana nemishonga yakaita se lithium, mishonga yekurapa kenza yakaita se cytarabine, uye mishonga inodzivirira immune checkpoint iri kushandiswa zvakanyanya kurapa kenza.

Uye mune mamwe mabasa, munhu anogona kuva ne heavy metal se mercury kana lead. Saka izvi zvinogona kunge zviri zvimwe zvezvikonzero zvisingatariswe, asi zvechokwadi zvinogona kugadziriswa nekukurumidza kana hutachiona hukadzikira.

Purofesa Orlando Barsottini: Uye Divyani, chirwere chepfungwa chinonzi [00:12:00] chinochinja sei nzira yekuongorora chirwere ichi, zvichienzaniswa, semuenzaniso, nechirwere chepfungwa chinonzi pure cerebellar syndromes?

Dr. Divyani Garg: Uyu mubvunzo unokosha zvikuru pakurapa nekuti kurasikirwa kukuru kweproprioceptive kunogona kutevedzera cerebellar ataxia. Asi zviratidzo zviripo zvinosanganisira kuwedzera kweataxia murima, kuvapo kwepseudo athetosis, uye zvakakosha, pachava nekuchengetedzwa kwemafambiro emaziso mukutaura nekuti aya maviri eparutivi anotungamirirwa zvakananga necerebellum.

Saka hatitarisiri kuti izvi zvingave zvisina kujairika mukusashanda zvakanaka kwenzira yekudzivirira. Zvidzidzo zvekufambisa tsinga zvakakosha, uye zvakakosha kusiyanisa zvakajeka zvekunzwa kwekiriniki kubva kuataxias yecerebellar nekuda kwerunyorwa rwezvikonzero zvepfungwa dzepfungwa. Saka zvikonzero zvakajairika muzvirwere zveropa, chirwere cheJordan, mishonga yechemotherapy, kushomeka kweb12, uye zviri kuramba zvichizivikanwa, zvirwere zvetsinga zvinotungamirirwa nemuviri zvakaita seneuropathies uye para neuropathies.

Saka kuziva sensory ataxia chaizvoizvo [00:13:00] kunoshandura kuongorora kwekuongorora kuenda kuzvikonzero zvekunze uye zvemuviri.

Purofesa Orlando Barsottini: Uye ndeapi matambudziko emuviri anokonzerwa ne autoimmune kana endocrine anofanira kugara achiunzwa senzira yekutsanangura dambudziko re sporadic ataxia?

Dr. Divyani Garg: Saka izvi zvinoenderana nemamiriro ezvinhu ekurapa, asi ndaizogara ndichiongorora kusashanda zvakanaka kwethyroid, ma antibodies e antithyroid, celiac serology, ma antibodies e anti-GAD, uyezve ma autoimmune markers, paraneoplastic markers, HIV serology uye B12 deficiency. Saka idzi bvunzo dzakachipa dzine mubereko wakakwira wekuongorora muvarwere vakasarudzwa.

Saka iyi ingave nzira iri nyore yekuongorora chirwere chekushaya simba kwemuviri (anparadic ataxia).

Purofesa Orlando Barsottini: Zvakanaka. Uye maererano nekurapwa, ndezvipi zviratidzo zvekiriniki kana zvebiomarker zvinofanotaura mhinduro ye immunotherapy mu autoimmune cerebellar ataxias, Divyani? 

Dr. Divyani Garg: Uyu mubvunzo unokosha zvikuru, Orlando, nekuti ndinongoda kutaura kuti nguva i cerebellum. Saka [00:14:00] patinotanga kurapwa nekukurumidza, pane mukana wekuponesa cerebellar reserve uye kuvandudza kushomeka kwetsinga. Zvinofanotaura mhinduro ye immunotherapy sezvawakabvunza, zvinosanganisira nguva pfupi yezviratidzo, kuvapo kweMRI zvishoma nezvishoma kuri kwakajairika pane MRI inoratidza cerebellar atrophy, kuvapo kwema antibodies epamusoro zvichienzaniswa nema antibodies e onco neural intracellular, uye zvechokwadi kutanga kurapwa nekukurumidza.

Purofesa Orlando Barsottini: Zvakanaka. Divyani, uyu ndiwo mubvunzo wangu wekupedzisira, pamwe ndiwo mubvunzo unonyanya kukosha. Ndeipi nzira yekuongorora chirwere che sporadic ataxia? Kuti chinorapwa hachina kunaka.

Dr. Divyani Garg: Ndinofunga uyu ndiwo mubvunzo mukuru. Saka nzira yangu yakarongwa ndeyekutanga ndasimbisa kana iri cerebellar ataxia kana kuti sensory ataxia, kana vestibular ataxia. Izvi zvingatsanangurwa nenhoroondo yakanaka uye kuongororwa kwekiriniki [00:15:00]. Sarudza chimiro chenguva uye kufambira mberi kwezviratidzo, kana zviri kukurumidza kufambira mberi, kana kuti zvishoma nezvishoma.

Wobva waongorora nhoroondo yekusangana nemishonga uye chepfu. Usakanganwa izvi nekuti dzimwe nguva izvi zvinoregeredzwa. Ita MRI yakanaka yeuropi. Unofanirawo kuedza kuona kana kupindira kweX-ray kuchienderana nehuwandu hwekubatanidzwa kwekiriniki, nekuti kana ukawana kusashanda zvakanaka kwekiriniki asi pasina kuwanikwa kwakawanda kweX-ray, ichocho chiratidzo chakanaka chekufunga nezve immune mediated ataxias.

Odhai kuongororwa kwakakosha murabhoritari sezvatakambotaura. Maitiro ekuita, mashandiro ethyroid, huwandu hwevhitamini. Wobva watevera bvunzo dze autoimmune para neoplastic kana hutachiona, zvichienderana nemamiriro ekurapa. Uyewo, fungai nezvekuongorora majini chete mushure mekunge zvikonzero izvi zvinorapika zvabviswa. Saka musimboti uri nyore, bvisai zvikonzero zvinodzokororwa musati manyora murwere ane chirwere chinopera simba.

Purofesa Orlando Barsottini: Zvakanaka. Tinotenda Divyani nekugovana pfungwa idzi uye tinotenda vateereri vedu nekubatana nesu. Tinovimba kuti chikamu chino chichakubatsirai kutarisana neataxias dzisina kujairika nekuvimba kukuru uye nemazvo. Tinotenda.

Dr. Divyani Garg: Maita basa Orlando.