Ataxia Series: Bvunzo yeataxia - Phenomenology, kupatsanura, uye nzira inoshanda yekuongorora

Nhasi tiri kukurukura nezvenyaya iyi, bvunzo yeataxia, zviitiko, kupatsanura, uye gwara rekuongorora chirwere. Asi tinokutendai nekubatana nesu.

Dr. Bart van de Warrenburg: Mhoroi Orlando, ndatenda nekundigamuchira. Zvinofadza chaizvo kupawo pfungwa dzangu kunhevedzano iyi yepodcast [00:01:00] pamusoro peataxias.

Dr. Orlando Barsottini: Bart, sezvo tine marudzi akasiyana eataxias anosanganisira, semuenzaniso, cerebellar ataxias, sensory ataxias, uye dzimwe nguva musanganiswa wezvose zviri zviviri. Mungatiudzewo nezvemaitiro enyu ekurapa muchinyanya kutarisa pakuongorora kufamba uye phenomenology, ndapota.

Dr. Bart van de Warrenburg: Ehe. Varwere vazhinji vane chirwere checerebellar vanoona matambudziko ekufamba sechiratidzo chekutanga. Kana ukaona murwere ane gait ataxia, zvechokwadi, tinofanira kutanga taziva kuti izvi zvinobva kucerebellar cerebellar uye ndinofunga vanhu vanowanzo funga nezve cerebellar ataxic gait seyakasiyana.

Asi ichi chinhu chinotsiva chirwere chinozotanga gare gare. Uye chinonakidza ndechekuti zvinoitika pakufamba kweataxia [00:02:00] zvinochinja panguva yekufamba kwechirwere. Saka pakutanga varwere vanogona kunge vaine kufamba kwetandem kusingajairika uye pamwe vanozeza zvishoma mushure mekudzoka.

Uye zvinozotevera hazvisi zvinhu zvakafara, asi kusiyana. Kuchinja-chinja seshoko guru uye kusiyana muhurefu hwematanho nehupamhi hwematanho. Murwere anotanga kutsauka kubva pamutsetse wakatwasuka kuenda kumativi ese. Uye mamwe acho achava nekumhanya kwakanyanya. Uye ichi chinhu chinonakidza.

Unogonawo kutamba nekufamba. Bvunza varwere kana ukaona izvi kuti zvideredze kumhanya kana kuti zvideredze kufamba kwetandem zvishoma, zvichida. Uye gare gare uchaona kufamba kwakavakirwa pahupamhi hwetsoka uye kufamba kwacho kuchideredzera kumhanya. Uye dzimwe nguva kuomarara kwemabvi zvakare sechinhu chinotsiva.

Saka unoona mafambiro ekufamba neataxia sezvo chirwere chichienderera mberi uye [00:03:00] zvakabatana nekuchinja uku kwekuedza kuri kuita. Uye padanho rinotevera varwere vachafanira kushandisa michina inotsigira, zvikasadaro vachadonha nekuda kwematambudziko avo akakomba ekuenzanisa. Uye ndinofunga sezvamataura, kuti tinofanira kubvisa zvimwe zvinhu zve neuro anatomical zve ataxia, zvikonzero zvemanzwiro zvatichaita ongororo yakazara yemanzwiro toona zvinoitika negedhi rekuvhara maziso. Unoda kubvisa rudzi rwemberi rwe ataxia kana izwi remazuva ano, chirwere chekufamba chepamusoro umo iwe unotarisira matambudziko asina kuenzana anowanzo kuve nekuchinja kwepfungwa. Uye chekupedzisira ndinofunga mavambo e vestibular umo varwere vanotevera kuva nenyunyuto dzakadai sedzungu, nezvimwewo, vachave nekutsauka kwekufamba kazhinji kune rumwe rutivi nguva dzose.

Uye tichazofanira kutsvaga zvimwe zviratidzo zvecerebellar mune imwe bvunzo yasara. Uye ndinofunga kuti vazhinji vedu se [00:04:00] nyanzvi dzezvirwere zvekufamba dzinoshandisa nguva yakawanda nesimba pakuongorora mafambiro emaziso uye chirwere checerebellar. Semuenzaniso, unotarisira kuwana kusagadzikana kwe fixation, square wave jerks, jerky pursuit, gaze-evoked kana downbeat nystagmus, uye hypermetric saccades.

Pamwe unogona kunzwa cerebellar dysarthria, kutaura uchiongorora, uye kuona kuti makumbo ako ekumusoro anonzwa sei kana paine dysmetria uye kudengenyeka kwechinangwa.

Dr. Orlando Barsottini: Bert nyaya yekupatsanura ataxias dzimwe nguva haisi pachena, kunyanya kune vasina nyanzvi. Mungataura zvakawanda here nezvekupatsanura ataxias, ndapota?

Dr. Bart van de Warrenburg: Kune mazana ezvirwere zvinogona kukonzera ataxia uye ndinofunga kuti kwave nekuyedzwa kwakawanda kwekuisa ataxia muzvikamu kubva pamaonero ekushanda kana ekutsvagisa. Izvi zvinozoonekwa kuti zvakaoma uye zvechinyakare zviri nyore se [00:05:00]. Ini pachangu ndinoshandisa hurongwa huri nyore kwazvo hunonditungamira mukufunga kwangu uye kudzidzira kwangu.

Saka ndinoparadzanisa mapoka matatu makuru eataxias. Saka tawana ataxias, tine genetic ataxias, uye tine non-genetic degenerative ataxias. Semuenzaniso, cerebellar type multiple system atrophy. Nekudaro, ndinofunga kuti kune genetic ataxias, boka rekudzidza reMDS pamazita e genetic ekufamba kwezvirwere rakaita basa rakanaka kwazvo mukunyora majini eataxia akasimbiswa.

Asi vazhinji vedu tichiri kushandisa mazwi ekare, semuenzaniso, SCA pakutaura nezve ataxias inotonga. Ndinofunga kuti ndizvo zvazviri, asi zvakare, ndinoda kutaura nezvehurongwa hwangu hwakareruka senzira yekupa gwara mune zvatinofunga uye zvatinoita patinosangana nemurwere ane ataxia.

Dr. Orlando Barsottini: Bert sezvamakataura isu tine marudzi akasiyana eataxia anosanganisira acquired genetic neasiri egenetic. Ndine mibvunzo miviri ikozvino, ndeipi nzira yekuongorora yauri kupa kune aya marudzi akasiyana eataxia uye chii chingave kukosha kwekuongororwa kwakawedzerwa senge brain MRI, CSF, uye PET scan, kupatsanurwa kwese uye kuzivikanwa kwemarudzi akasiyana eataxia?

Dr. Bart van de Warrenburg: Ehe. Orlando, ndizvozvo.

Kutanga nechikamu chako chechipiri, pamwe, ndinofunga kuti kuferefeta kwese kunofanira kushanda nechinangwa uye muchiitiko ichi, kuedza kuwana chirwere chemurwere. Saka handisi kuita zvinangwa zvekuisa muzvikamu kunze kwekunge kuri kwekuedza kwekutsvaga. Zvichienderana nezvimwe zvirwere zvekufamba.

Ini ndinofunga kuti nhoroondo inokosha chaizvo uye zvinhu zviri munhoroondo zvichatungamira musiyano wedu zvikuru. Saka zvinhu zvakaita sezera rekutanga kana mwero wekufambira mberi, [00:07:00] mhuri, nhoroondo yezvekurapa, mishonga iripo, nezvimwewo, zvakakosha zvikuru. Kazhinji, ndinofunga kuti tinofanira kuyeuka kuti zvikonzero zveataxia zvinowanikwa ndizvo zvinonyanya kuitika.

Uye chandinonyanya kushandisa pazvinhu izvi munhoroondo imhando yekufambira mberi, mwero wekufambira mberi. Saka kana izvi zviri zvekukurumidzira kana kuti zviri pasi peganda, chikonzero chacho chingangowanikwa uye uchaita MRI. Uchabvisa mishonga, zvinokonzera metabolic, kutarisa perineal neoplastic, kana zvimwe zvirwere zvinokonzerwa neimmune system, funga nezve prion nezvimwewo.

Chikamu chechipiri chinonakidza chekufambira mberi kwezviratidzo ndechekuti ataxia iri nguva nenguva chete. Nekuti kana zvakadaro, huwandu hwemapoka akasiyana ekuongorora hushoma nekuti kazhinji izvi zvinogona kunge zviri chimwe chinhu chinodzivirira muviri, semuenzaniso, ma antibodies e-anti-GAD kana anti-CASPR2. Kana kuti majini, [00:08:00] seSCA27B kana 1A nezvimwe.

Ini ndinofunga kuti chikamu chinonyanya kunetsa idambudziko rekuti ataxia inofambira mberi zvishoma nezvishoma. Uye ipapo, kana uine nhoroondo yemhuri, izvi zvichabatsira zvikuru uye unogona kusvetukira kumajini ako, ndinofunga ipapo ipapo. Asi kana zvisina kudaro, unosara uine dambudziko iri risingawanzoitiki, rinofambira mberi zvishoma nezvishoma. Uye ipapo uchiri nedambudziko guru iri rinofukidza mapoka ese matatu atakurukura.

Uye ndinofunga kuti mumamiriro ezvinhu akadaro, tichatangawo nekukumbira kuongororwa kweMRI, kubvisa zvirwere zvakawanikwa uye kutsvaga zviratidzo zvinoratidza chirwere chisingawanzoitiki. Tichaita bvunzo shoma dzeropa kuti tibvise zvikonzero zvakawanikwa zvakaita se anti-GAD nemavhitamini, nezvimwewo. Uye tobva taitawo majini muboka iri re ataxias dzinongoerekana dzaitika, dzichifambira mberi zvishoma nezvishoma.

Uye pano tinoda kuva nechokwadi chekuti tine mukana wekuyedza majini nekudzokorora kuwedzera senzira yekuchinja. Aya ndiwo anonyanya kushandiswa, [00:09:00] uye ndinofunga kuti ma laboratori mazhinji achiri kuita izvi semiedzo yakasiyana. Saka zvaunokumbira, iva nechokwadi chekuti maedzo ekuongorora kuwedzera uku.

Izvi zvichachinja kana tese tikakwanisa kuwana nzira dzekuverenga kwenguva refu mune ramangwana. Kana kudzokorora kuri negative, unogona zvakare kutsvaga mamwe majini eataxia asingadzokororwe kana uchikwanisa kuwana mapuratifomu ekutevera echizvarwa chinotevera. Uye kana majini ari negative, ndinofunga danho rinotevera nderekufunga kana murwere wako ane ataxia inofambira mberi zvishoma nezvishoma, isingawanzoitiki anogona kunge aine cerebellar subtype yeMSA. Uye ndinofunga kuti zvinodiwa zve2022 MDS zvinobatsira zvikuru kutarisa nekuti ndinofunga kuti zvinodiwa izvi zvichakutungamira kuburikidza nekuongorora kuti uone kana murwere wako akaziva kana MSA chaiyo kana kuti angangove aripo. Uye kana zvisiri, saka kuongororwa kwako kwekupedzisira kuchava sporadic adult beginning ataxia kana izwi rekare, idiopathic late beginning ataxia, ILOCA.

Uye ndinofunga kuti unofanira kutevera varwere ivavo nekuti, majini matsva [00:10:00] achabuda uye zvingabatsira kuongorora varwere vako zvakare. Uye ndinofunga kuti kuwanikwa kweSCA27B munguva pfupi yapfuura kuri muenzaniso wakanaka nekuti izvi zvinotsanangura vazhinji vevarwere vatakamboti iILOCA. Uye ndinofunga kuti unofanira kuziva kuti varwere vachiri kukwanisa kutendeukira kuMSAC uye pane chikonzero chekuti varambe vachitevera.

Dr. Orlando Barsottini: Zvakanaka, Bart ikozvino ndine mumwe wemibvunzo yakanyanya kukuomera. Munguva itsva yetekinoroji uye AI nekuongorora majini zvava kuwanikwa, unofunga kuti hunyanzvi hwekiriniki huchava nenzvimbo mukuongorora varwere vane 

Dr. Bart van de Warrenburg: Ehe, zvechokwadi. Mubvunzo wakaoma, Orlando, asi mhinduro yangu yakajeka. Uyu ndihongu. Ndinoziva kuti kune vanhu vanokurudzira nzira yekutanga ye genotype. Ini pachangu handisi mutsigiri we [00:11:00]. Ndinotenda zvakasimba kuti unoda phenotype yakanaka, yakasimba uye yakati kuti upinde muma genetics. Uye chikonzero ndechekuti kuongororwa kwema genetic kunowanzo tungamira kune imwe shanduko isina kukosha kunozivikanwa.

Uye kana uine phenotype isina chokwadi pakutanga uye yakakura kubva mumajini ako. Saka uri mudambudziko. Saka ndinofunga kuti phenotype yakanaka yekutanga nayo ndiyo yakakosha. Uye chimwe chinhu chandinoda kutaura ndicho chatave tichiti reverse phenotyping. Saka kana ukawana mhedzisiro yebvunzo yemajini, unoda kuva nechokwadi chekuti izvi zvinogona kuenderana ne phenotype yemurwere.

Pakurapa uye kana pa radiology. Uye kuti uite izvi, unofanirwa kunge waita ongororo yakazara nekuti akawanda ematambudziko e ataxia anoratidzwa nezviratidzo zvisina ataxia. Funga nezve ataxia pamwe neuropathy kana spasticity kana dystonia. Uye aya maitiro asina ataxia [00:12:00] anogona kusiyanisa zvakanyanya uye kukubatsira mukuita uku kwe reverse phenotyping.

Kune rumwe rutivi ndinofunga kuti machine learning AI ichave ruoko rwedu rutsva rwerudyi mubasa redu, basa rekiriniki uye basa resainzi. Uye semuenzaniso, tiri kuona ongororo yekufamba uye kusagadzikana kwekutaura kwakavakirwa pakudzidza kwemuchina iyo inogona kuyera nekutevera mamiriro echirwere uye kufambira mberi kwechirwere.

Uye izvi tinogona kuzvishandisa mumiedzo yekiriniki iri kubuda. Saka pane nzvimbo yekudzidza kweAI muchina munzira yedu yeataxia mumakiriniki, muongororo, kuti chii chichave pedyo uye pamwe chete navanachiremba nemasayendisiti.

Dr. Orlando Barsottini: Zvakanaka. Kunyanya, ndinofara zvikuru nemhinduro yenyu. Tava kusvika kumagumo ekubvunzurudzwa kwedu. Uye zvino chii chiri kutaurwa nevateereri vedu [00:13:00] kumba?

Dr. Bart van de Warrenburg: Shoko randinofanira kutora kumba nderekuti, chengetedza hunyanzvi hwako hwekurapa. Ita ongororo yakazara yetsinga dzemuviri mumurwere uye shanda nesimba, kunyanya mukuedza kuziva kwakabva chirwere chekufamba chauri kusangana nacho. Tamba nekufamba. Ziva kuti kufamba neataxia chinhu chinochinja-chinja uye tamba nezvinhu zvinotsiva.

Semuenzaniso, mukugadzirisa kumhanya kwebasa rekufamba uri kukumbira murwere kuti aite. Uye chinhu chakanaka ndechei, Orlando, ndichiri kudzidzawo ini pachangu. Saka, ndave ndichigadzirisa nhoroondo yangu yetsinga ndichitora nekuongorora panguva yerwendo. Uye semuenzaniso, makore mashoma apfuura, jini reCANVAS syndrome, senge cerebral ataxia neuropathy uye vestibular areflexia syndrome, rakawanikwa richikura muRFC1. Uye zvichibva pane izvo tsananguro dzephenotypic, ndaive ndichiwedzera mubvunzo pamusoro pekukosora kusingaperi munhoroondo yangu uye ndichiwedzera kuti, ndaive nemiedzo ye [00:14:00] yekuzvimba pakuongorora kwangu.

Saka meseji yechipiri ndeyekuti musarega kudzidza.

Dr. Orlando Barsottini: Zvakakwana. Tinotenda Bart nekugovana ruzivo urwu uye tinotenda vateereri vedu nekubatana nesu. Tinovimba kuti chikamu chino chichakubatsira kutaura nevarwere veataxia nechivimbo uye nekurapwa kwakawanda.