Ataxia Series: Kupfuura cerebellum - Zvimiro zvisiri zvemota uye kutarisirwa kwesystem dzakawanda mu genetic ataxias

Nhasi tiri kukurukura nezvenyaya iyi kunze kwe cerebellum, zvinhu zvisiri zvekufamba kwemuviri, uye zvese zviri zviviri kutarisirwa kwemuviri mu genetic ataxias. Chris, tinotenda nekubatana nesu.

Dr. Christopher Stephen: Mhoroi Orlando. Ndatenda nekundigamuchira, uye zvinofadza kukuonai mushure mekubudirira kwedu [00:01:00] muHouston paMDS-PAS.

Purofesa Orlando Barsottini: Zvakanaka. Chris mubvunzo wangu wekutanga, tinoziva zviratidzo zve ataxia, asi zviratidzo zvisiri zvekufamba kwemuviri zvinowanzoonekwa zvishoma uye hazvishumwi zvakanyanya. Ndezvipi zviratidzo zvisiri zvekufamba kwemuviri izvo varwere nevanachiremba vanofanira kuziva?

Dr. Christopher Stephen: Zvechokwadi. Ndiri kureva kuti, inzvimbo yakakosha zvikuru uye zvisingashamisi, zvakafanana nedzimwe mafambiro asina kunaka sechirwere cheParkinson, majini eataxias anobatanidzwa nezviratidzo zvakasiyana-siyana zvisiri zvemuviri, izvo zvinogona kunetsa, zvinokanganisa hupenyu. Zvinokanganisa zvakanyanya hupenyu. Zviratidzo zvepfungwa uye zvepfungwa zvinowanikwa zvakanyanya uye izvi zvinowanzoitika mushure mekutanga kweataxia uye gare gare muchirwere.

Kunyangwe paine mamwe ma ataxias akadai seSCA48 uko izvi zvinogona kuva chiratidzo chekutanga, ichocho chinhu chekuchenjerera. Kushanda kwepfungwa kunowanzoenderana ne [00:02:00] cerebellar cognitive effective syndrome mu genetic ataxias, kusiyana nekuva yakavakirwa uye maererano nekurapwa, izvi zvinorapwa zvakafanana nezvimwe zvirwere zvepfungwa zvinokanganisa. Matambudziko epfungwa akajairikawo, kungave kuri kuwedzera kwe cerebellar cognitive affective syndrome, CCS, kana kuti reactivity kune zvinonetsa zvekufamba, kudzikira uye kutya ramangwana, izvo zvinonzwisisika zvikuru. Zvechokwadi, kuora mwoyo kwakawanikwa kuripo mu17% muboka guru reSCA, uye kusvika ku36% muFriedreich's ataxia. Zviratidzo zvepfungwa zvinogona kurapwa nenyanzvi yepfungwa yemurwere kana chiremba mukuru, kana PCP kana nepfungwa. Uye semazuva ese, vanachiremba vanofanirawo kubvunza nezvepfungwa yekuzviuraya sezvo ichi chiri chikonzero cherufu chinogona kudzivirirwa uye chinofanira kuitwa nekungwarira, asi chinofanira kuitwa zvakajairika. Uye zvechokwadi muchipatara changu, ndinobvunza nezvepfungwa dzekuda kuzviuraya pamwe chete nekuora mwoyo, kuzvidya mwoyo, uye psychosis muvarwere vangu vese vane dambudziko rekufamba. Ndiyo pfungwa huru yemaitiro angu ekurapa.

Hapana gwara rakanangana rekurapa genetic ataxias [00:03:00] kunze kwekuti pamwe citalopram inogona kukurudzirwa pakurapa SCA3, sezvo paine humbowo hwekuti izvi hazvisati zvaitwa. Ndingatiwo varwere veneuroleptics vanofanira kudzivirirwa kana zvichibvira, tichifunga nezvengozi ye tardive syndromes uye Parkinson inokonzerwa nemishonga, izvo zvinogona kuomesa mufananidzo wekiriniki uye zvichikonzera zviratidzo zvekufamba zvakanyanya.

Kufambira mberi papfungwa, hazviwanzoitiki asi zvinogona kuitika mune mamwe marudzi uye hazviwanzoomesera chirwere chakanyanya muFA, saka, kana uchizozviona muFA, uye chisina kunge chiri chirwere chakanyanya pakutanga kwechirwere, saka unofanirwa kutsvaga zvimwe zvikonzero, kushandiswa kwezvinodhaka nezvimwe zvakadaro. Sezvandakakurukura, mishonga yekurwisa pfungwa inofanira kunge iri padanho rakaderera rinoshanda. Zvirokwazvo zviri nyore kuzviita pakurapa kushungurudzika kana kuzvidya mwoyo. Zvakaoma kuzviita paunenge uchitarisa psychosis, uye zvechokwadi ndingati mushonga wakakodzera senge weParkinson's disease unofanirwa kunge wakaita sequetiapine kana clozapine. Uye kunyangwe pasina data rekushandisa pimavanserin, iyo yakatenderwa neFDA yekurapa [00:04:00] psychosis muParkinson's disease, tichifunga nezvedata nedzimwe zvirwere zve neurodegenerative, izvo zvinogona kunge zviri kufunga nezvekushandisa zvisiri zve label.

Kuneta ndeimwe nyaya huru. Zvakajairikawo uye zvine chekuita nekuomarara kwezvirwere zvemitsipa yemuviri, asi zvakare zvine chekuita nezviitiko zvakawanda. Uye ndingati hapana mubvunzo kuti zviratidzo zvepfungwa zvine chekuitawo neizvi. Zvinokurudzira zvinogona kufungwa nezvazvo sezvo boka redu riri kunyatsoongorora.

Dambudziko rekurara rinowanzoitikawo. Uye kunyange zvazvo dambudziko reREM remaitiro ekurara richigona kuitika muataxias inokonzerwa neParkinsonism. SCA3 ndiyo inonyanya kuitika, asi inogonawo kuwanikwa muSCA2 neSCA1. Nekuda kweizvozvo, unofanira kubvunza nezveizvi uye kurapa kana zvichikosha maererano nemaitiro angu, ndinowanzo tanga nedosi shoma uye inowedzera yemelatonin sezvandinoita kune varwere vane chirwere cheParkinson uye ndinoderedza benzodiazepines kuchirwere chakakomba zvikuru tichifunga nezvemigumisiro yacho.

Saka unofanirawo kuzviisa mupfungwa dzako, saka ndicho chimwe chikonzero nei zvichikosha kukurudzira kukanganiswa kwehope uye matambudziko ekurara mu [00:05:00] genetic ataxias. Restless leg syndrome inonyanya kuwanikwa muSCA3. Saka zvakare, unofanira kubvunza nezvazvo uye kubata sezvawaizoita neRLS muParkinson's disease.

Tichienderera mberi kune zviratidzo zvemudumbu nedundira, izvi zvinowanzoitikawo uye kunyanya muFriedreich's ataxia uko zviratidzo zvemudumbu zvinogona kuitika muhuwandu hwakawanda, pamwe kusvika ku80% uye zviratidzo zvemudumbu mu64%. Kana tichienzanisa, paive ne15% yeboka reSCAs vaive nezviratidzo zvemudumbu zvakaderera. Zviratidzo zve autonomic, nepo iwe ungawanzobatanidza izvi nemamiriro akaita seMSA, zvinogonawo kuitika muCANVAS, saka unofanirwa kurangarira izvozvo uye kubata sezvakaratidzwa. Zviratidzo zvepabonde zvinowanzotaurwa zvishoma, uye ndingatiwo vanopa rubatsiro nevarapi vanowanzoita basa risina kunaka rekubvunza nezvezviratidzo zvepabonde. Asi zvinowanzoonekwa zvakanyanya paFriedreich's ataxia uye zvinofanirwa kubvunzwa, asi nekungwarira sezvo zvichigona kuva nyaya inonetsa varwere. Uye unogona kushandisa marapirwo akajairwa [00:06:00] eizvozvo, kusanganisira PD5 inhibitors, izvo zvinogona kubatsira.

Utachiona hwetsinga hunowanzoitika muataxia zhinji, nepo marwadzo etsinga achinyanya kusanganiswa neataxia huru, SCA3 neSCA1, asiwo recessive ataxias, Friedreich's ataxia neCANVAS.

Purofesa Orlando Barsottini: Zvakanaka, zvakanaka. Chris, wataura nezvematambudziko ekuziva mu ataxia, ungakurukura zvakawanda here nezve cerebellar cognitive affected syndrome uye kuti ungaziva sei varwere ava?

Dr. Christopher Stephen: Zvechokwadi. Uye zvechokwadi kubatana kweizvi uye kwazvakatangira izvi kuri pedyo zvikuru nekuti mu cerebellar cognitive affective syndrome, CCS kana Schmahmann syndrome yave iri basa rehupenyu hwemumwe wangu Dr. Jeremy Schmahmann, uye inomiririra boka rezvepfungwa nepfungwa dzinokonzerwa ne cerebellar pathology. Zvechokwadi chirwere ichi chinoratidza basa re cerebellum kupfuura kubatana kwe motor [00:07:00], uye kunyanya kubatanidzwa kwaro mukushanda kwepamusoro kwepfungwa kuburikidza nekubatana nenzvimbo dze prefrontal, parietal, uye frontal temporal cortical. Zvakakosha, neuro anatomically, izvi zvinosanganiswa nekukuvara kana chirwere chinosanganisira posterior lobe environments ye cerebellum uye chinoratidza anterior sensor motor. Kusiyana ne posterior cognitive ne emotional dichotomy. Kunyange zvazvo ma lobes chaiwo akabatanidzwa kune akasiyana cognitive uye effective domains.

Saka kana tichitaura nezveCCS, zvinhu zvikuru zvinosanganisira mabasa epamusoro akadai sekuronga, kuchinja-chinja mashandiro, kutaura zvakanaka, kufunga zvisina musoro, uye kurangarira zviri kushanda. Zvakare, matambudziko ekuziva nzvimbo anosanganisira kurangarira kwenzvimbo nekuona uye kushomeka kwemutauro.

Zviratidzo zvepfungwa zvinogonawo kusanganisira kushanduka kwehunhu nekudzikira kwemaitiro kana kusazvidzora uye asina kukodzera pamwe nezvinetso zvekudzora pfungwa, kudzora manzwiro, OCD spectrum, saka pfungwa kana zviito zvinomanikidzira uye zvinomanikidza, autism spectrum [00:08:00] kana psychosis. Chimwe nechimwe chezvinhu izvi zvakasiyana chinogona kuva nepfungwa dzakanaka kune dzakanyanya kana dzisina kunaka, izvo zvinogona kuvapo uye kuumbwa sekusagadzikana kwepfungwa uye sezvaunogona kufungidzira, sezvinoita mamwe matambudziko epfungwa, zviratidzo izvi zvinogona kukuvadza zvikuru uye zvinopa zvakanyanya kurwara.

Kunewo zviyero zvinobatsira zvekuziva CCS, iyo inoburitswa neboka redu, kusanganisira CCS Scale, iyo yakaburitswa muna 2017 uye munguva pfupi yapfuura, Cerebellar Neuropsychiatric Rating Scale kana CNRS, iyo yakaburitswa muna 2025, kunyange zvazvo yave ichishandiswa kubvira pamwe muna 2016. Uye iyo imibvunzo yemucherechedzi kana yekuchengeta. Izvo zvakawanikwa zvichibatsira zvikuru pakuona zviratidzo zve neuropsychiatric zvine chekuita neCCS. 

Purofesa Orlando Barsottini: Zvakanaka Chris, kupfuura central nervous system ndezvipi zviratidzo zve multi-system zvinoitika mu ataxia?

Dr. Christopher Stephen: Zvakanaka, uyu ndiwo mumwe mubvunzo unokosha zvikuru. Kunyange zvazvo ndingati magene ataxias, kunyanya Friedreich's ataxia, zvirwere zve multi-system, izvi zvinogona kuvapo mune mamwe magene ataxia akasiyana. Apo zviratidzo zvinopararira kupfuura central nervous system uye zvinogona kutungamira kuzvirwere kana kunyange kufa. Nekuda kweizvozvo, kuziva izvi nekuongorora izvi kwakakosha zvikuru, sezvo pangave nekurapa kunoshanda kana nzira dzekutarisira dzinogona kuderedza zviratidzo izvi zvemuviri.

Pakukurukura izvi, tinofanira kutanga tataura nezvezviratidzo zvemwoyo, izvo zvinosuwisa kuti zvinowanzoonekwa uye hazviwanzo kuwanikwa mukutanga kweataxia senge SCA7 yekutanga. Chirwere cheRefsum nezvimwe zvirwere zvisingawanzoitiki. Uye kutarisa zviratidzo zvemwoyo zveFA kunoitika mu85% yevarwere vanowana chirwere chemwoyo uye chirwere chemwoyo, icho chiri chikonzero chikuru cherufu, uye kusvika ku62% yevakafa neFA nekuda kwekutadza kushanda kwemoyo kana arrhythmia. Uye nekuda kweizvozvo, zvakakosha zvikuru [00:10:00] kuti varwere veFriedreich's ataxia vaongororwe mwoyo nguva nenguva, uye zvakare kusanganisira kurapwa kweBP, shanduko dzemararamiro, zvishandiso sezvakakodzera, uye kunyangwe mune vamwe vanhu vanofunga nezvekuisirwa mwoyo. Zvakakoshawo kuti kwave nemishumo yekutanga inokurudzira pamusoro pekuyedzwa kwemajini ekurapa cardiomyopathy neFA izvo zvinonyaradzawo.

Zviratidzo zveEndocrine chimwe chinhu chakakosha chinokanganisa masero akawanda emuviri. Kazhinji zvinosanganisira chirwere cheshuga, icho chinoratidzwa neFA, apo chinogona kuvapo kusvika ku30%. Uye zvinonzwisisika kuti izvi zvinogona kukonzera kurwara. Uye kunewo zvimwe zvikonzero zvisingawanzoitiki zvakaita seWolfram syndrome, kungave kwakabatanawo nediabetes insipidus. Nekuda kweizvozvo, senyanzvi yezvetsinga, kutarisira varwere veFA kunofanirwa kuve nechokwadi chekuti vanoongororwa hemoglobin A1C gore rega rega. Kana ukaona chirwere cheshuga, unofanira kurapa izvi nekukurumidza sezvinobvira. Kana tichienzanisa, hypogonadotropic [00:11:00] hypogonadism inobatanidzwa neGordon Holmes uye mamwe masyndromes akafanana uye inofanirawo kurapwa. Zviratidzo zvetsandanyama dzakadai sescoliosis zvinozivikanwa kuti zvinoomesa ruzhinji rwevarwere veFriedreich's ataxia uye zvakare deformities dzetsoka dzakadai sepes cavus dzakajairika. Izvi zvinogona kuvapo mune mamwe magene ataxias, asi zvakakosha kuti izvi zvingada kugadziriswa kwekuvhiyiwa.

Kurasikirwa nekuona chinhu chikuru muSCA7 uko kune kuvepo kwecone-rod dystrophy, asi zvakajairikawo muFriedreich's ataxia uko kune optic atrophy. Zvinowanikwawo muWolfram syndrome uye mitochondrial disorder. Zvisinei, zvinosuwisa kuti pari zvino hapana mishonga inoshanda yekuona inobatanidzwa ne genetic ataxia iyi, asi zviri pachena kuti pane tariro yeramangwana, uye kunyanya mishonga yakaita se gene therapy.

Kurasikirwa nekunzwa kunogonawo kusanganisira Friedreich's ataxia, nezvimwe zvishoma. Zvikuru sei, ndingataura nezveSCA 36 uye mitochondrial disorders. Uye izvi zvinogona kurapwa sezvamungaita nechero rimwe dambudziko rekunzwa, nekubatsira kunzwa, [00:12:00] amplification, uye cochlear implants sezvakaratidzwa. Kusiyana neizvi, kusashanda zvakanaka kwechiropa kwatinoziva kunowanzobatanidzwa nechirwere cheWilson, chinogona kuuya neataxia. Manyoka asingaperi chiratidzo chinowanzoitika chekunzwa kweuropi uye kutadza kweitsvo kunogonawo kuitika kashoma mu genetic ataxias. Zvakadai se action myoclonus renal failure syndrome, iyo inokonzerwa neSCAB2 mutations.

Chimwe chinhu chakakosha ndechekuti kune ma genetic ataxias mashoma uko kunogona kuwedzera njodzi yekenza, asi zvakakosha kuziva izvi kana ukarapa varwere ava. Kazhinji unofunga nezve ataxia-telangiectasia saka, kana uine murwere ane AT unofanira kuderedza huwandu hwemwaranzi yaanowana kuti aongororwe. Saka semuenzaniso, shandisa MRI kana zvichibvira pane CT kana kunyange radiographs dzemazuva ose. Uye dzinofanirawo kutariswa zvakanyanya, kusanganisira mhando dzakasiyana dzekenza uye kurapwa zvine simba sezvo varwere vanogona kukura lymphoma, leukemia, solid organ monities [00:13:00] monities pakati pezvimwe. Uye zvakafanana neAT-like disorders inokonzerwa neMRE11 variants, inogonawo kusanganiswa ne lymphoid monities, nepo myeloid monities inogona kusanganiswa ne 79 L related ataxia kana SCA49, kunyangwe iri chirwere chisingawanzoitiki. Ndingakuratidzai kuti mutarise idzi dzakasiyana-siyana dzakasiyana-siyana dze multi-system involvement ataxia pane dzimwe wongororo dzakanaka dzakaitwa nevamwe vangu, Malco Rossi naJose Luis Pedroso, avo vakandipa wongororo idzi dzakawanda uye vanga vachindibatsira zvikuru mumakore apfuura.

Purofesa Orlando Barsottini: Zvakanaka, Chris, ndatenda nemhinduro yakazara. Mumwe mubvunzo, Chris, kurapwa kwemarudzi akawanda ezvirwere zvemajini kunofanira kunge kwakaoma sei. Iwe neboka rako kuHarvard mave muchikurudzira kana kupa mazano api?

Dr. Christopher Stephen: Zvechokwadi, uye izvi hazvisi zvitsva kune genetic ataxia, asi zviripo kana paine chero chirwere che [00:14:00] neurogenerative disorder uye kunyanya zvirwere zvisingawanzoitiki uye zvakaoma senge genetic ataxia. Chatinofanira kurangarira pano ndechekuti semazuva ese, murwere ndiye ari pakati pechikwata chekutarisira. Uye zvakare pedyo nemurwere, maererano nekurapwa, chiremba wetsinga uye nyanzvi yeataxia inodiwa kuti azive nezvekutarisira chirwere cheataxia uye anoshanda pamwe chete nachiremba wemurwere. Saizvozvowo, mamwe mahunyanzvi ekurapa anogona kudiwa kuti abvunze kana kugadzirisa zviratidzo zvemuviri, sezvandakakurukura, semuenzaniso, kuteverwa kwemoyo kwakakosha kune Friedreich's ataxia. Saizvozvowo, ophthalmology inofanira kuona varwere vane kana vari panjodzi yekurasikirwa nekuona, senge SCA7. Kana psychiatry kana neuropsychiatry zvinogona kubatsira zvikuru kugadzirisa zviratidzo zvepfungwa zvakanyanya pamwe nevanorapa pfungwa nevamwe vanopa hutano hwepfungwa.

Kashoma, ungangoda kuva nenyanzvi dzekuvhiya kuti dzive chikamu chechikwata chingangodiwa, semuenzaniso, mukuvhiya kwemapfupa ematambudziko e scoliosis muFA kana mamwe madhiragi emakanika [00:15:00]. Ndingatiwo vanachiremba vezvekurapa nevanogadzirisa vanogona kubatsira zvikuru sezvo vachigona kubatsira kutungamira kugadziriswa kuti vape rubatsiro rwakakosha muzviitiko zvakaoma zvekugadzirisa, izvo zvinogona kuratidza vamwe vevarwere vane genetic ataxia kunyanya gare gare mukosi.

Kubva pane izvozvo, chimwe chinhu, kunze kwekurapwa, nyanzvi dzezvekurapa, dzakakosha pakurapa ataxias kurapa kwekugadzirisa, kwandingati kunofanira kuva kurapwa kwekuchengetedza mukati menguva yese yechirwere. Saka kwete kungorapwa kamwe chete. Kamwe chete. Asi kurapa kunofanirwa kuvepo mukati menguva yese yechirwere nekuongororwazve nguva nenguva uye kurapwa kwakakodzera sezvo zviratidzo zvichidzikira. Saka izvi zvinosanganisira kurapa kwemuviri kana physiotherapy kunyanya kushanda pakuwana chiyero, kusimbisa uye kutambanudza, asiwo kurapa kwebasa rekushanda pahunyanzvi hwemaoko, mabasa ehupenyu hwezuva nezuva, ADLs, IDLs uye kugadzirisa midziyo yekudyira, mapeni [00:16:00], zvimwe zvishandiso zvepamba, asiwo kurapa kutaura kuti kushande pa dysarthria, kunzwisisa kwekutaura, uye dysphagia kuti kushande panzira dzakachengeteka dzekumedza. Uye zvakare zvishandiso zvekubatsira uye zvekuwedzera kutaurirana kana matambudziko ekutaura emurwere akanyanya zvekuti ari kunetseka kutaurirana zvavanoda nezvavanoda.

Zvakakoshawo kuziva kuti mune chero zvirwere zvemajini, vapi vemazano ezvemajini inhengo dzakakosha zvikuru muchikwata sezvo vachipa mazano ezvemajini uye hurukuro dzekuronga mhuri, uye vanogona kuve vakakosha zvikuru musarudzo idzi dzakaoma dzemhuri uye kunzwisisa njodzi kuchizvarwa chinotevera uye kune dzimwe nhengo dzemhuri. Kutarisirwa kwevanorwara kunogonawo kudiwa kunyanya munzvimbo dzine chirwere chikuru. Zvakare, basa rekubatsira vanhu rakakosha zvikuru pakupa mazano nerutsigiro rwemhuri, uye izvi zvinofanira kuitwa kuburikidza nachiremba mukuru kana sezvakaratidzwa kuburikidza nachiremba wepfungwa wemurwere.

Uye zvakakoshawo kutaura nezvezviwanikwa zvemunharaunda. Zvakadai semapoka akakosha ekutsigira varwere, kusanganisira masangano akadai seNational [00:17:00] Ataxia Foundation muUS kana kuAtaxia UK muUK nemamwe masangano chaiwo anoenderana nenyika. Mabasa avo anogona kusanganisira kupa mapoka ekutsigira varwere nevanovachengeta, misangano, kubatanidza varwere nemhuri dzakadai semusangano wepagore weNational Ataxia Foundation. Vanoburitsa ruzivo rwekurapa runonzwisisika rwakakodzera ataxia, pamwe neruzivo rwekiriniki netsvagiridzo pakati pemamwe mabasa mazhinji avanopa.

Purofesa Orlando Barsottini: Zvakanaka, Chris, pane humbowo here hwekurovedza muviri pakurapa ataxias?

Dr. Christopher Stephen: Saka hongu, zviripo. Uye humbowo hwakawanda hweizvi husati hwawanikwa husati hwawanikwa hwakasiyana-siyana hwekuti ataxia hwakabva kune mamwe matambudziko ekufamba akadai sechirwere cheParkinson, uko kune humbowo huri kukura, hunotsigira kurovedza muviri uye kugadziriswa kuti kuderedze kufambira mberi kwechirwere. Uye kutaura chokwadi, pari zvino muchirwere cheParkinson kurovedza muviri ndiko chete kurapwa kwakaratidzwa kuti chirwere chinononoka kufambira mberi. Asi zvakare kuri kuwedzera kukosha pakurapa cerebellar ataxia.[00:18:00] 

Mimwe miedzo yekudzora yakaitwa munguva pfupi yapfuura inoratidza mabhenefiti ane musoro. Kana uchitaura nezvechikonzero nei izvi zvingave zvakadaro, tsananguro dzinogona kutaurwa dzinosanganisira kushandisa neuroplasticity nekuita mabasa emuviri kakawanda kana kudzivirira zviratidzo zvichiwedzera kuipa kwevarwere vane hutano hwakanaka uye simba. Saka maererano neuchapupu, bvunzo yekiriniki yenzvimbo dzakawanda yakaburitswa muNeurology gore rapfuura yaisanganisira boka revanhu 71 vane ataxias yemajini vakagoverwa kumavhiki matanhatu ePT yekubuda muchipatara, ichiteverwa nechirongwa chekurovedza muviri kumba kwemavhiki makumi maviri nemana, kusanganisira kuenzana uye aerobic kusiyana nebasa ravo remazuva ese. Uye izvi zvakaratidza kuvandudzika kwekuoma kweataxia uye kuzvimiririra kwekushanda, izvo zvakagara zviripo mumavhiki makumi matatu. Mushure mezvo, imwe bvunzo ndichienzanisa kusimba kwakanyanya kumba, ndinosimbisa kudzidziswa kwe aerobic kwakanyanya kuti kuenzana kwekurovedza muviri. Ndakaona kuti kudzidziswa uku kwe aerobic kwakanyanya kwakavandudza zviratidzo zve ataxia, kuneta uye kusimba kwe aerobic kupfuura kudzidziswa kwekuenzanisa chete. Uye zvakakosha, kune avo vari mu [00:19:00] boka re aerobic rakaramba richidzidzira nguva dzose, mabhenefiti aya akachengetedzwawo pagore. Saka izvi zvinoratidza kuti tinogona kugadzirisa kusimba kwakanyanya, saka tiri kutaura kuti mazuva mashanu pasvondo anobatsira. Zvisinei, mune dzimwe ataxia, kurovedza muviri kushoma kwaibatsira. Saka kunyangwe usingakwanise kuita kurovedza muviri uku kwakasimba, izvo zvingasava zvemunhu wese, uye zvingasakwanisika mune dzimwe ataxia dzakanyanya kukura, kuita kurovedza muviri kushoma kuchiri kuunza mabhenefiti. Pamusoro pezvo, ndinokurudzirawo kukurudzira kutevedzera. Vanofanira kuedza kuita kuti kurovedza muviri kunakidze, uye iyi inogona kuva nzira inobatsira.

Saka kune ruzivo runoshandisa mitambo yemavhidhiyo runogona kubatsira. Ini ndinowanzo kurudzira kusanganisira nzira dzakasiyana-siyana dzekurovedza muviri, kusanganisira kurovedza muviri zvine mwero uye aerobics. Uye vamwe varwere vakafarirawo kushandisa system yemitambo yemavhidhiyo kushanda pakurovedza muviri zvine mwero. Izvo, sezvandambotaura, zvinogona kunakidza. ' nekuti pakupedzisira, kana uchida kuti mumwe munhu arambe aine chinangwa chekuita maekisesaizi nguva dzose, unofanirwa kuve nechokwadi chekuti hazvisi [00:20:00] basa, hazvisi dambudziko kuti havasi kuita chimwe chinhu kunze kwekurovedza muviri.

Purofesa Orlando Barsottini: Chris, ikozvino ndoda kutaura nezvenyaya inonyanya kukosha. Ndirini patinofanira kufunga nezvekuchengetedzwa kwevarwere vane ataxias uye ndingakurukura sei izvi nemurwere nemhuri yake?

Dr. Christopher Stephen: Zvechokwadi, uye ndinofunga nekufamba kwemakore kufunga kwedu nezvekuchengetedzwa kwevarwere kwakachinja zvechokwadi. Zvisinei, izvi zvinowanzova zvinonzwisisika, kunyanya nekuti varwere havanyatsonzwisisi chinangwa nezvinangwa zvekuchengetedzwa kwevarwere. Saka kurapwa kwevarwere kunofanira kufungwa nezvazvo pakutanga kwechirwere, kwete pakupera kwehupenyu chete. Asi kurapwa kwevarwere nekukurumidza uye kuronga kurapwa kwepamusoro-soro kwakakosha zvikuru. Zvinozivikanwa nezvirwere zvinokurumidza kufambira mberi, zvinogona kusanganisira Friedreich's ataxia, uko varwere vanogona kuvharirwa pawiricheya, vari mumakore avo ekuyaruka kana kutanga kwemakore makumi maviri muchimiro chechirwere chekare, asi kunyanya kune zvirwere zvinokurumidza kufambira mberi zvakaita sezvirwere zvinowanikwa nemajini. Apo vamwe varwere, semuenzaniso, avo vane majini [00:21:00] CJD vanogona kutofa nemwedzi yezviratidzo zvichitanga. Saka izvozvo zvishoma nyaya yakasiyana.

Ndichataura zvakawanda maererano nerubatsiro rwekurapa varwere vane majini asina kugadzikana. Saka ndingati zvinhu zvakakosha kufunga nezverubatsiro rwekurapwa kwevarwere vane marwadzo epfungwa, kusanganisira zviratidzo zvekurapa kana zvepfungwa zvakanyanya kana zvisingashande, matambudziko emanzwiro, emweya, kana emagariro, zvinangwa zvakaoma zverubatsiro, kana zvinodiwa zvekuronga kutarisirwa kwepamusoro, kushushikana kwemuchengeti kana kuneta uye kuderera kwakanyanya kwehupenyu kana mashandiro. Kusiyana neizvi, kutarisirwa kwevarwere vane hospice kwakagadzirirwa avo vane chirwere chakanyanya kukura, vane kutadza kushanda zvakanaka uye kuzvimiririra. Asi hazvirevi kuti varwere vanogona kuramba vachienda kuchipatara. Asi tichifunga nezvekusarurwa kunobatanidzwa nekurapwa kwevarwere vane marwadzo emwoyo, zvakakosha kuva pachena pakukurukura rubatsiro nevarwere uye kunyatsotsanangura kuti kutarisirwa kwevarwere chii uye kwete chii, uye kuedza kudzivisa mafungiro asina kunaka anogona kunge akajairika nekuti varwere vazhinji vanofunga kuti kutarisirwa kwevarwere vane marwadzo emwoyo, oh, uku ndiko kutarisirwa kwekupedzisira kwehupenyu. Handizvo zvakaita kutarisirwa kwevarwere vane marwadzo emwoyo. Saka, ibasa redu sechiremba kutsanangura zvinangwa zve [00:22:00] kutarisirwa kwevarwere vane marwadzo emusana nderekuwedzera nekutarisa pamhando yehupenyu, iyo inogona kuvapo chero padanho rechirwere, uye chero munhu anofanira kunge ari chinangwa chekuwedzera nekutarisa pamhando yehupenyu uye kubata zviratidzo zvakanaka.

Uye zvakakoshawo kuziva kuti rubatsiro rwekurapa runowanzo kupihwa pamwe chete nekurapwa kwemuviri, izvo varwere vazhinji nemhuri dzavo vangave vasingazive. Sechiremba, unofanirwa kushandisa kutaurirana netsitsi uye kuteerera zvine hungwaru kuti uwane maonero emurwere, zvaanoda, manzwiro ake uye tsika dzake. Zvakakoshawo kukurukura nezvenzira yechirwere kuti utsigire kuita sarudzo. Hurukuro iyi inofanirawo kutaura nezvekuronga kwekutarisira kwepamusoro uye zvinangwa zvekutarisira. Uye bvuma dambudziko rekuremara. Saka dambudziko rekuremara nderekuti varwere vanogona kuona mamiriro eramangwana seasingagamuchirwi, zvakaita sekunge vakasungwa newiricheya, kunetseka nekutaura, zvinhu zvakadaro.

Asi chaizvoizvo pavanosvika padanho iroro, vanozviwana zvichigamuchirwa kana izvi zvava kuitika sezvavanotanga kuchinja mararamiro avo. Saka unofanira kufunga nezvazvo zvakare [00:23:00]. Uye ndingati kubva pane zvakaitika kwandiri, kurapwa kwevarwere kwave kuchibatsira zvikuru kuvarwere nemhuri dzavo uye serutsigiro kuna chiremba wepfungwa.

Uye nerombo rakanaka, tine timu yakanaka kwazvo yekurapa varwere vanorwara nepfungwa, uye yekurapa varwere vanorwara nepfungwa pano paMass General.

Purofesa Orlando Barsottini: Zvakanaka. Uye Chris, tinofanira kukurukura nezvekupa uropi mu ataxias, unofungei nezveizvi?

Dr. Christopher Stephen: Saka ndingati hongu, tinofanira kukurukura nezvekupa uropi pa genetic ataxias. Nguva dzose ndinoona kupa uropi sechipo chikuru chinogona kupihwa nevarwere vehama. Uye ndinogara ndichitsanangura izvi nemashoko akadai nekuti ichi chipo cheruzivo chichabatsira pakunzwisisa zviri nani ataxia uye ndinotarisira kuti pakupedzisira mushonga pane imwe nguva.

Ndingati pamusoro pechinangwa chekubatsira vanhu chekuvandudza ruzivo rwesainzi, zvakakoshawo kubvuma kuti kuongorora chitunha kuchiri chiyero chakanaka chekuongorora chirwere chetsinga. Ndinotsanangurawo zvakajeka kuti nepo pari zvino paine mukana wekudzidza chirwere uchishandisa masero etsinga anobva kumurwere, izvo zvinogona [00:24:00] pamwe kuita kuti varwere vafunge sezvo uine tekinoroji yese iyi, sei uchifanira kupa uropi uye kudzidza tsinga dzeuropi. Uye nepo masero aya anobva kumurwere achigona kupatsanurwa kuita neurons, kunzwisisa kwedu biochemistry uye shanduko dzetsinga dzinokonzerwa nezvirwere izvi zvinoparadza kuchawanikwa chete kuburikidza nekushandisa tsinga dzemushure mekufa. Zvakakoshawo kurangarira kuti zvinogona kuitika kuita bvunzo dzemajini mushure mekufa kubva kutsinga dzeuropi, semuenzaniso, kana zvaisakwanisika kuzviita muhupenyu. Zvisinei, chandingataura ndechekuti chinhu chikuru chinodzivisa kupa uropi kushaikwa kwezvikumbiro zvezvipo zvinoitwa navanachiremba. Uye zvechokwadi zvidzidzo zvakaratidza kuti hafu yevanachiremba havambotauri nevarwere nezvekupa uropi zvachose. Zvimwe zvezvikonzero zvekusatsvaga mvumo zvinowanzosanganisira, kunyanya kusanzwa zvakanaka kutaura nezvenyaya iyi, pamwe nekushaya ruzivo rwekuti kurapwa kwemuviri mushure mekufa kunobatsira sei mune zvehutano uye mune zvesainzi.

Dzimwe nguva zvirambidzo zvesangano, pamwe nekufungidzira mhuri zvakanyanya zvinofungidzira kusawirirana, saka ndichifunga kuti, hapana nzira yavachazviita nayo, nekuti izvozvo zvingasadaro. [00:25:00] Zvakare, ndingati kubva pamaonero emurwere nemhuri, kana paine zvipingamupinyi zvatinofanira kubvuma, uye izvi zvinogona kusanganisira kuona kupa sekupinda kana kukonzera kukuvara kwemuviri, kana kuona kupa sekusawirirana nezvitendero zvemweya kana zvechitendero, kana kunetseka kwemudiwa kuri kuchengetwa zvachose. Unoziva, izvi zvinogona kubatwa nevamwe vanhu. Tinofanirawo kufunga nezvekusavimbana kwekare kunobva mukukanganiswa kwekuchengetedzwa kwenhengo. Ndingati nguva yacho inokoshawo kana uchizotaura nezvenyaya yekupa uropi, uye inofanira kukurukurwa murwere achiri kugona kwepfungwa kuitira kuti agone kuita sarudzo yerudzi urwu kwete kungoti kufa kwake kusati kwasvika. Ndingatiwo kana wangotaura nezvazvo, nyaya yacho inofanirawo kudzokororwa pakushanya kwevarwere vari kunze kwechipatara panguva yechirwere. Asi pane zvinhu zvakati wandei zvekufunga nezvazvo.

Pamusoro pezvo, vanhu vane zvirwere zvemajini zvisingawanzoitiki vanonzwisisawo miganhu yesainzi. Brain tishu inogona kubatsira masayendisiti echizvarwa chinotevera, kusanganisira nhengo dzemhuri dzavo kana vana vavo. Saka izvozvo zvinogona kuva chikonzero chikuru chekuti [00:26:00] vafarire uye vabvume kupa uropi. Kutsvaga mvumo kazhinji inzira kwete chinangwa chekubvunzurudzwa kamwe chete. Uye sezvandataura, murwere nemhuri vanofanira kubatanidzwa muhurukuro dzakakosha. Ini pachangu ndinopawo varwere nenhengo dzemhuri kana hama dzepedyo ruzivo rwakanyorwa nezvemaitiro acho pakutanga kuitira kuti vagone kuva nemagwaro aya ekufungisisa kumba. Zvakakoshawo kugadzirisa matambudziko angangoitika pachine nguva, akadai semari, kucheneswa, uye zvitendero, sezvandakataura.

Saka mari inogona kuva dambudziko. Zvakakosha kutaura chokwadi nezvenyaya iyi. Zvisinei, mamwe masangano ekubatsira varwere akadai seNational Ataxia Foundation anogona kupa mari yekubhadhara mari yese yekufambisa uye kuongororwa kweuropi. Kunyange hazvo mhuri yevanopa mari ichine mutoro wekubhadhara mari yemariro kana kupiswa kwemuviri nguva dzose. Ingave ichinetsekawo nezvezvitendero.

Zvisinei, zvinokosha kuziva kuti kunyange zvazvo zvitendero zvikuru zvakawanda zvichitsigira kupa nhengo dzemuviri nenyama. Kana varwere vaine mibvunzo chaiyo kana zvinovanetsa nezvemaonero echitendero chavo panyaya iyi [00:27:00], vangangoda kutaura nemutungamiriri wechitendero chavo, saka zvechokwadi unofanira kutsigira kuti vaite izvozvo nekuti sechiremba wepfungwa, unofanira kuva mutsigiri mukuru wemurwere wako.

Purofesa Orlando Barsottini: Zvakanaka. Tinotenda Chris nekugovana pfungwa idzi uye tinotenda vateereri vedu nekubatana nesu. Tinovimba kuti chikamu chino chichakubatsira kutarisana nezviratidzo zvisiri zvemuviri mu genetic ataxias nechivimbo chakawanda uye nemazvo. Tinotenda.

Dr. Christopher Stephen: Ndatenda zvikuru, Orlando. [00:28:00]