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International Parkinson uye Movement Disorder Society

Chirwere cheHuntington muAfrica neMiddle East: Kudanwa Kwekuita

Chirwere chaHuntington (HD) is autosomal dominant fatal neurodegenerative disorder, inoratidzwa nemota, pfungwa, maitiro uye yekuziva zviratidzo. Chirwere ichi hachina kutaurwa muAfrica nekuMiddle East, uko ruzivo rwechirwere chechirwere uye manejimendi eHD rushoma. Pano tiri kuyedza kutarisa nezvechirwere cheHuntington mudunhu tichiratidzira mamwe matambudziko acho. 

The Prevalence

Huwandu hwepasi rose hwechirwere cheHuntington hwakasiyana-siyana uye hunosiyana kubva mudunhu kuenda kune rimwe, nemusiyano wakapetwa kagumi pakati pematunhu pasirese1.
Kunyangwe paine mishumo yakawanda ine Confirmed CAG kudzokorora kuwedzera kwakatsanangurwa munyika dzakasiyana muAfrica, kupararira kwechirwere cheHuntington kuchiri kushomeka.

Mukuongorora kwavo kwakarongeka, Rawlins nevamwe vaaishanda navo vakataura nezvehuwandu hwehuwandu hwakaderera pakati pevatema muSouth Africa (0.02, 95% CI 0-0.5 pa100,000) neZimbabwe (1.00, 95% CI 0.48–1.84 pa100,000). Kune rumwe rutivi, Baine et al. yakashuma kuwanda kwepamusoro kwakasvika 5.1, 2.1 uye 0.25 (pavanhu 100,000) kune vachena, vakasanganiswa madzitateguru uye mapoka evatema zvakateerana muSouth Africa.

Mishumo yakabva kuNorth Africa haina mhedziso neongororo yakaitwa muna 1994, umo kupararira kwechirwere ichi muEgypt kwaifungidzirwa kuva 21 pa100,000 kuti kuve kupararira kwepamusoro kwakashumwa pasi rose, sezvo pasina zvimwe zvidzidzo zvedenda zvakaitwa kusimbisa. Dzimwe nyika mudunhu dzinosanganisira Tunisia neMorocco2 dzine dzimwe nyaya dzeHD, dzichiri kushaya huwandu hwechirwere ichi.

Nezvekupararira kwechirwere ichi kuMiddle East hazvisati zvanyatsojeka, muna 2009 Scrimgeour3 yakashuma fungidziro ye3-4 pa100,000 zvichienderana nezvidzidzo zvishoma zviripo kubva kune dzimwe nyika mudunhu. Muna 2019 Squitieri et. al,4 yakashuma fungidziro yehuwandu hwe7.36 pavagari ve100,000 kubva mudunhu reMuscat reSultanate yeOman.
Pane kudikanwa kwekutanga maregistries emunyika needunhu eHD kesi uye kuita zvidzidzo zvedenda kuti tifungidzire kuitika uye kuwanda kwechirwere ichi muAfrica neMiddle East.

The Genetics

HD inokonzerwa nekuvapo kwenhamba yakawedzerwa yeCAG inodzokorora muHTT gene pachromosome 4p16.3.
Zvakakodzera kutaura kuti kune yakakwira ethnolinguistic uye genetic kusiyana muAfrica. Kuongororwa kwemajini echirwere chaHuntington kwakaitwa muAfrica kutanga muna 1994, kunyanya muSouth Africa5, uko kwave kuwanikwa ongororo yekuchinja shanduko yeHD. Diagnostic, prenatal, uye kufungidzira kuongororwa kweHD kunowanikwa kumaodzanyemba kweAfrica6, asi kwete munyika dzese dzemuAfrica, zvichiita kuti kuongororwa kunyanye kunetsa. Genetic counseling masevhisi anopihwa zvakare muSouth Africa asi akashomeka zvakanyanya kana kusavapo mune dzimwe nyika dzeAfrica. 

Nezve HTT CAG yakawedzera alleles uye haplotypes, zvichienzaniswa nehuwandu hweEurope neCaucasian, kwaanowanzo kuwanikwa pahaplogroup A, muBlack African and East Asian huwandu, anowanikwa zvakanyanya pane akasiyana akasiyana ehaplogroups AB neC7,8.
Squitieri uye vaaishanda navo9 vakaongorora mavambo emadzitateguru eHD akawedzera alleles mune dzimwe mhuri muOman (nyika yepakati yekumabvazuva) uye yakaratidza kuti mhuri zhinji dzeHD kubva kuMiddle East, kusanganisira nhatu kubva kuOman, dzakagovera haplotype yeA2b yakanga yakafanana neveEurope.

Basa rakawanda rinodiwa mumatunhu aya kuona zvinozivikanwa haplotypes uye alleles kune ramangwana allele chaiyo antisense oligonucleotides kurapa kwechirwere chaHuntington.

Rimwe dambudziko mu genetics yeHD muAfrica kuvepo kwe phenocopies kunyanya chirwere cheHuntington semhando yechipiri (HDL2) ine nzvimbo yakasiyana yejeni uye inodzokorora zvakasiyana; CTG/CAG yekuwedzera shanduko mu exon 2A yejunctophilin-2 (JPH3) gene pachromosome3q16. HDL24.310 ine mufananidzo wekiriniki uye zvakawanikwa zveradiological zvakafanana neHD ine dzimwe shanduko dzisina kujeka2.

Kuwanikwa kwemajini masevhisi ekuongororwa uye kupa mazano kunodiwa zvakanyanya munharaunda mumutengo unonzwisisika. Izvi zvinoda kupa midziyo yakanaka uye kudzidziswa kwakakwana munzvimbo dzakawanda dzakagoverwa mudunhu rose muAfrica neMiddle East uye kufambisa muenzaniso wekufambisa pazvinenge zvichidikanwa. 

Clinical presentation

Mharidzo yechirwere ichi inosiyana-siyana, nemimwe mishumo yakaratidza zviratidzo zvepfungwa zvaive zviratidzo zvinouya pakutanga, asi vamwe vakashuma kufamba kusina kujairika kuve zviratidzo zvekutanga. Zvakadaro pane kudikanwa kwekuve nemacohorts kuratidza phenotypes eHD munyika dzakasiyana mudunhu.

Mapoka ekuziva uye anotsigira

Pane kushomeka kwekuziva nezvechirwere cheHuntigton muAfrica neMiddle East, izvi zvinopawo nyaya dzisina kutaurwa mudunhu iri. Pane dambudziko mukutsvaga mazano ekurapa, uyezve kushomeka kwenyanzvi dzetsinga dzakadzidziswa dzinogona kuziva nekuongorora chirwere ichi. Kune zvakare kushomeka kwerutsigiro rwerutsigiro rwakapihwa varwere nevachengeti vavo muAfrica yese nekumabvazuva kwepakati. Ruzivo pamusoro pechirwere ichi ruchiri kutanga, nerubatsiro rushoma mumitauro yemuno mukuparadzira ruzivo.
Munguva pfupi yadarika kune kumwe kuedza uye zvirongwa zvekusimudzira vanhu nezvechirwere ichi, semuenzaniso hosha yeHuntington Africa seboka revatsigiri https://hd-africa.org/, kuMiddle East kune sangano reOman's Huntington's disease. Pane mamwe matanho muEgypt ekusimudzira ruzivo nekushandura zvimwe zvinyorwa uye kugadzira zvimwe zvedzidzo nezvechirwere ichi mumitauro yechiArab https://ar.hdbuzz.net.

Pane kudikanwa kwekubatana nemasangano epasi rose anopa rubatsiro kuvarwere vane HD nemhuri dzavo semuenzaniso International Huntington's disease Association (IHA), The European Huntington's disease Association (EHA) neHuntington's disease youth organisation (HDYO), uye kukurudzira kuvamba mamwe masangano emunharaunda neematunhu.

Kuwana kutarisira

Kuwanikwa kwekutarisirwa kuchiri kungogumira kuvarwere muAfrica nedzimwe nyika dzeMiddle East. Havasi varwere vese mumatunhu aya vanofukidzwa neinishuwarenzi yehutano, uye vanofanirwa kubhadhara mutengo wakakwira wekurapwa12. The Multidisciplinary care yekubata chirwere ichi hainawo kunyatsosimbiswa, ine zvishoma zvinozivikanwa pamusoro pebasa rekusapindira kwemishonga (eg physiotherapy uye kutaura kwekutaura uye maitiro ekushandisa mumatanho akasiyana echirwere). 

Zvemagariro zvechirwere

Kubva 1980 apo Hyden nevamwe vaaishanda navo13 vakashuma nezvemagariro eHD hapana chakataurwa. Mumushumo wavo vanokurukura mutoro wenzanga, kuzviuraya, utsotsi, uye mutoro woupfumi. Mutoro weHD hauna kukurukurwa zvachose muMiddle East.

Vakadzidziswa neurologists uye nzvimbo dzakakosha

Sezvakataurwa naScrimgeour 2009 chiremba wepakati kuMiddle East anogona kusambosangana kana kuziva nyaya ine HD, kunyangwe paine nyaya dzakawanda dzinotaurwa kubva kunyika dzakasiyana, izvi zvinoshandawo kuAfrica. Chimwe chinetso inhamba isina kukwana yenyanzvi dzetsinga maererano nenhamba yevanhu munyika dzakasiyana-siyana muAfrica neMiddle East.

Kuti akunde dambudziko rekushayikwa kwevadzidzisi vezveuropiyo vakadzidziswa, zvidzidzo zvedzidzo uye kushamwaridzana zvakakosha uye kukurudzira kunyoreswa kwevaneurologist pamwe nevasina-neurologists vanobatanidzwa mukutarisira HD kubva munharaunda. Izvi zvinoitwa zvakanaka nesangano reMovement disorders (MDS) richipa akasiyana makosi ekudzidzisa uye zvekudzidzisa nezve HD. Kuedza uku kwakatonyanya kufarirwa panguva yeCOVID-19 denda apo makosi ese aivepo online mahara kune ese nhengo dzeMDS.

Mumwe mukana wakanaka wevadiki vezveuropiyo ndeye EHDN-MDS Fellowship, iyo inopa kudzidziswa nezvechirwere cheHuntington pane imwe yenyanzvi dzeEuropean nzvimbo. Vanyoreri vanobva kunyika dzine zviwanikwa zvishoma vane mukana wekugara kwemavhiki matanhatu kana zvakadaro uye kudzidzisa nezve kuongororwa uye kutonga kwechirwere, zvakawanda zvakasiyana zvechirwere uye miedzo yekiriniki iripo.

Chimwe chirongwa chakatorwa neIHA ndechekuita misangano kunyika dzechiArab, kusuma chirwere ichi kubva muzvikamu zvaro zvakasiyana uye mabatirwo anoitwa varwere mumatanho akasiyana.

Musangano wekutanga wakaitwa muna Chikumi 25, 2021, muchiRungu, wakakokwa naProf. Bernhard Landwehrmeyer vanobva kuUlm, Germany, uko vazhinji vakurukuri vane hunyanzvi mundima vachapa hurukuro. Musangano uyu wakapa mucherechedzo weHD nematanho ayo akasiyana, kuratidzwa kwemota, hunyanzvi hwekuziva uye hunhu, kuongororwa kwemajini uye kuraira, ruzivo rwevachengeti mune dzimwe nyika dzechiArab, chimiro cheHD kuMiddle East, uye nzira yekudzikisa gaka riri pakati peKumabvazuva nekumadokero nyika mukutarisira HD.

Zvakakodzera kutaura kuti ongororo pfupi yakaitwa pamatambudziko akatarisana nenyanzvi dzetsinga vachibata chirwere cheHuntington muEgypt. Mhinduro kubva kune vatori vechikamu 140 dzakaratidza kuti mhedzisiro yakanonoka kuongororwa (31.9%) kana mhosva dzisina kurongeka, kurapwa kusipo uye hakuna mushonga (21.3%), kusaziva nezvechirwere pakati pevanachiremba uye neruzhinji (19.6%), kuongororwa kwemajini hakuna kukwana, kusipo munzvimbo imwe neimwe (12.3%), kushaikwa kwemaitiro mazhinji (12.3. kushaikwa kwenyanzvi dzine ruzivo, chirwere chisingawanikwe pasina mari yekutsvagisa, hapana nzvimbo dzehunyanzvi, kushomeka kwezvivakwa zvevarwere nemhuri dzavo.14.

Mukupedzisa, chiito chinodiwa muAfrica pamwe nenyika zhinji dziri pakati kuita zvinotevera: kushandisa maregistries emunyika, kuparadzira ruzivo, kupa mamwe makosi edzidzo nemikana yekudzidziswa, kukurudzira kudyidzana muAfrica nekumabvazuva kwepakati pamwe nekudyidzana nedzimwe nyika muminda yekuchengeta varwere uye kutsvagisa, Kugadzira mamwe mapoka anotsigira varwere nemhuri kuti vawedzere kuziva uye kudzima, kupa ruzivo rwekutsvagisa mitauro yemuno. pachirwere chaHuntington muAfrica nekuMiddle East, uye nekutanga nzvimbo dzeHD dzekutarisira zvirinani nekutsvaga.


References:

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  8. Kay C, Collins JA, Caron NS, et al. Iyo yakazara haplotype yekunongedza zano re allele-yakananga HTT kudzvinyirira muchirwere cheHuntington. Ndiri J Hum Genet. 2019;105:1112–1125.
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  12. Mahdy HM. Chirwere cheHuntington munyika dzeArabhu. J Huntingtons Dis 2015;4:205–8. Hayden MR, Ehrlich R., Parker H., Ferera SJ Social Perspectives muHuntington's Chorea. S. Afr. med. l., 58, 201 (1980).
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https://huntington-disease.org/
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