Chirwere cheChorea & Huntington

Kuongororwa kwakaoma sezvo chorea iine zvakafanana phenomenology zvisinei neiyo etiology. Chorea inowanzorongerwa seyekutanga (idiopathic, nhaka) kana yechipiri (yakawanikwa). Hereditary choreiform disorders inowanzokura zvisina tsarukano uye inowanzoenderana, nepo inowanikwa chorea inogona kuve yakaoma kana kuti subacute uye inogona kunge isina asymmetrical kana unilateral. Pane zvikonzero zvakasiyana-siyana zvinoita sezvisingaenderane, kubva pakuzvitakura (chorea gravidarum) kusvika kumarudzi akagarwa nhaka akadai sehosha yaHuntington uye benign hereditary chorea, utachiona/hune chekuita nekudzivirira kwezvirwere zvakaita seSydenham's chorea uye systemic lupus erythematosus, focal vascular lesions in the basal ganglia, zvinodhaka zvakaita selevodopa, metabolic uye oncriral zvakasiyana-siyana. zvirwere zvakadai se hyperthyroidism, hypo / hyperparathyroidism uye hypo / hyperglycemia. Yayo pathophysiology inosanganisira kushanda kwekuita dysregulation yebasal ganglia mota wedunhu, uko yekupedzisira thalamic-cortical kubuda inowedzerwa, zvichikonzera kuwedzera kwekufamba uye chorea. Kuvhiringidzwa kwebasal ganglia circuitry kunogona kunge kuri nekuda kwekukuvadzwa kwechimiro, kusarudza neuronal degeneration, neurotransmitter receptor blockade, metabolic derangements, kana autoimmune mamiriro.

Kurapa kwechorea kunosanganisira kugadzirisa midzi yayo etiology. Nehurombo, hapana mumiriri akaratidzwa kuti anonoke kana kumisa kufambira mberi kwenhaka chorea, kunze kwekurapa-kuderedza mhangura muchirwere cheWilson. Mishonga inonyanyozivikanwa yezviratidzo zvechorea inosanganisira kushandiswa kwe dopamine receptor blocking agents uye dopamine depleters senge tetrabenazine, valbenazine, uye deutetrabenazine. Autoimmune chorea syndromes yakadai se systemic lupus erythematosus (SLE) uye antiphospholipid antibody syndrome inogonawo kupindura kurapwa neglucocorticoids, plasma exchange, kana intravenous immunoglobulin (IVIG).

Yakapihwa naShu-Leong Ho, MD, FRCP
Henry G. Leong Purofesa & Chief of Division University yeHong Kong,
Queen Mary Chipatara
Chikamu cheNeurology, Dhipatimendi reMishonga
Hong Kong

2019 Updates Inopihwa na:

Esther Cubo, MD, PhD
Neurologist
Chipatara Universitario Burgos
Burgos, Spain

Mark Guttman, MD, FRCPC
Director
Center for Movement Disorders
Toronto, ON, Canada

Brandon Barton, MD
Assistant Professor
Rush University Medical Center
Chicago, IL USA

Chirwere chaHuntington chinoratidzwa nekiriniki katatu yemota, yekuziva uye yepfungwa zviratidzo. Motokari zvinhu zvinosanganisira: kukanganisa kwezvisingaiti (chorea) uye kufamba kwekuzvipira; kuderedzwa kwemanyorero dexterity, slurred kutaura, kumedza matambudziko, kuenzanisa matambudziko uye kudonha. Inogonawo kuratidza parkinsonism uye dystonia (inowanikwa mukutanga kwechidiki, inonzi Westphal musiyano). Mamiriro ekuziva anoonekwa pakutanga nekurasikirwa kwekumhanya uye kuchinjika mukufunga, asi gare gare anokura kuita dementia yepasi rose. Zvirwere zvepfungwa zvinogona kusanganisira: kushushikana (kunyanya), kupenga, kumanikidza-kumanikidza kusagadzikana, kugumbuka, kufunganya, kushushikana, kumhanyisa pfungwa, kusakendenga, uye kurega kushamwaridzana.

Definitive diagnostic iri kuburikidza nekuongororwa kwemajini uye kusimbiswa nekwakanangwa mutation kuongororwa kutsvaga kweCAG trinucleotide kuwedzera kwe ≥36 inodzokorora muHTT gene. Predictive genetic testisheni isarudzo kune vanhu vari panjodzi yekukudziridza HD, chikamu chinosanganisira vanhu vasina zviratidzo vane nhoroondo yemhuri yakanaka yeHD, kana varwere vane nhoroondo yemhuri yakanaka vane prodromal zviratidzo (semuenzaniso, kugumbuka, kufunganya, kushushikana, kana kutadza kuziva) izvo zvinoratidzira kutanga kwechiratidzo HD. Pretest genetic counselling inokurudzirwa usati waita zvekufungidzira genetic test. Kumhuri dzeHD, preimplantation genetic test inokwanisika uye nekudaro kusarudza mazai ekutamisa pasina HD genetic mutation. Kuongororwa kwepamuviri kunoitwa chete mumamiriro ezvinhu apo amai vangafunga kubviswa kwepamuviri kana mwana akaonekwa aine HIV. Zvikasadaro, kuongororwa kwepamberi kwakafanana nekuyedza mwana asymptomatic, izvo zvisingakurudzirwe zvine hunhu.

Kumurwere ane chorea ari atypical yeHD kana kuti asina kunaka kune HD genetic mutation, kupatsanurwa kwekuongororwa kwakakura uye kunosanganisira zvikonzero zvekugara uye zvakawanikwa zve chorea. Muzviitiko izvi, MRI yeuropi inogona kubatsira pakuziva imwe nzira yekuongorora, yakadai se ischemic infarction, pantothenate kinase-associated neurodegeneration, multiple sclerosis, neoplasm, kana chirwere cheCreutzfeldt-Jakob. Zvikasadaro, kumwe kuongororwa kunofanirwa kuratidzwa zvichibva panhoroondo yekurapa neyemhuri, bvunzo dzemuviri uye dzetsinga.

Kutarisirwa kwakanakisisa kwevarwere vane HD kunopihwa neboka rakasiyana-siyana revashandi vehutano uye vachengeti vanotsigira vanogadzirisa zvakakura zvemuviri uye zvepfungwa zvinodiwa zvevarwere nemhuri, uye vanogadzirisa nyaya nyowani sezvavanomuka kuburikidza nekutevera kwenguva refu. Dopamine receptor blocking agents kana dopamine depleting agents inogona kushandiswa kana chorea ichikanganisa hupenyu hwehupenyu. Zviratidzo zvepfungwa zvakadai sekuora mwoyo, psychosis uye kubvongodza zvinotungamirirwa zvakafanana sezvimwe zvirwere zvepfungwa. Non-pharmacologic maitiro kune mamwe matambudziko ekushanda uye kusagadzikana kwemaitiro muchirwere chaHuntington kwakakosha Kusina-pharmacological kupindira kunosanganisira kurapa kwekutaura uye kudya kunoitirwa kubata dysphagia uye kurasikirwa uremu, murapi wepanyama kugadzirisa gait impairment uye kudonha, Sezvineiwo, hapana inozivikanwa inoshanda kurapa kwedementia yakabatana neHD. Kuvhiyiwa kweStereotactic (DBS) kwenyaya dzakakomba uye dzinoremadza dzechorea dzakataurwa. Kuongorora marapirwo akadai kunyarara kwemajini kuburikidza neantisense oligonucleotide matekiniki ari kuenderera mberi.

Yakanyorwa naHubert Fernandez, MD
Musoro, Movement Disorders
Dhipatimendi reNeurology
Cleveland Clinic
Cleveland, Ohio USA
 

2019 Kugadziridzwa naEsther Cubo, MD, PhD naMark Guttman, MD, FRCPC