Uyu Mbudzi 17, iyo International Smith Magenis Syndrome Zuva. Ichi chirwere chisingawanzozivikanwa mukutanga kwema80 naAna Smith naEllen Magenis, ndokusaka rakatumidzwa zita iri. Iyi syndrome ine seti yezviratidzo, epanyama uye maitiro ehunhu hwakasiyana, pamwe neakateedzana ekuberekwa anomalies.
Yake zviratidzo, hunhu, uye kufambira mberi kwekutsvagisa kuri kuitwa ino chinyorwa kubata, iyo yatinodawo kukuzivisa iwe kuSpanish Smith Syndrome Association -Magenis, sangano rinobatsira risingabatsiri.
Zvinokonzera uye zviratidzo zveSmith Magenis syndrome
Zvichitsanangurwa, Smith Magenis syndrome, nechidimbu cheSMS, hunhu husina kujairika hunokonzerwa nekubviswa pane chromosome 17. Ndicho chirwere chemajini, asi kazhinji hachina kugarwa nhaka, sezvazvinogadzirwa nenjodzi itsva inoshanduka inoitika panguva yekuumbwa kwezai kana urume. Neichi chikonzero, vazhinji vevarwere vane dambudziko havana nhoroondo yemhuri.
Fungidziro ndeyekuti Smith Magenis syndrome inowanikwa mune mumwe muvanhu makumi maviri nemashanu ekuberekwa, kunyange hazvo mamwe masosi achangoburwa akaumba kuwanda kwe 1 yega yega zviuru gumi nezvishanu zvakununurwa. Ngozi yekudzokazve mune nhumbu nyowani yevaviri inosvika makumi mashanu muzana.
Zviratidzo zvinononoka kungwara uye kusimudzira mutauro, nekurasikirwa kwekunzwa kwekunzwa. Anomalies mudehenya uye kumeso zvine hunhu uye dzimwe nguva zvinoitika muzvigunwe uye musana, ne scoliosis, brachydactyly, uye polydactyly. Kusagadzikana kwezvimwe nhengo zvakajairika, kunyanya moyo, renal, uye epakati system system kusagadzikana. Zvakajairika kuti vana vane maSMS vave nehunhu hwekuzvibata uye kurara mutinhimira, nekurara kwenguva pfupi masikati uye kumuka kazhinji husiku.
Kurapa uye kutsvagurudza kwazvino
Sezvimwe mune zvimwe zvirwere, zvinosuwisa hapana kurapwa kunorapa yevana vane Smith Magenis syndrome. Kuongororwa kwechimbichimbi kwakakosha, kunyanya kumhuri, sezvo ichivabvumidza kudzidza nezvechirwere ichi uye kugadzirira matambudziko anouya. Matanho ekurapa anoenderana nekutonga kwezviratidzo, zviyero zvemuviri uye rutsigiro rwepfungwa.
Sezvo isu takaunganidza kubva kuSmith Magenis Syndrome Spanish Association, sainzi yekugadzira pazvirwere zvisingawanzoitika muSpain uye pane iyi syndrome kunyanya ishoma kana kusavapo. Mamwe ematambudziko akasangana nevatsvakurudzi kushaikwa kwekuzivikanwa kwevarwere, ruzivo rushoma uye kufarira kwevanachiremba uye vezvepfungwa nezvechirwere uye nenzvimbo dzakapararira. Muna 2020, mamiriro ezvinhu anokonzerwa ne Covid-19 ine kumwe kufambira mberi kwakaomarara mune kumwe kuferefeta uko kusinei nedenda iri.
MuFrance nedzimwe nyika dzakavakidzana, kuwedzera kuUnited States, hongu kuferefetwa kuri kuitwa, kunyanya zvine chekuita nezvehunhu hwekuzvibata uye kurara kune varwere vane maSMS.
Sangano reSpanish reSmith-Magenis Syndrome, ASME
Echinangwa chekutanga chesangano kuvandudza hupenyu hwehupenyu yevanhu vane Smith Magenis syndrome. Sangano rinokurudzira mhando dzese dzehurongwa dzinobatsira mukuparadzira uye kuferefeta chirwere. Nhasi, mabhazi emadhorobha eSan Sebastián anotakura chiratidzo chinotaura nezvechirwere.
Kuburikidza newebhusaiti a chiridzwa chinotungamira mhuri, vanachiremba, vadzidzisi, uye vamwe vanyanzvi. Mariri mune kutsanangurwa kwakadzama uye kwakadzama kweiyo syndrome, yematanho anoitwa nevana, kubva kuvacheche kusvika kune vachiri kuyaruka. Iko kune zvakare zvekutsvagisa zvinhu uye zviitiko zvezviitiko zvinogona kutorwa pasi.