Parsley chirwere - chirwere anogara "anofara" munhu

Parsley Syndrome, aizivikanwa madenderedzwa kwesayenzi Angelman chirwere, mumwe zvokurwara neuro-majini kuti kunoratidzwa kunonoka pave zvedzidzo uye mumuviri parameters ari munhu, mutemo kurara modes uye takamuka, nezvipusha, kamwe uye sechisina musoro fambisa maoko nemakumbo. With chiso chomunhu haasiyi kunyemwerera, nguva dzose anoseka pasina chikonzero, uye anotarisa zvikuru vanofara. Ruoko kufamba zvakawanda zvakafanana maoko, kuombera. Parsley Syndrome ainziwo Syndrome puppets vanofara, sezvo vanhu vanorwara vane mudhori mutsa, ane kugara uchinyemwerera pachiso chake uye duku kakawanda twitching maoko, akatsivama panguva kugokora - a bvudzi kwakaita noupamhi sezvo wavanongoshandisa chidzoyi, parukungiso zvakatuswa kushanda pedyo puppeteer.

Kokutanga ino zvokurwara majini paakarondedzerwa 1965 naDr Harry Angelmanom wevana, akatarira vana vatatu vakaremara kukanganiswa chirwere ichi. Yaiva nguva yokutanga uye varwere vake kunzi "chidzoyi vana." Kutaurwa kunozoitwa nezva hosha akazviratidza muna US mukutanga 80s. Parsley Syndrome - a zvakajairika chirwere. The kakawanda chiitiko wayo Statistical Data Washington University (USA) 1: 20,000 vachangoberekwa.

Majini Angelman chirwere kunokonzerwa nokushayikwa majini dzinoverengeka chromosome 15. Mune zvimwe zviitiko, kukwana deletion, kureva kurasikirwa Gene nharaunda, kana mutation kuti rechi15 somatic chromosome. Kazhinji kunokanganisa rwaamai chromosome, iyo wabva amai mudumbu. Asi rinogonawo dzaparadzwa nababa vake, umo kana chirwere rinozivikanwa Prader-Willi syndrome. The karyotype womunhu schematically runotaurwa sezvo XX kana 46 xy, 15r-. Vaingoerekana chromosomal urema kunoratidzwa kusavapo hombe contiguous nharaunda yakakura nhamba (kusvika 3-4 miriyoni) yegwara DNA nezvigadziko munzvimbo q11-q13 migove 15 fung chromosome. ongororo Independent kuzarura zvinokonzera mutational kuchinja izvi zvinokonzerwa mutational kuchinja UBE3A Gene. Zvinobikwa Gene iri rokuti enzayemu munhu kunzwisisa ezvinhu mapurotini kudzikisirana. Parsley anogona rokuongorora kuti chirwere kubudikidza magene kuongorora.

Vana vachitambura kubva Angelman chirwere pauduku nezvinetso zvokudya, kunyanya mu mangwanani mucheche, havaiti uremu. Papera chinguva, ungacherechedza munhu kunonoka injini kukura mwana rwevanhu unyanzvi, ndiro rava chaizvo kutanga kugara uye ufambe. Pane chakaipa, kutaura murombo. Vana ava zvikuru kuziva pane vanogona kutaura kana nemashoko.

Pachikoro zera, pane zvinetso zvikuru pamwe Kurovedza vaya nechirwere Parsley urwere, vakomana ava vanogona kuverenga tanetseka chaizvo. Vane inattentive chaizvo uye hyperactive. Tsviyo uye kujairika kufamba, kunyanya tremor yakanaka, uye ita mhirizhonga fambisa maoko nemakumbo, kakawanda kuseka pasina kusiyanisa vana ava. Varwere vakachengeta anozivikanwa gait - stiffly. Imhaka chikamu ichi, dzinonzi puppets. ivo vane musoro diki ine zvishoma flattened shure musoro, muromo, akakurumbira chirebvu, Makwanza guru pakati pameno uye yakabudikira rurimi. Mukuwedzera, hafu varwere vane strabismus, scoliosis uye aikanganiswa akakwidziridzwa tembiricha.

Parsley Syndrome pari asina chaizvo mishonga, asi kuti kuvandudza upenyu wevarwere runobvira tichibatsirwa matanho anoverengeka kuchirapa. Vacheche kuita masaja, vanopedza physiotherapy. At vanoenda kukireshi zera vana zvaisanganisira kutaura varapi uye kutaura pathologists. Kuti normalize hope iye waakaudzwa uvete nyore. Zvipusha pfari vari kubatwa anticonvulsants. Kazhinji, vana vanodzidziswa mutauro wemasaini.

Parsley chirwere vangangova kukanganisa vakomana, asi vasikana vari zvakare kubatwa nezvirwere ichi. In okurapa, nyaya pamuviri mumwe mukadzi ane kufara chidzoyi chirwere, uyo akabereka musikana, zvakare, "anofara." mutengo mufaro kwakadaro varwere dzevanhu chete ari kusimba yakakwirira ...