Chirwere pachiyero genetics - Joubert urwere

Zvinosuruvarisa kuti pasinei zvose kukura zvokurapa, kuramba mushonga chirwere kuti isu hatigoni. Somuenzaniso, Joubert chirwere uye vazhinji vakanga sokuti chete zita rakanaka asina dudziro yakajeka, uye ichi ndicho majini chirwere pakati cerebellum kukanganisa upenyu uye hutano hwehama. Kureva, mumwe munyama zvinouraya kana chirwere chinogona kudziviswa? Pamwe here kuporesa kana kanenge kuziva vachiri Danho? Unoziva chavanoziva pamusoro chisinganzwisisike chirwere? Ngationei.

Imhandoi kurwiswa

Saka, Joubert syndrome. Chii? Kana shoko rimwe, zviri dambudziko. Kana ukapa uwane mhinduro, tinogona kutaura kuti chirwere ichi haiwanzowaniki, sezvinei, maperembudzi pamwe hypoplasia kana pasina cerebellar vermis kwakakwana ndiye anokonzera mwero uye Kufambisa. Murwere havaratidzi kuumbwa uropi hunde, uye saka angava kufema kukundikana, kusvikira chemabhazi. Vanhu vanogona kuona kanganisika fambisa maziso uye rurimi, ungaderedza tsandanyama matauriro. The chirwere vanachiremba kupa pashure kurapwa zvaanorumbidza uye kuziva maitiro zvaidiwa cerebellar vermis hypoplasia, asi zvaro elongation uye thickening makumbo kumberi. Zvikasadaro, inonzi chiratidzo "matadza". Ndeakaita date pakakoromoka chete pashure MRI zveBhaibheri wouropi. Haiwa, Joubert chirwere chinogona Kutamiswa nhaka.

kwemajini

To musi, maviri akaratidza Gene kunotouraya kuti anonamata nomukurumbira syndrome. All chokuita nyonganyonga haiwanzowaniki autosomal recessive nyonganyonga dzinoratidzwa pave ne kwese uye zvinoita malformations pamusoro cerebellum uye pfungwa hunde. The increment kuti akati pathologies Joubert chirwere achiperekedzwa hypotension, kunonoka kukura, kufema uye zvirwere ziso. Vana vane chirwere ichi kazhinji kufa vasati kuongorora chirwere. The chete akanaka chinhu - chiduku Kupararira hosha - 1 muna 80,000 vanhu.

nhoroondo mashoko

Kokutanga Joubert chirwere akaziviswa muna 1969 maererano wetsinga French Mari Zhuber. Iye vakarondedzera nevanin'ina zvina kufema, zvemamiriro ziso, retardation mupfungwa uye cerebellar vermis vasipo. Mushure vakaperekedza chidzidzo researches kwakaratidza kuti ichi mhando chirwere kunoitika munyika yose pasina rwedzinza uye madzinza. Kuchengeteka chirwere chingava panguva padariro kusimudzira embryo kwevanhu, sezvazvakanyorwa vaidavira kuti kukanganisa kukura embryonic uropi zvinotungamirira nekuratidzwa syndrome. In tsika, syndromes vakawanda nemagene kunotouraya vane zviratidzo zvakafanana, asi Joubert chirwere kusiyanisa ocular abnormalities, hypotonia achiri mucheche uye kufema zvirwere.

Zviratidzo uye zviratidzo

Kana tikaongorora Joubert urwere, zviratidzo zvinogona pakutsvaga Neural Achipindura; Kunoratidza kunotoda heterogeneity dzakasiyana zvakasiyana, zvishande vanotaura, matambudziko nokutaura uye pfari. Kupfuura chetatu varwere kuona auditory zvirwere uye matambudziko zvounhu. Kashoma, asi zvinoitika kuti hworatidza hydrocephalus uye occipital encephalopathy. A kota varwere vakawana chirwere cheitsvo: cystic displzaii uye vachiberekwa hepatic fibrosis. Kufanana vanhu vane chirwere cheDown syndrome, munhu nechirwere Joubert chirwere angava stereotypical zvinhu: chiso refu, akakurumbira huma, yakakwirira yokufeva nechapamusoro, mativi muromo, upturned mhino, yakabudikira chirebvu, uye shoma-akaisa nzeve. Nokuti vana pane kukura retardation uye dambudziko iri kufamba. assistive mano kazhinji zvinoda kuti kufamba.

How kurapa

Chaizvoizvo unofanira chete kubvuma? Kwete napaduku, mberi genetics ndapa tariro kuvandudza uye kurapwa zvirwere. Tinofanira kutanga kudzidza nhoroondo yemhuri, dzinza zvinoriumba kuitisa zvizere kuzviongorora murwere. Matambudziko kufema zvinoda zvichiongororwa kufema, anokosha nzira kugamuchira uye Hardware rutsigiro kufema. Dzimwe nguva zvakakodzera neurosurgical kupindira nemishonga kudzora pfari. Muchidimbu, chinogona kurapwa pamwe Joubert urwere, zvinokonzera zvakanga kudzidzwa uye kunzwisisa.

Kushurudzira remangwana

Izvi hazvisi izvo tariro ezvinhu vakawana Joubert syndrome. Photos wavarwere ava havana pakarepo kupa mufananidzo wakakwana yavo zvakaitika, uye zvimwewo zviratidzo kuonekwa pedyo nokukwegura. Vamwe vanogona kurarama akazvimirira uye zvibereko upenyu ndicho chokwadi, akapa Kutsigira hanya hwose refu. Man aifanira kugara tichiongorora nhengo zvose, kuongorora Kuwanikwa zvinodhaka zvakakodzera. External zvaunokanganisa vangapikisa kuburikidza vachiberekwa anomalies, zvakadai mumukaha muromo, polydactyly kana zvemamiriro nemamiriro oropharynx. Dzimwe nguva kunyanyisa uwandu tsinga muuropi anogona kuchengetwa. Chokwadi bhomba nguva anogona jerk chero miniti. For upenyu ramangwana kunoenderana zvachose ukuru kuparadzwa cerebellum. Nemamwe mashoko, murwere anogona kuona kuva injini diki kana zvinetso zvepfungwa, uye kugamuchira vakaremara uye kuramba chakakomba ezvinhu pasina tariro yokuti. With chirwere ichi hazvigoni kusiya vana vasina akavatarisa pamwe kufema kukundikana. In mukurota vakakoniwa kungorega zvichivhunga. Zvinoda kugara kuongororwa nachiremba kuti kuongorora mamiriro zvomukati. The zvakanaka mwana ane kubatsira kurovedza uye kudzidzisa pamusoro pokumuka mweya. In pakurapa zvomusejari matanho kungaratidzwa, somushonga, uye zvishoma invasive kuvhiyiwa.