Pakati pezvinetso zvakawanda izvo musikana anogona kutambura pane izvo zvinonzi Rett chirwere, chirwere chakaonekwa muna 1966 nachiremba weAustria Andreas Rett - ndosaka zita racho - uye chinoonekwa nekuwedzera kudzikira kwakabatana nekutadza mukukura kwetsinga.
Kunyangwe ichikanganisa vanhurume, Rett Syndrome inoitika ingangoitika chete muvasikana kana vakadzi vakuru. Icho chirwere chetsinga chinotangira muhudiki Uye zvinowedzera kuwedzera nekufamba kwemakore. Kukura kwenyaya yacho kunogona kusiyana kubva pamunhu kuenda kune mumwe, kunyange hazvo chavano govana vese ndechekuti pakutanga kukura uye kukura kwemusikana kana mukomana zvakajairika kusvikira zviratidzo zvekutanga zvatanga.
Mudzi wedambudziko
El Rett syndrome inokonzerwa nekuchinja kwakasiyana, iyo inogona kutangira kubva mukukanganisa kusvika mukuchinja, mune MECP2 geni, geni rinowanikwa mukati mechromosome X. Maererano neongororo yakaitwa muna 1999, iri geni rinodzora mashandiro evamwe uye rinobatana nekuumbwa kwemethyl cytosine inosunga protein 2 kana MeCP2, puroteni inobata masisitimu emuviri uye kana ikasashanda nemazvo, inoratidza mamwe majeni kuti arege kuburitsa mapuroteni awo.
Nekuchinja iyi yekutanga geni, inokonzeresa shanduko yakajairika yesystem Uye saka mamwe magene anogoneswa panguva dzaasingafanirwe, zvichidaro kugadzira mapuroteni kune vamwe, izvo zvinokonzeresa shanduko yepasi rose yeiyo muviri uye nezvinetso zvinotevera zvekukura kwetsinga.
Parizvino, vangangoita makumi masere muzana evana vanoonekwa kuti vane shanduko mune MECP80 geni, kunyangwe mune dzimwe dzese kutaridzika kwechirwere ichi kuchabatana nekuchinja mune mamwe majeni asati azivikanwa kana zvimwe zvikamu zveiyo geni.
Kusiyana nezvimwe zvinetswa zvine chekuita nemageneti, Rett syndrome haina kugarwa nhaka asi inoitika nekuchinja kushanduka. Chete 1% yematambudziko akanyoreswa kusvika pari zvino ari nekuda kwekutapurirana kubva kuchizvarwa kuenda kuchizvarwa.
Hunhu uye matanho eRett Syndrome
Kunyangwe isu takataura izvozvo pakutanga iyo vana vane Rett Syndrome parizvino kusimudzira, kunouya nguva apo iyo zviratidzo zvekutanga, izvo zvinogona kuve zviri zviviri zvepanyama uye zvepfungwa.
Anonyanya kuitika mudanho rekutanga ndeaya:
- Hypotonia kana kurasikirwa kwemhasuru toni
- Kutadza kushandisa maoko nekutaura nekuzvidira.
- Zvinetso zvekukambaira kana kufamba
- Kurasikirwa kana kuderera kwekutarisana kwemaziso
- Kumanikidza maoko kufamba (sekukwesha kana kugeza maoko)
- Apraxia kana kusakwanisa kuita mota mashandiro, nekudaro kuchinjisa mafambiro ese emuviri.
- Autistic maitiro
Pamusoro pezviratidzo zvataurwa, zvimwe zviratidzo zveRett Syndrome zvinogona kuva:
- Zvinetso zvekurara
- Kufamba pamabhora etsoka dzako kana nemakumbo ako akaparadzana
- Kutsenga matambudziko
- Kukuya kana kugeda-geda kwemeno
- Kubatwa
- Kukundikana kukura
- Kuremara kwekuziva kwakabatana nekudzidza
- Dambudziko mukufema (kufema, kufema kwemweya, hyperventilation).
El Rett syndrome inopa zvikamu zvina yakanangana: iyo ye Kutanga kutanga, inotanga pakati pemwedzi mitanhatu negumi neshanu yemakore uye yakaoma kusiyanisa sezvo zviratidzo zvinogona kunge zvisingaoneki uyezve nhanho yechipiri kana Kukurumidza Kuparadza Stage, inoitika kubva pagore rimwe kusvika kumana, danho umo, kunyanya, shanduko inokurumidza kana zvishoma nezvishoma yezviratidzo zvemota zvechanza nekutaura zvakanyorwa. Chikamu chinotevera ndicho Kudzikamisa kana pseudo-yakamira nzvimbo (Makore maviri kusvika gumi) uye zvinogona kutora makore kuti upinde muchikamu IV, iyo Kunonoka mota Kudzikira Chikamu, iyo inogara kwemakore kana makumi emakore uye inopa kuderedzwa kwekufamba, kuomarara kwemhasuru, kusimba uye dystonia, pakati pezvimwe zviratidzo.
Kuongororwa uye kurapwa
Nguva hapana mushonga weRett Syndrome, kurapwa kune chekuita nekugadzirisa zviratidzo sezvazvinoitika kubva munzira dzakasiyana siyana. Kune mushonga wakagadzirirwa kudzora zviratidzo, kubva pakunetseka kufema kusvika kumatambudziko emota kusvika pakubatwa.
La kurapwa kurapwa, kurapwa kwemuviri uye hydrotherapy batsira murwere kuti awedzere kugona kwake kuzvimiririra asi achibatsira kuwedzera kufamba. Iko kushandiswa kwezvimedu, zvimedu uye zvimwe zvinhu zvinovabatsira kudzora mafambiro uye matambudziko zvakajairika.
Kunyangwe kufungidzira, vanhu vazhinji vane chirwere ichi vanorarama kusvika pakukura, kunyange zvakadaro tarisiro yehupenyu haizivikanwe nekuti iri chirwere chisingawanzo.