Daga cikin rikice-rikice da yawa da yarinya za ta iya fama da su shine abin da ake kira Maimaitawar ciwo, cutar da likitan Austriya Andreas Rett ya gano a shekara ta 1966 - saboda haka sunan ta - kuma yana da alamun ƙara lalacewa da ke da nasaba da gazawar ci gaban jijiyoyin jiki.
Kodayake yana iya shafar maza, Rett Syndrome yana faruwa kusan kusan yan mata ko manyan mata. Cutar cuta ce da ke farawa tun yarinta kuma yana kara munana yayin shekaru. Tsananin shari'ar na iya bambanta daga mutum zuwa mutum, kodayake abin da duk suka yi tarayya a ciki shi ne cewa da farko girma da bunƙasar 'ya mace ko yaro daidai yake har sai alamun farko sun fara.
Tushen matsalar
El Rett Syndrome na haifar da maye gurbi daban-daban, wanda zai iya zama daga lahani zuwa canje-canje, a cikin Kwayar MECP2. MeCP2, sunadarin dake shafar tsarin biochemical na jiki kuma idan baya aiki daidai, yana nuna wasu kwayoyin ne su daina samar da sunadarin nasu.
Ta hanyar canza wannan asalin na farko, yana haifar da canjin tsarin gabaɗaya Don haka wasu kwayoyin halittar ke kunnawa a wasu lokutan da bai kamata ba, don haka samar da sunadarai ga wasu, wanda ke haifar da canjin yanayin kwayar halitta da kuma matsalolin ci gaban jijiyoyin jiki.
Ya zuwa yanzu, kusan 80% na yaran da aka gano suna da maye gurbi a cikin kwayar halittar MECP2, kodayake a sauran yanayin bayyanar cututtukan zai haɗu da maye gurbi a wasu kwayoyin halittar da ba a gano su ba ko wasu sassan jinsi ɗaya.
Ba kamar sauran rikice-rikicen da ke da alaƙa da halittar jini ba, Ba a gaji cututtukan Rett ba amma yana faruwa ne ta hanyar maye gurbi. Kashi 1% ne kawai na shari'o'in da aka yi wa rijista har zuwa yau ya faru ne sanadiyyar watsawa daga zuriya zuwa zuriya.
Abubuwa da matakai na Rett Syndrome
Kodayake mun faɗi hakan a farkon yara masu fama da cutar Rett Syndrome ci gaban yau da kullun, akwai lokacin da alamun farko, wanda zai iya zama duka na jiki da na tunani.
Mafi yawan lokuta a matakin farko sune:
- Hypotonia ko asarar sautin tsoka
- Rashin amfani da hannu da magana da son rai.
- Matsaloli na rarrafe ko tafiya
- Asarar ko rage idanun ido
- Motsa hannu masu tilastawa (kamar shafa ko wanke hannu)
- Apraxia ko rashin iya yin aikin mota, don haka canza duk motsin jiki.
- Halayen Autistic
Baya ga alamun cututtukan da aka ambata, wasu alamun alamun na Rett Syndrome na iya zama:
- Matsalar bacci
- Yin tafiya a kan ƙwallon ƙafafunku ko tare da ƙafafunku a raba
- Matsalar taunawa
- Nika ko cizon haƙora
- Seizures
- Untarfafa girma
- Rashin nakasa da aka danganta da ilmantarwa
- Matsaloli a numfashi (apneas, burin iska, hauhawar jini).
El Ciwon Rett yana gabatar da matakai 4 takamaiman: wannan na Da wuri fara, wanda ya fara tsakanin watanni 6 zuwa 18 kuma yana da wahala a rarrabe saboda alamun ba zasu iya fahimta ba sannan kuma mataki na II ko Matakin Rushewar Gaggawa, wanda ke faruwa daga shekara 4 zuwa XNUMX, wani mataki wanda a ciki, musamman, saurin saurin ko saurin ci gaba na alamun motsin hannu da magana. Mataki na gaba shine Abarfafawa ko matsakaiciyar mataki (2 zuwa 10 shekaru) kuma yana iya ɗaukar shekaru don ƙarshe shiga mataki na IV, the Matakin Lalacewar Motar Late, wanda ke ɗaukar shekaru ko shekarun da suka gabata kuma yana gabatar da raunin motsi, taurin tsoka, spasticity da dystonia, a tsakanin sauran alamun.
Bayyanar cututtuka da magani
Duk da yake babu magani ga cutar Rett Syndrome, magani yana damuwa da magance alamun bayyanar cututtuka yayin da suke faruwa daga tsarin fannoni da yawa. Akwai magani da aka tsara don sarrafa alamun, daga matsalolin numfashi zuwa matsalolin mota zuwa kamuwa.
La aikin likita, maganin jiki da warkar da ruwa taimakawa mai haƙuri don haɓaka ikon iya sarrafa kansa yayin taimaka wa tsawan motsi. Amfani da ƙyallen, ƙwanƙwasawa da sauran abubuwan da ke taimaka musu sarrafa motsi da matsaloli shima ya zama ruwan dare.
Duk da hangen nesa, yawancin mutane da wannan cuta suna rayuwa har zuwa girma, kodayake ba a san tsawon rai ba saboda ita wata cuta ce mai saurin faruwa.