{"title":"Rett综合征的病因和治疗","authors":"Karl Hauns","doi":"10.35248/2155-9562.21.12.542","DOIUrl":null,"url":null,"abstract":"Rett condition (RTT) is a hereditary problem that regularly gets evident following 6–year and a half old enough in females. Manifestations remember disabilities for language and coordination and tedious movements.Those influenced frequently have more slow development, trouble strolling, and a more modest head size. Inconveniences of Rett condition can incorporate seizures, scoliosis, and dozing issues. The seriousness of the condition is variable[1]. Hereditarily, Rett condition (RTT) is brought about by transformations in the quality MECP2 situated on the X chromosome (which is engaged with transcriptional quieting and epigenetic guideline of methylated DNA), and can emerge inconsistently or from germline changes. In under 10% of RTT cases, transformations in the qualities CDKL5 or FOXG1 have additionally been found to take after it.[medical reference needed] Rett disorder is at first analyzed by clinical perception, yet the analysis is authoritative when there is a hereditary imperfection in the MECP2 quality.","PeriodicalId":16455,"journal":{"name":"Journal of Neurology and Neurophysiology","volume":"1 1","pages":"1-1"},"PeriodicalIF":0.0000,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Causes and Management of Rett Syndrome\",\"authors\":\"Karl Hauns\",\"doi\":\"10.35248/2155-9562.21.12.542\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Rett condition (RTT) is a hereditary problem that regularly gets evident following 6–year and a half old enough in females. Manifestations remember disabilities for language and coordination and tedious movements.Those influenced frequently have more slow development, trouble strolling, and a more modest head size. Inconveniences of Rett condition can incorporate seizures, scoliosis, and dozing issues. The seriousness of the condition is variable[1]. Hereditarily, Rett condition (RTT) is brought about by transformations in the quality MECP2 situated on the X chromosome (which is engaged with transcriptional quieting and epigenetic guideline of methylated DNA), and can emerge inconsistently or from germline changes. In under 10% of RTT cases, transformations in the qualities CDKL5 or FOXG1 have additionally been found to take after it.[medical reference needed] Rett disorder is at first analyzed by clinical perception, yet the analysis is authoritative when there is a hereditary imperfection in the MECP2 quality.\",\"PeriodicalId\":16455,\"journal\":{\"name\":\"Journal of Neurology and Neurophysiology\",\"volume\":\"1 1\",\"pages\":\"1-1\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2021-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Neurology and Neurophysiology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.35248/2155-9562.21.12.542\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Neurology and Neurophysiology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.35248/2155-9562.21.12.542","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Rett condition (RTT) is a hereditary problem that regularly gets evident following 6–year and a half old enough in females. Manifestations remember disabilities for language and coordination and tedious movements.Those influenced frequently have more slow development, trouble strolling, and a more modest head size. Inconveniences of Rett condition can incorporate seizures, scoliosis, and dozing issues. The seriousness of the condition is variable[1]. Hereditarily, Rett condition (RTT) is brought about by transformations in the quality MECP2 situated on the X chromosome (which is engaged with transcriptional quieting and epigenetic guideline of methylated DNA), and can emerge inconsistently or from germline changes. In under 10% of RTT cases, transformations in the qualities CDKL5 or FOXG1 have additionally been found to take after it.[medical reference needed] Rett disorder is at first analyzed by clinical perception, yet the analysis is authoritative when there is a hereditary imperfection in the MECP2 quality.