Thelansis

 Rett syndrome (RTT) is a rare genetic neurological disorder that predominantly affects girls, leading to severe impairments in virtually every aspect of a child's life. These impairments encompass their ability to speak, walk, eat, and breathe comfortably. Typically, Rett syndrome becomes apparent in children between 6 and 18 months when they start missing developmental milestones or regressing in skills they had previously acquired. The underlying cause of RTT is mutations in the MECP2 gene on the X chromosome. Furthermore, the early-onset seizure variant, known as the Hanefeld variant, is frequently associated with mutations in the X-linked CDKL5 gene (Xp22). In rare cases, a translocation involving the NTNG1 gene (1p13.2-p13.1) has been identified in patients with early seizures and atypical RTT. The congenital variant, also known as the Rolando variant, is generally caused by mutations in the FOXG1 gene (14q11-q13). The management of Rett syndrome primarily involves symptom al...

  Rett syndrome (RTT) is a rare genetic neurological disorder that primarily affects girls and causes severe impairments in nearly every aspect of the child's life, including their ability to speak, walk, eat, and even breathe easily. Rett syndrome is usually recognized in children aged 6 to 18 months when they begin to miss developmental milestones or lose previously acquired abilities. RTT is caused by mutations on the X chromosome on a gene called MECP2. The early-onset seizure type (Hanefeld variant) is frequently caused by mutations in the X-linked CDKL5 gene (Xp22). A translocation involving the NTNG1 gene (1p13.2-p13.1) has also been identified in a patient with early seizures and atypical RTT. The congenital variant (Rolando variant) is generally caused by mutations in the FOXG1 gene (14q11-q13). The prevalence of Rett syndrome varies worldwide; in the USA, the estimated prevalence is 0.45 to 0.76 cases per 10,000 females aged 2 to 18 years. Germany is the lea...