Article Per Year (5 Year)
p-Index From 2021 - 2026
0.23
P-Index
This Author published in this journals
All Journal Jurnal Biodiversitas dan Bioteknologi
Elisca Nurhayati
Departemen Bioteknologi, Fakultas Sains dan Teknologi Universitas Muhammadiyah Bandung

Published : 1 Documents Claim Missing Document
Claim Missing Document
Check
Articles

Found 1 Documents
Search

 1 
Sindrom Rett: Kelainan Genetik Penyebab Disabilitas Intelektual Nisa Ihsani; Elisca Nurhayati; Tabina Khalishah Dzikra Dzakirah; Yesi Repani
Jurnal Biodiversitas dan Bioteknologi Vol 1 No 1 (2024): Biodiverse: Jurnal Biodiversitas dan Bioteknologi
Publisher : Jurnal Biodiversitas dan Bioteknologi

Show Abstract | Download Original | Original Source | Check in Google Scholar

Abstract

Rett Syndrome (RTT) is a rare genetic disorder affecting early neurological development that has a mutation linked to the X chromosome in the MECP2 gene that codes for methyl CpG-binding protein 2, resulting in loss of function. Typical symptoms of Rett Syndrome are impaired communication and loss of speech, loss of hand use, repetitive, involuntary hand movements such as hand washing, loss of mobility, or difficulty walking. Rett Syndrome is very rare in Indonesia. It occurs in 1 in 10,000 - 15,000 children. A specific treatment cannot treat Rett Syndrome. However, treatment can be done for the symptoms, including sleep disorders, eating disorders, seizures, and self-injurious behavior. Trefinetide is one treatment that is specific to the main symptoms of Rett Syndrome.
Co-Authors Nisa Ihsani Tabina Khalishah Dzikra Dzakirah Yesi Repani