Rett syndrome
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Epidemiology
- occurs almost exclusively in females; few males survive
Genetics
- can be caused by mutations in methyl-CpG-binding protein 2 (MECP2) gene.
Clinical manifestations
- patients develop normally until ~6-18 months, then deteriorate, with
- loss of speech & purposeful use of the hands
- severe dementia
- autism
- seizures[3]
- truncal ataxia
- microcephaly
- symptoms stabilize & patients live to adulthood
- severe neonatal encephalophy in males
Laboratory
- MECP2 genotyping
- see ARUP consult[2]
Management
- trofinetide (Daybue) FDA-approved March 2023
More general terms
- pervasive developmental disorder; autism spectrum disorder (ASD)
- genetic disease of the central nervous system
More specific terms
Additional terms
References
- ↑ Amir RE et al. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nature Genetics 23:185-8, 1999 PMID: https://www.ncbi.nlm.nih.gov/pubmed/10508514
- ↑ 2.0 2.1 ARUP Consult: MECP2-Related Disorders - Classic or Atypical Rett Syndrome The Physician's Guide to Laboratory Test Selection & Interpretation https://www.arupconsult.com/content/rett-syndrome-classic-or-atypical
ARUP Consult: MECP2-Related Disorders - Rett Syndrome Testing https://arupconsult.com/ati/mecp2-related-disorders-rett-syndrome-testing - ↑ 3.0 3.1 Jian L, Nagarajan L, de Klerk N et al Seizures in Rett syndrome: an overview from a one-year calendar study. Eur J Paediatr Neurol. 2007 Sep;11(5):310-7. Epub 2007 Apr 11. PMID: https://www.ncbi.nlm.nih.gov/pubmed/17433737
Patient information
Rett syndrome patient information