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Rett syndrome
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:
1) patients develop normally until ~6-18 months, then deteriorate, with
a) loss of speech & purposeful use of the hands
b) severe dementia
c) autism
d) seizures [3]
e) truncal ataxia
f) microcephaly
2) symptoms stabilize & patients live to adulthood
3) severe neonatal encephalophy in males
Laboratory:
- MECP2 genotyping
- see ARUP consult [2]
Management:
- trofinetide (Daybue) FDA-approved March 2023
Related
methyl-CpG-binding protein 2; MeCP-2 protein; MeCP2 (MECP2)
Specific
epileptic encephalopathy early infantile type 2; atypical CDKL5-related Rett syndrome
General
genetic disease of the central nervous system
pervasive developmental disorder; autism spectrum disorder (ASD)
Database Correlations
OMIM correlations
MORBIDMAP 300005
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: 10508514
- 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
- 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: 17433737