• X-linked dominant (XD)
• Mutation in MECP-2 gene (Methyl-CpG-binding protein 2)
• Common in girls (female)
• Severe mental retardation
• Microcephaly after birth (Acquired microcephaly)
• Seizures in 75% cases
• Normal developmental upto 5 months to 1 year and loss of milestones after that.
Treatment: Symptomatic
• Anticonvulsants - for Seizure
• Behaviour therapy - for Self injury
• Physiotherapy - for Muscle deformity
NOTE: Trofinetide (FDA approved March 2023)
Trofinetide-
It’s a simple tripeptide with the sequence Gly-Pro-Glu (Glycine-Proline-Glutamate; GPE).
This tripeptide (GPE) is derived from the enzymatic cleavage of Insulin-like Growth Factor-1 (IGF-1)in the brain.
Treatment of Rett syndrome in people two years of age and older.
It is believed to:
• Reduce neuroinflammation
• Improve neuronal and synaptic function
• Enhance brain-derived neurotrophic factor (BDNF) pathways
• Improve microglial function