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Rett syndrome :
Hello friends , in this video we will know about RETT syndrome .
RETT syndrome is more common in girls.
It is an x linked dominant inheritance
It occurs due to a gene mutation .
In Rett syndrome the head circumference of the child is normal at birth , later on the child develops microcephaly, which is acquired .
So what are the clinical features ?
It is seen in girls , the head circumference is normal at birth that is the developmentally normal for the first few months of life .
Then there’s deceleration of head growth that is the head growth doesn’t happen as per the expected rate .
So the baby develops acquired microcephaly and developmental delay ,
Along with that loss of purposeful hand movement , that means the child will be unable to use hand properly .
So what are the problems associated with RETT syndrome ?
It can be associated with
. Seizures
. Intellectual disability
. Apnea
. Breathing irregularities and so on …
Coming to the management.
So what is the drug for RETT syndrome ?
It is Trofinetide which is approved by FDA
This is all about RETT syndrome thank you !
