Rett Syndrome Symptoms

The recent studies demonstrating that neurological deficits resulting from loss of MeCP2 can be reversed upon restoration of gene function are quite exciting because they show that neurons that have suffered the consequences of loss of MeCP2 function are poised to regain functionality once MeCP2 is provided gradually and in the correct spatial distribution. This provides hope for restoring neuronal function in patients with RTT.New Rett syndrome gene found


A research collaboration between Australia and Israel has identified a genetic variation that influences the severity of symptoms in Rett syndrome.
The infant with Rett syndrome often avoids detection until 6-18 months due to a relatively normal appearance and some developmental progress. However closer scrutiny reveals disturbance of the normal spontaneous limb and body movements that are thought to be regulated in the brainstem. The brief period of developmental progress is followed by stagnation and regression of previously acquired skills. During regression some features are similar to those of autism. It is, hence, easy to mistakenly diagnose Rett syndrome for autism.Original release provided by Research Australia, via EurekAlert!

Symptoms of Rett syndrome that are similar to autism(from wiki):

* screaming fits
* panic attack
* inconsolable crying
* avoidance of eye contact
* lack of social/emotional reciprocity
* general lack of interest
* markedly impaired use of nonverbal behaviors to regulate social interaction
* loss of speech
* Balance and coordination problems, including losing the ability to walk in many cases

Symptoms of Rett syndrome that are also present in cerebral palsy (regression of the type seen in Rett syndrome would be unusual in cerebral palsy; this confusion should rarely be made):

* possible short stature, and/or might be unusually proportioned because of difficulty walking or malnutrition due to difficulty swallowing.
* hypotonia
* delayed or absent ability to walk
* gait/movement difficulties
* ataxia
* microcephaly in some - abnormally small head, poor head growth
* some forms of spasticity
* chorea - spasmodic movements of hand or facial muscles
* dystonia
* bruxism - grinding of teeth

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