Rett syndrome

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.

Dyskinesia

A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.


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PMID (PMCID)
25714420
 FEMALE Child
A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.
Romaniello R, Saettini F, Panzeri E, Arrigoni F, Bassi MT, Borgatti R.
Neuroreport. 2015;26(5):254-7.
On reviewing the clinical features of the reported patients with the same mutation in the STXBP1 gene, it has been observed that poor eye contact, tremour, dyskinesia, head/hand stereotypies and both cognitive and motor progressive deterioration are common symptoms, although never considered as indicative of a Rett syndrome phenotype.