Rett syndrome

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

Dystonia

An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.


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PMID (PMCID)
21835657
 OTHER Child
Movement disorder emergencies in childhood.
Kirkham FJ, Haywood P, Kashyape P, Borbone J, Lording A, Pryde K, Cox M, Keslake J, Smith M, Cuthbertson L, Murugan V, Mackie S, Thomas NH, Whitney A, Forrest KM, Parker A, Forsyth R, Kipps CM.
Eur J Paediatr Neurol. 2011;15(5):390-404.
Other important non-inflammatory movement disorders, typically seen in symptomatic children with underlying aetiologies such as trauma, severe cerebral palsy, epileptic encephalopathy, Down syndrome and Rett syndrome, include dystonic posturing secondary to gastro-oesophageal reflux (Sandifer syndrome) and Paroxysmal Autonomic Instability with Dystonia(PAID) or autonomic 'storming'.
17216643
 FEMALE Middle Aged
Rett syndrome: an overlooked diagnosis in women with stereotypic hand movements, psychomotor retardation, Parkinsonism, and dystonia?
Roze E, Cochen V, Sangla S, Bienvenu T, Roubergue A, Leu-Semenescu S, Vidaihet M.
Mov Disord. 2007;22(3):387-9.
This report emphasizes the diagnostic value of movement disorders, including hand stereotypies, Parkinsonism, and dystonia, in adults with Rett syndrome.