Rett syndrome

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

Stereotypy

A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral.


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PMID (PMCID)
30829465
 FEMALE
Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female.
Brown M, Ashcraft P, Arning E, Bottiglieri T, McClintock W, Giancola F, Lieberman D, Hauser NS, Miller R, Roullet JB, Pearl P, Gibson KM.
Mol Genet Genomic Med. 2019;7(5):e629.
We present a patient with Rett syndrome (RTT; MECP2) and autosomal-recessive succinic semialdehyde dehydrogenase deficiency (SSADHD; ALDH5A1 (aldehyde dehydrogenase 5a1=SSADH), in whom the current phenotype exhibits features of SSADHD (hypotonia, global developmental delay) and RTT (hand stereotypies, gait anomalies).
27296050
(4906695)
 FEMALE
Clapping-surpressed focal spikes in EEG may be unique for the patients with rett syndrome : a case report.
Lv Y, Liu C, Shi M, Cui L.
BMC Neurol. 2016;16:91.
We reported a Chinese case of Rett syndrome, exhibiting continuous centrotemporal spikes in EEG with paroxysmal suppression by hand stereotypies (hand clapping).
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.
20734096
 MIXED_SAMPLE
A FOXG1 mutation in a boy with congenital variant of Rett syndrome.
Le Guen T, Bahi-Buisson N, Nectoux J, Boddaert N, Fichou Y, Diebold B, Desguerre I, Raqbi F, Daire VC, Chelly J, Bienvenu T.
Neurogenetics. 2011;12(1):1-8.
This new case confirms the prediction that congenital variant of Rett syndrome should be found also in males, with the characteristic hallmarks consisting of postnatal microcephaly, dyskinetic movement disorder with Rett-like features, i.e., hand stereotypies, and frontal gyral simplification with myelination delay.
21934280
 FEMALE Child
De novo interstitial triplication of MECP2 in a girl with neurodevelopmental disorder and random X chromosome inactivation.
Mayo S, Monfort S, Rosello M, Orellana C, Oltra S, Armstrong J, Catala V, Martinez F.
Cytogenet Genome Res. 2011;135(2):93-101.
Loss-of-function mutations of the MECP2 gene are the cause of most cases of Rett syndrome in females, a progressive neurodevelopmental disorder characterized by severe mental retardation, global regression, hand stereotypies, and microcephaly.
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.
8461620
 FEMALE Adult
An analogue assessment of hand stereotypies in two cases of Rett syndrome.
Wehmeyer M, Bourland G, Ingram D.
J Intellect Disabil Res. 1993;37 ( Pt 1):95-102.
An analogue assessment of hand stereotypies in two cases of Rett syndrome.
3087179
 FEMALE
"Forme fruste" of Rett syndrome--a case report.
Hagberg B, Rasmussen P.
Am J Med Genet Suppl. 1986;1:175-81.
However, she never stopped using her hands purposefully, nor did she develop the hand stereotypies characteristic of Rett syndrome.
4061769
 FEMALE
Neuropathological studies in a child showing some features of the Rett syndrome.
Harding BN, Tudway AJ, Wilson J.
Brain Dev. 1985;7(3):342-4.
Clinical and neuropathological data are presented from a girl who died at 14 yrs and who in life displayed some of the characteristics of the Rett syndrome--social withdrawal, progressive loss of locomotor as well as social skills, microcephaly, and a very restricted stereotypy of manipulation.