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Necpál, J.* ; Stretavská, P.* ; Indelicato, E.* ; Růžička, E.* ; Škorvánek, M.* ; Jeleňová, B.* ; Boesch, S.* ; Jech, R.* ; Zech, M.

Atypical atypical MECP2-related rett syndrome presenting with movement disorders- predominating phenotype.

Mov. Disord. Clin. Pract., DOI: 10.1002/mdc3.70697 (2026)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
BACKGROUND: Rett syndrome (RTT) is an X-linked neurodevelopmental disorder characterized by a typical natural history, including early stagnation, rapid regression, a pseudostationary phase, and late motor deterioration. Seizures, autistic features, breathing abnormalities, stereotypies, and various movement disorders are often present. Currently, the diagnosis of atypical RTT requires a period of regression and fulfillment of at least two main criteria, and at least five of 11 supportive criteria. CASES: We describe five patients (aged 20-61 years), unexpectedly diagnosed with RTT, exhibiting a movement-disorder-predominant phenotype, most commonly dystonia. These patients lacked the typical natural course of RTT and, in most cases, showed preserved social functioning and an essentially normal life. As none of the patients fulfilled the diagnostic criteria for either typical or atypical RTT, we have labeled them as "atypical atypical" RTT. CONCLUSIONS: We recommend a revision of the current diagnostic criteria for RTT to include also more atypical presentations.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Mecp2 ; Atypical Rett Syndrome ; Case Series ; Diagnostic Criteria ; Movement Disorder‐predominant; Dystonia
ISSN (print) / ISBN 2330-1619
e-ISSN 2330-1619
Journal Movement disorders clinical practice
Publisher Wiley
Publishing Place New York, NY
Reviewing status Peer reviewed
Institute(s) Institute of Neurogenomics (ING)
Grants Charles University: Cooperatio Program in Neuroscience
Technical University of Munich - Institute for Advanced Study
Free State of Bavaria under the Excellence Strategy of the Federal Government and the Lander
Federal Ministry of Education and Research (BMBF)
"Schlüsselprojekt" grant from the Else Kröner-Fresenius-Stiftung (2022_EKSE.185), EJP RD (EJP RD Joint Transnational Call 2022) and the German Federal Ministry of Education and Research (BMBF, Bonn, Germany) PreDYT (PREdictive biomarkers in DYsTonia, 01GM