ArticleMovement disorders clinical practice2025
Parkinsonism and Dystonia Are Prevalent and Concomitant Movement Disorders in a Cohort of Patients with Rett Syndrome.
Article in Movement disorders clinical practice, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Beyond Rett syndrome: a case series expanding the neurological spectrum associated with pathogenic MECP2 variants.Journal of neurology · 2026Article
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Authors and funding
6 authors.
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Abstract
backgroundRett syndrome (RTT) is a rare neurodevelopmental disorder linked with MECP2 variants, frequently presenting with movement disorders (MDs).
objectivesThis study examined the frequency, types, and associations of MDs with RTT characteristics and severity.
methodsTwenty female patients (median age 11 years, range 3-40) with MECP2 variants were recruited and assessed using disease severity and MD scales, alongside videotaped neurological examinations.
resultsPrevalent MD was hypokinetic in 55% of the patients and hyperkinetic in 45%. Parkinsonism and dystonia were the most common, coexisting in 75% of patients. Higher Movement Disorders-Childhood Rating Scale (MD-CRS) scores correlated with greater severity on the Rett Assessment Rating Scale (RARS) (P = 0.04). Dystonia was significantly associated with respiratory (P < 0.05) and gastrointestinal problems (P = 0.02).
conclusionsThe study identified parkinsonism and dystonia as the prevalent MDs in RTT, emphasizing the association between dystonia and gastrointestinal/respiratory problems and reflecting the complex nature of MDs in RTT.
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