Parkinsonism and Dystonia Are Prevalent and Concomitant Movement Disorders in a Cohort of Patients with Rett Syndrome
Year: 2025
Type: article
Study design: Observational Study
Abstract: BACKGROUND: Rett syndrome (RTT) is a rare neurodevelopmental disorder linked with MECP2 variants, frequently presenting with movement disorders (MDs). OBJECTIVES: This study examined the frequency, types, and associations of MDs with RTT characteristics and severity. METHODS: Twenty 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. RESULTS: Prevalent 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). CONCLUSIONS: The 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.
DOI: 10.1002/mdc3.70158
Institutions: University of Genoa, Istituto Giannina Gaslini
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $3,400
OpenAlex ID: W4410924896