NeuralCipher Research overview
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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 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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