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Card
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Title
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Rett Syndrome
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ImagePath
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System
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MECP2 mutation
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Overview
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Neurodevelopmental disorder almost exclusively in girls due to MECP2 mutation.
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Pathophysiology
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De novo MECP2 loss‑of‑function on X chromosome in paternal germline → defective methyl‑CpG‑binding protein 2 → dysregulated gene silencing.
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Presentation
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Normal early development followed by regression at 6‑18 mo: loss of speech and purposeful hand use, stereotypic hand‑wringing, seizures, ataxia, intellectual disability.
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Diagnosis
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MECP2 sequencing; exclusion of metabolic errors.
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Management
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Supportive: seizure control, physiotherapy, communication aids.
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Epidemiology
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≈ 1 : 10 000 female births; lethal in hemizygous males.
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Tags
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