Indication

Rett syndrome

Rett syndrome is a rare, severe neurodevelopmental disorder of the central nervous system that occurs almost exclusively in females and is most often caused by de novo loss-of-function mutations in the X-linked methyl-CpG-binding protein 2 (*MECP2*) gene. Read more about Rett syndrome

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About Rett syndrome.

Rett syndrome is a rare, severe neurodevelopmental disorder of the central nervous system that occurs almost exclusively in females and is most often caused by de novo loss-of-function mutations in the X-linked methyl-CpG-binding protein 2 (*MECP2*) gene.

Following an initial period of apparently normal development during the first 6 to 18 months of life, affected individuals experience early developmental regression marked by the loss of acquired purposeful hand skills and expressive spoken language.

Defining clinical features subsequently include the emergence of stereotypic hand movements, gait ataxia, deceleration of head growth, autonomic breathing irregularities, seizures, and profound cognitive and motor impairment.

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