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Rett syndrome: Genetics, clinical features, and diagnosis

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Rett syndrome (RTT) is a severe neurodevelopmental disorder that occurs almost exclusively in females. It was described in 1966 by Andreas Rett, an Austrian pediatrician and neurologist [1]. After a brief period of initially normal development, affected patients experience loss of speech and purposeful hand use, stereotypic hand movements, and gait abnormalities. Additional features include deceleration of head growth, seizures, autistic features, and breathing abnormalities [2]. Most cases result from pathogenic variants in the MECP2 gene.

Rett syndrome: Treatment and prognosis

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Rett syndrome (RTT) is a neurodevelopmental disorder that occurs almost exclusively in females. After a brief period of initially normal development, affected patients experience loss of speech and purposeful hand use, stereotypic hand movements, and gait abnormalities. Additional manifestations include deceleration of head growth, seizures, autistic features, and breathing abnormalities. RTT is not a degenerative disorder. Rather, it is a progressive disorder with multisystem symptom evolution over the lifespan.