5 Facts you should know about

Rett syndrome

Affected girls appear to have normal psychomotor development during the first 6 to 18 months of life, followed by a developmental "plateau," and then rapid regression in language and motor skills

Additional signs and symptoms may include repetitive stereotypic hand movements, fits of screaming and inconsolable crying, autistic features, panic-like attacks, and bruxism

Rett syndrome is due to a genetic mutation in the MECP2 gene on the X chromosome

Males with pathogenic MECP2 mutations usually die within the first 2 years from severe encephalopathy

It almost always occurs as a new mutation, with less than one percent of cases being inherited from a person's parents

See our full disease profile

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