Laura Mamounas PhD, Program Director at the National Institute of Neurological Disorder and Stroke (NINDS) at the NIH in Bethesda, discusses Rett syndrome research at her organization.

Rett syndrome is a multisystem disorder that primarily affects girls. Only in rare cases are boys affected (who may experience more severe symptoms). Multiple loss-of-function mutations to the MECP2 gene are the cause of Rett syndrome.

It is a progressive, neurodevelopmental disorder, but infants with Rett syndrome generally develop normally for about 6 to 18 months after birth. After this period, these children experience development regression, and motor control anomalies (e.g., ataxia, uncontrolled hand movements) begin to emerge. With a heterogenous presentation, recognition of Rett syndrome can be challenging.

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