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.
Rett Syndrome Research at the NINDS
Managing Rett Syndrome
For more information about Rett syndrome, visit our Rett Syndrome Learning page here: https://checkrare.com/rett-syndrome/
