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Home > Drugs > Treatments > Rett Syndrome

Medications for Rett Syndrome

Rett syndrome is a rare, debilitating neurological disorder that primarily affects females. It is caused by a genetic mutation on the MECP2 gene.

Rett syndrome causes problems in brain functions that are responsible for cognitive, sensory, emotional, motor and autonomic function. Symptoms include loss of fine motor skills, impaired gross motor skills, loss of communication skills (including eye contact), and inability to independently conduct activities of daily living.

Symptoms also include seizures, disorganized breathing patterns, scoliosis, and sleep disturbances.

Rett syndrome is commonly divided into four stages:

Stage 1: Early onset (6 and 18 months of age). Babies in this stage may show less eye contact and can have delays in sitting or crawling.
Stage 2: Rapid deterioration (1 and 4 years of age). Children lose the ability to perform skills they previously had. Symptoms of Rett syndrome occur, such as slowed head growth, abnormal hand movements, hyperventilating, problems with movement and coordination, and a loss of social interaction and communication.
Stage 3: Plateau (2 and 10 years of age). Problems with movement continue. Seizures may begin in this stage.
Stage 4: Late motor deterioration. (After 10 years of age). Symptoms include reduced mobility, muscle weakness, joint contractures and scoliosis.

Daybue (trofinetide) is the first FDA approved treatment for Rett syndrome.

Drugs used to treat Rett Syndrome

Name Drug Class Updated
Trofinetide Miscellaneous central nervous system agents 17-Aug-2023
Daybue Miscellaneous central nervous system agents 13-Jul-2023
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