Is there a cure for duplication syndrome?

Early developmental interventions may be recommended to help affected children reach their potential. This may include physical therapy , speech therapy and/or occupational therapy. Medications may be prescribed to treat seizures or spasticity . Recurrent infections must be treated with appropriate antibiotics .

What does MECP2 mean?

MECP2 (methyl CpG binding protein 2) is a gene that encodes the protein MECP2. MECP2 appears to be essential for the normal function of nerve cells. The protein seems to be particularly important for mature nerve cells, where it is present in high levels.

What is the cause of MECP2 Duplication Syndrome?

MECP2 Duplication Syndrome is a rare neurogenetic disorder. It is usually found in males, although cases have been found in females. The syndrome is caused by a duplication of the MECP2 gene on the X chromosome and is usually inherited.

Is the MECP2 Duplication Foundation a live event?

The MECP2 Duplication Foundation has re-designed the 2021 Gala into an exciting and incredible, “live” virtual event, allowing supporters and viewers from all over the world to participate. We are here to help you. Access information and resources so you can learn more about MECP2 Duplication Syndrome and navigate your child’s care.

How is the X chromosome affected by MeCP2?

Because this process is usually random, the X chromosome inherited from the mother is active in some cells, and the X chromosome inherited from the father is active in other cells. However, when a female has an X chromosome with a duplicated copy of the MECP2 gene, the abnormal chromosome is often the one inactivated in many, or all, cells.

What are the signs and symptoms of MeCP2?

Signs and symptoms include low muscle tone (hypotonia) in infancy, developmental delay, severe intellectual disability, and progressive spasticity. Other signs and symptoms may include recurrent respiratory infections and seizures.