What is MECP2 Duplication Syndrome

MECP2 Duplication Syndrome is a rare genetic disorder that primarily affects the brain and nervous system. It is caused by the duplication of a specific gene called MECP2, which is located on the X chromosome. This syndrome predominantly affects males, as they have only one X chromosome. Females can also be affected, but the severity of symptoms may vary.

Individuals with MECP2 Duplication Syndrome often experience developmental delays, intellectual disability, and impaired motor skills. They may have difficulties with speech and language, as well as problems with coordination and balance. Other common features include seizures, breathing abnormalities, and autistic-like behaviors.

There is currently no cure for MECP2 Duplication Syndrome, and treatment focuses on managing the symptoms and providing supportive care. This may involve physical, occupational, and speech therapy to improve motor skills and communication abilities. Medications can be prescribed to control seizures and manage behavioral symptoms.

Research is ongoing to better understand MECP2 Duplication Syndrome and develop potential therapies. Genetic counseling is recommended for families affected by this syndrome to understand the inheritance pattern and make informed decisions.