MECP2 Duplication Syndrome

What is MECP2 duplication syndrome? 

MECP2 duplication syndrome (MDS) is a neurological and developmental disorder. This is called an MECP2-related disorder, which means the disorder is caused by a change in the MECP2 gene.  

Children with MDS have delayed language development and problems using their  hands and walking. These symptoms can be seen with many different neurological and developmental disorders. Having a specific diagnosis of MDS (or other genetic disorder) may help you understand what to expect. 

What causes MECP2 duplication syndrome? 

MDS involves a change in a child's DNA, which results in an extra copy of a gene called the MECP2 gene. This gene occurs on the X chromosome. Even though this is a genetic disorder, it may happen randomly to a child and not inherited from parents. In other words, a new rearrangement of the DNA happened around the time the egg and sperm came together. This isn’t caused by something the parents did or didn't do. Sometimes the mother carries the extra copy of the MECP2 gene but doesn’t have symptoms of MDS.  

Who gets MECP2 duplication syndrome? 

MDS is so rare that we don’t know yet how often it happens. This condition affects boys and girls but is more common in males. 

What are the signs and symptoms of MECP2 duplication syndrome? 

The age when symptoms of MDS syndrome begin and the severity of symptoms can vary. Most children with MDS syndrome have delayed development.

Your child's doctor will look for the following symptoms to help make a diagnosis: 

• Lack of speech 
• Balance and coordination problems (including the inability to walk in many cases) 
• Anxiety and social-behavioral problems 
• Intellectual and developmental disabilities 
• Epilepsy that is hard to treat, known as refractory epilepsy 
• Frequent infections

What tests are used to diagnose MECP2 duplication syndrome? 

Since the signs and symptoms of MDS are common to many disorders, we use a blood or saliva test to check for a genetic change in the MECP2 gene and confirm the diagnosis.

How is MECP2 duplication syndrome treated? 

Because of its genetic nature, there isn’t a cure for MDS. Our experts can help explain what this means for treatment. 

Sometimes we use medication to address  seizures. Lung specialists (pulmonologists)can help prevent frequent lung infections. Some children may also struggle with feeding problems and require supplemental food from a  feeding tube.

Physical, occupational and speech therapy can also help with motor, communication, sleep and behavioral difficulties. These supportive treatments help most children adapt to the symptoms of MDS and live a full life.

Why choose us for the treatment of MECP2 duplication syndrome?

At Children's Hospital Colorado, our providers and therapists work together to create a treatment plan that both addresses your child’s immediate needs and supports their long-term quality of life.

Since we see people of all ages with MDS in our Rett Clinic, we're well-versed in the many different symptoms of MDS and we understand the nuances of this condition.

We strive to develop and provide the most up-to-date care based on research and care guidelines. We participate in clinical trials available for MDS, which help bring the latest care advancements to your child. We partner with government, foundation and industry partners to participate in research studies to find new and better ways to treat MDS. Participation in research is always voluntary.

Contact us

To make an appointment at the Rett Clinic, families and providers can contact the Rett Clinic at 720-777-4798 or email RettClinic@childrenscolorado.org.

Helpful Resources

• Mecp2d.org provides information about MECP2 duplication syndrome and research that is being done to find a cure.
• The 401 Project provides information about MECP2 duplication syndrome and research that is being done to find a cure.
• The National Institutes of Health, Genetic and Rare Diseases Information Center provides information about MECP2 duplication syndrome, research and support resources.
• Rett Syndrome Research Trust funds Rett syndrome research and provides resources to support families affected by Rett syndrome and MECP2 duplication syndrome.
• Rocky Mountain Rett Association provides regional support for kids with Rett Syndrome, MDS, CDD and FOXG1 syndrome and their families including education and fundraising events.