About Mecp2 Duplication

Very little is known about the disorder at this point as the MeCP2 gene was only recently discovered and isolated in genetic testing in 2005. Currently there are only a few boys in Australia diagnosed with MecP2 Duplication and a random few throughout the world. It is likely though that there are many more boys with MecP2 Duplication who have not yet been tested who have the duplication.

Characteristics of MECP2 duplication in affected boys:

*Hypotonia

*As a result of hypotonia, motor development including sitting, crawling, and walking is severely delayed or impaired

*Mental retardation (in 100%)

*Recurrent respiratory infections (in 80%)

*Epilepsy (in 50%)

*Constipation and/or reflux

*Limited or absent speech

*Autistic behaviors

*Ataxia

*Progressive spasticity (usually noticed in the legs more than the arms)

*Stereotyped movements of hands

*Teeth grinding

*Developmental regression occurs in some boys

*Intestinal pseudo-obstruction

Ongoing research into the Mecp2 gene and its affects on those with the duplication is being conducted in Westmead Hospital Sydney and also in labs in Western Australia and overseas.

All of our Boys are the sunshines of our lives and although none of us would pass up an opportunity to make things easier for our Son's, our loving little boys are precious and special to us just the way they are!