What is MECP2 Duplication syndrome

 

Mecp2 duplication was first discovered in 2005. It is rare chromosome abnormality on the long arm of the x chromosome at xq28. Although there are a couple of reported cases in girls it occurs almost exclusively in boys. This is because girls have two x chromosomes and carry the abnormality on only one so the other unaffected x chromosome usually kicks in and takes over. In most cases they are unaffected however as males only have one x chromosome they are fully affected by the abnormality.

 

 

Children with MECP2 duplication are all affected slightly differently however there are common features.

• Hypotonia (floppiness or low muscle tone).

• Absent or little speech.

• Severe learning difficulty.

• Progressive neurological conditions such a seizures and increased muscle spasticity.

• Recurrent chest infections and pneumonia which are a major cause of death with almost half affected succumbing before age 25

• Severe constipation and reflux.

• Autistic like behaviors such as hand flapping and rocking.

• Ataxia (balance and control issues)

• Teeth grinding

 

Children with MECP2 Duplication syndrome sometimes have facial features in common such as large ears, a flat nasal bridge, facial hypotonia may result in an inverted v shaped upper lip, microcephaly (unsually small head) however these features are so small they often look like normal children and may look just like siblings.

 

 

 

 

 

Raising awareness of MECP2 Duplication syndrome

 

 

 

 

For more information about MECP2 Duplication syndrome and the charity we support got to

 

www.mecp2.co.uk

The Alfie Lund Fund raises money for specialist equipment for Alfie to help meet his therapy needs and give him a more comfortable life. We work hard to raise awareness of MECP2 Duplication syndrome and have given back to local community courses through our fundraising.

Working together to raise awareness of MECP2 Duplication UK.