MECP2 Duplication Syndrome

Overview

MECP2 Duplication Syndrome is a condition that occurs almost exclusively in males and is characterized by moderate to severe intellectual disability.

Symptoms

Most people with this condition also have weak muscle tone in infancy, feeding difficulties, poor or absent speech, seizures that may not improve with treatment, or muscle stiffness (spasticity). Individuals with MECP2 duplication syndrome have delayed development of motor skills such as sitting and walking. 

Approximately one third of people with this condition cannot walk without assistance. Many individuals with MECP2 duplication syndrome have recurrent respiratory tract infections. These respiratory infections are a major cause of death in affected individuals, with almost half succumbing by age 25.

Testing/Diagnosis

If above symptoms are present, blood work is collected and diagnosis made if duplication is present on the MECP2 gene.

Treatments

Treatment of this condition is symptomatic and supportive. Affected individuals require routine management of hypotonia, feeding difficulties, infections, developmental and speech delays, spasticity, and seizures. They may also benefit from physical therapy to maintain range of motion and reduce the likelihood of contractures as they age. The progression of the disease can be assessed by routine monitoring for progressive spasticity and loss of language skills.

Resources

mecp2duplication.com

en.wikipedia.org/wiki/MECP2

www.mecp2duplication.com/pb/wp_ba3c2af3/​wp_ba3c2af3.html

www.mecp2foundation.org

www.ncbi.nlm.nih.gov/pmc/articles/​PMC2861792

John's Story

John J. Holzapfel Jr. was born on November 15,1988 and was a healthy baby as far as we knew. He was sick at the age of 2 mos., and at 4 mos., he had not reached any milestones at all.

John took his first steps alone, when he was 7 years old! For the first seven years of his life, he was diagnosed (wrongly) with several different disorders. Autism, Cerebral Palsy, developmentally delayed, and anything else they could use since he was a mystery to all. John was plagued with seizures, several life threatening infections, and many hospital stays. He has a g-tube, in place for last 22 years, an ileostomy, several bouts with pneumonia, and sinus infections as well as Sepsis too many times.

He had several different genetics doctors submit testing for diagnoses they THOUGHT he might have. It wasn't until 2005/early 2006 that a doctor at Children's Hospital of Pittsburgh thought he met criteria for MECP2 duplication syndrome. The blood work was collected, sent to Baylor Medical Center and came back positive for the syndrome. Then I was tested, and found that I was indeed a carrier. Sad day.

Throughout John's 23 years here on earth, he has taught us so many things. Patience and unconditional love are high on our list. I don't know what the future holds for him. The one thing I do know is this: I will not stop fighting and looking for ways to find a cure for this horrific syndrome. I want to raise awareness of this new syndrome so that the world knows and we can help the 120 or so males that have been diagnosed this far.

Contributed by MOM Helen (and dad Mike) Murray