It all starts with a gene.

From the second their first cells divide, people with MEF2C-related disorders are set on a different path.

Tiny things can make a big difference. A mutation or deletion of the MEF2C gene, on the fifth chromosome—at location 5q.14.3 to be exact—causes this extremely rare genetic disorder. Most cases are de novo, meaning that this mutation arises spontaneously in an individual's DNA, often occurring during the initial formation of the embryo. There is currently no known cure.

But we want to change all that.

A genetic change on the 5th chromosome causes MEF2C-related disorders, including MEF2C Haploinsufficiency Syndrome.

MEF2C is crucial for brain development.

MEF2C (myocyte enhancer factor 2C) is a gene that plays a crucial role in brain development, particularly in areas associated with cognitive function, motor skills, and speech.

For folks with MEF2C-related disorders, this gene isn’t working as intended.

What are the symptoms of a MEF2C related disorder?

People with these changes to the MEF2C gene generally have:

  • Intellectual disability and developmental delays

  • Motor skill difficulties and low muscle tone (hypotonia)

  • Limited or absent speech development

  • Epilepsy or other seizure disorders

  • Autistic-like behaviors, such as difficulty with social interactions and repetitive movements

These symptoms can make even simple tasks in life a challenge. Everything from feeding themselves to learning to communicate can feel out of reach, and people with these disorders require a significant amount of support from family, loved ones and professionals to make progress.

The genetic link with autism.

MEF2C-related disorders have an overlap with Autism Spectrum Disorder (ASD). ASD is a clinical diagnosis, meaning that it relies on observing an individual's communication, social interaction, and behavior patterns, as described in the DSM-5 criteria, with no specific medical test or scan currently available to diagnose ASD.

This is actually good news on a lot of fronts for parents and caretakers! With an ASD diagnosis, your loved one may qualify for a broad range of funded supports and interventions through insurance, depending on where you live.

So in addition to getting your MEF2C genetic diagnosis (an error on 5q.14.3), we encourage you to get your loved one tested for ASD.