What is DHX30
DHX30 is a neurodevelopmental disorder with severe motor impairment and absent language. Also known as NEDMIAL, it is caused by de novo missense mutations in the DHX30 gene.
global developmental delays
minimal or absent speech
ataxic gait or inability to walk
strabismus, or crossed eyes
It is imperative to note not all features listed above are present in individuals with DHX30. Many people are misdiagnosed with Cerebral Palsy, Rett’s Syndrome or Angelman’s Syndrome. Thus far, all of the mutations in the DHX30 gene found in humans have arisen spontaneously. In other words, they were not inherited from a parent. The chance of recurrence for future pregnancies of parents is considered low (<1%).
DHX30 Fund at a Glance
We are a group of families whose children and loved ones share a genetic mutation on the DHX30 gene. Recently discovered in 2016, this condition is so new and so rare that its current name goes by “DHX30." Only a handful of individuals (approximately 30) around the globe have been diagnosed.
Unfortunately, the rarity of this condition means doctors currently have few answers as to what the future holds for those with DHX30 mutations.
From our experience, when we go to the doctor, we wait as the physicians and specialists Google the disorder, then proceed to read the few articles we have all read and studied many times over in our search for answers.
Through the power of the Internet, many of us have been able to connect, bond and share in the victories of our children.
“What you do makes a difference, and you have to decide what kind of difference you want to make.”