What is DHX30 Syndrome (NEDMIAL)
DHX30 Syndrome has a spectrum of severity, some individuals being mildly affected while other are severely affected. This syndrome is also referred to as NEDMIAL (which stands for: Neurodevelopmental Disorder characterized with severe Motor Impairment and Absent Language).
DHX30 Syndrome is a neurodevelopmental disorder characterized by 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.
How Rare is this syndrome?
As of 2023, there are 100 subjects registered with our patient group globally. The syndrome has newly been described in 2017 by Prof. Lessel. As this type of mutation is only found through extensive genetic testing, such as whole exome sequencing (WES) or whole genome sequencing (WSG). We expect that many individuals have not been diagnosed yet due to these two reasons.
Many people are misdiagnosed with Cerebral Palsy, Rett’s Syndrome or Angelman’s Syndrome.
Why did this happen?
Most mutations are the result of a spontaneous/de novo gene mutation - meaning that it is a new and random change in the coding part of the DHX30 gene. It was not caused by lifestyle, diet, or other environmental factors. It happened either in the sperm or egg of a parent, or during early development of the embryo.
The DHX30 gene is located on Chromosome 3. We all have two copies of the DHX30 gene. This syndrome is due to a Heterozygous mutation, meaning that it only occurs on one copy of the DHX30 gene. A pathologically mutation is sufficient to cause the disorder ("autosomal dominant").
DHX30.org at a Glance
We are a group of families whose children and loved ones share a genetic mutation on the DHX30 gene. First discovered in 2016, only a handful of individuals (approximately 40) 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, we are the ones educating the doctors and specialists about this mutation.
Through the power of the Internet, many of us have been able to connect, bond and share in the victories of our children.
In September, 2019, 10 families came from across the globe to meet one another and learn together about this diagnosis. This was the first such meeting of families impacted by DHX30. Our group photo is shown to the left.
WSVN News 7 Miami documented our symposium. You can view the story here and learn more about DHX30.
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