What is DHX30
DHX30 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.
Common symptoms;
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global developmental delays
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intellectual disability
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minimal or absent speech
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muscular hypotonia
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ataxic gait or inability to walk
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feeding difficulties
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autistic features
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sleep disturbances.
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strabismus, or crossed eyes
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joint hypermobility
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. As of January, 2021,, all of the mutations in the DHX30 gene found in humans have arisen spontaneously, meaning they were not inherited from a parent. The chance of recurrence for future pregnancies of parents is considered low (<1%).
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.
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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.
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WSVN News 7 Miami documented our symposium. You can view the story here and learn more about DHX30.
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2019 Symposium
“What you do makes a difference, and you have to decide what kind of difference you want to make.”