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About DHX30 Syndrome

What is DHX30 Syndrome (NEDMIAL)

DHX30 Syndrome, or NEDMIAL (Neurodevelopmental Disorder characterized with severe Motor Impairment and Absent Language), is an exceptionally rare neurodevelopmental disorder resulting from a DNA variant in the DHX30 gene. First identified in 2017. The syndrome presents with delayed psychomotor development, hypotonia, speech absence, and cognitive impairment.  In most cases, the genetic mutation occurs spontaneously (de novo), unrelated to lifestyle or environmental factors.

As of 2023, less than 100 individuals are known to have received a diagnosis of DHX30 Syndrome, but the actual number of individuals impacted is likely much higher due to the need for extensive genetic testing. The DHX30 gene plays a crucial role, it is thought that mutations may disrupt protein production, impacting neuronal communication and resulting in a spectrum disorder. Presently, there is no specific treatment for DHX30 syndrome, emphasizing the importance of support from speech, occupational, and physical therapies. Seizure medication can manage symptoms when relevant.  If you have a loved one with this diagnosis and are navigating this rare syndrome, you are not alone. Please join our private Facebook group that provides support and shared experiences for parents and caregivers facing the challenges of this rare syndrome.

Symptoms of DHX30 Syndrome*

Symptoms typically appear in early infancy, starting with hypotonia and delayed motor-development. It's important to note that the specific presentation can vary widely among individuals, as the severity and combination of symptoms may differ.                                                                                                             *It is imperative to note not all features listed below are present in individuals with DHX30.

As this condition is known only since 2017, we don't know much yet about its prognosis. If your child was diagnosed with a DHX30 mutation anywhere in the world, please participate in the Natural History Study led by Prof. Lessel and his team of researchers. This will help us better understand how the disorder impacts patients as they grow older. This Natural history will be crutial in our ability to move forward quickly with treatment options once they become available. 

How Rare is DHX30 Syndrome?

As of 2023, there are just under 100 individuals 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 children are misdiagnosed with:
Cerebral Palsy
Rett’s Syndrome or Angelman’s Syndrome.

Why did this happen?

            Most mutations, on the DHX30 gene, occur spontaneously. This means they are new and  random changes in the genetic coding and are not influenced by lifestyle, diet, or environmental factors. These mutations typically happen either in the sperm or egg of a parent or during the earliest development of the embryo.

If your child is affected by this mutation, it's essential to understand that you did nothing wrong. The occurrence of this mutation is not within anyone's control—it's simply a natural part of genetic variation.

The DHX30 gene is located on Chromosome 3, and we all possess two copies of it. However, in the case of this syndrome, the mutation is heterozygous, meaning it occurs only on one copy of the DHX30 gene. Even though there are two copies, a pathogenic mutation on just one of them is enough to cause the disorder. This type of inheritance pattern is known as "autosomal dominant."

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What is the function of DHX30?

The DHX30 gene is like a master instruction manual in our bodies. It gives directions for making a protein that helps in reading and translating the genetic information stored in our cells. This process is crucial for making sure our cells work properly and can do their jobs effectively.

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So, you can think of the DHX30 gene as playing a key role in keeping our cells running smoothly by making sure they understand and use their genetic information correctly. When there are mutations in the DHX30 gene, it's like having typos or mistakes in the instruction manual. These mutations can cause the protein made by the gene to not work properly or sometimes not be made at all. As a result, the process of reading and translating genetic information in our cells can get disrupted. This can lead to problems in how our cells function, which may affect your child's health in various ways. Depending on the specific mutation and how it affects the DHX30 gene, it could result in a range of issues from mild to severe, impacting different aspects of cellular function.

It's important to remember that having a child diagnosed with a DHX30 mutation can feel overwhelming, but it's not anyone's fault. Mutations happen naturally and are nobody's fault. While it might bring challenges, it's also important to know that there's ongoing research and support available. Doctors and scientists are working hard to understand these mutations better and find ways to support individuals and families affected by them.  It's a journey, but you're not alone.

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Are there treatments for DHX30 Syndrome?

While there isn't a cure for DHX30 syndrome, there are various therapeutic approaches aimed at supporting individuals and maximizing their potential. These therapies encompass a holistic approach that addresses the diverse needs of affected individuals, focusing on promoting development, developing limited communication, improving motor skills, and providing support for overall well-being.

Early intervention services play a crucial role in supporting children with DHX30 Syndrome from a young age. These programs provide individualized support and therapies tailored to the specific needs of each child. Early intervention may include developmental therapies, sensory integration techniques, and educational support aimed at promoting growth and skill development.

Speech and Language Therapy is essential for individuals with DHX30 Syndrome who may experience communication challenges and barriers, such as absent or minimal speech and difficulty with expressive and receptive language skills. Speech therapists work with individuals to improve communication abilities, enhance vocabulary, and develop effective communication strategies tailored to their unique needs including the use of adaptive equipment.

Occupational Therapy focuses on developing and improving the fine motor skills and sensory processing abilities of individuals with DHX30 Syndrome. Occupational therapists utilize therapeutic activities, exercises, and adaptive techniques to enhance independence and promote participation in daily activities.

Physio/Physical therapy plays a vital role in improving gross motor skills, strength, coordination, and mobility in individuals with DHX30 syndrome. Physical therapists design customized exercise programs and interventions to address specific motor challenges, improve balance and posture, and enhance overall physical function.

Psychosocial support are essential components of comprehensive care for individuals with DHX30 syndrome and their families. Counselors provide strategies and support to support emotions, understand anxieties and enhance social skills. Additionally, counseling and support services offer emotional support, coping strategies, and resources for families navigating the complexities of caring for a loved one with DHX30 Syndrome.

Other therapies to discover: Hippo/Equine-Assisted Therapy, Massage and Sensory Therapy,

NISE-Stim/spinal electrical stimulation, Conductive Education, Proprioception Training,

Chiropractic care, Music and Movement Therapy, Dry Needling, Aquatic Therapy,

Nutritional Intervention and Intensive Pediatric Physical Therapy.  There are

certainly many more therapeutic options available. Always discuss all therapy 

approaches with your child's trusted medical team. 


            In conclusion, therapeutic interventions play a critical role in optimizing the full potential of individuals with 

 DHX30 syndrome. By providing comprehensive support, individualized therapies, and a nurturing environment, we

can empower individuals with DHX30 Syndrome to thrive. Together, we can support and advocate for individuals with

  DHX30 syndrome, ensuring they have access to the resources and therapies needed to reach their maximum potential.

Currently, there are no specific medical treatments available for DHX30 syndrome. However, our collective dedication along with our researchers to finding solutions remains steadfast, and we're actively working to advance research in this field. Your support is crucial in this endeavor, and we deeply appreciate your involvement.

Given the rarity of DHX30 syndrome, medical professionals may not have extensive knowledge about the disorder. Nevertheless, you're not alone on this journey. Join our private Facebook support group to connect with other parents and caregivers who share similar experiences. Here, you'll find a supportive community ready to offer advice, share insights, and provide comfort during challenging times. Families can play a vital role in moving research forward. By participating in Natural History Studies and being active community members on our Facebook page, you contribute directly to the advancement of knowledge about DHX30 syndrome. These efforts not only enhance understanding but also pave the way for future treatment developments and support initiatives. Your participation in our support group and involvement in research activities are invaluable contributions to the DHX30 syndrome community. Together, we can make meaningful progress and improve the lives of those affected by this condition.

Feel free to join our Facebook group today and become an active participant in our supportive community. We look forward to welcoming you and working together towards a brighter future for DHX30 syndrome.

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