By Jo, DDX3X mutation syndrome, Australia, February 20, 2018
Little is understood about normal DDX3X function in the cell or how mutations within this gene can lead to cellular dysfunction and human disease. Some of the symptoms the individuals with DDX3X gene mutations experience are:
• Intellectual disability from mild to profound
• Facial dismorphisms
• Major communication challenges / potentially non verbal
• Mobility and coordination issues
• Orthopaedic issues like scoliosis, foot/leg alignment challenges, bone density issues
• Sleep issues
• Skin abnormalities
• Sensory processing disorder
• Digestive and feeding issues
• Altered behaviour
• Stereotypical hand movements
• Feeding and gastrointestinal issues
• Hypotonia and hypertonia
• Vision and hearing deficits
• Altered pain perception
• High risk for seizures
• Neurological issues
• Autonomic dysregulation
• Microcephaly and other brain abnormalities
• Some have heart and respiratory issues
• Risk of cancer
And more being discovered as research continues.
All of the people share these qualities
• Beautiful, strong, and brave characters
• Happy, loving, and kind
• Love of music and water
• Contagious smiles and laughter
• wonderful joy in our lives
This is a Rare disease and always will be.
However, they believe this gene could account for up to 1-3% of the cases of unexplained / undiagnosed cases of female Intellectual disabilities.
DDX3X is a newly discovered ever emerging condition which needs to be supported for research to progress. This will help undiagnosed cases and also to help researchers find a cure to help minimize the impact of this altered gene.
Please do feel free to share this to raise awareness of DDX3X.
Rare is precious and beautiful.