What is ReNU syndrome?
ReNU syndrome is a very rare genetic disorder caused by changes in the RNU4-2 gene, which is important for RNA splicing. Disorders in this gene lead to severe impairments in brain development.
Typical symptoms include pronounced hypotonia, significant developmental delays, little or no speech, delayed or absent walking and growth disorders. Epileptic seizures, characteristic facial features and brain changes such as hydrocephalus or reduced development of the corpus callosum are also common.
Diagnosis is difficult as changes in the RNU4-2 gene are often not detected in conventional genetic analyses and special tests are required.
Aids that are frequently used for ReNU syndrome:
Aids and support for everyday life
As ReNU syndrome severely restricts mobility and communication, customized aids are the key to support and relief:
- Positioning & trunk support: due to the severe hypotonia, individually adapted therapy chairs or seat shell chassis are essential. They provide the child with the necessary stability to hold their head up and participate in everyday life.
- Mobility aids: Depending on motor ability, specialized rehab buggies or wheelchairs provide support. These often need to be configured in such a way that they can accommodate medical accessories (e.g. for the hydrocephalus shunt or monitoring equipment).
- Augmentative and Alternative Communication (AAC): As speech is often lacking, the early introduction of communication aids (e.g. buttons, symbol cards or simple talkers) is important to give the child a means of expression.
- Safety with epilepsy:Epilepsy sensor mats or special safety beds with padding help to reduce the risk of injury during nocturnal seizures.
- Baby walkers: For children trying out their first steps, dynamic walking trainers with strong weight relief and pelvic guidance can provide valuable support.
Learn more
You can find more helpful information about ReNU syndrome here:
www.orpha.net