GNB-1 Genetic Disorder

http://www.gnb1.org/diagnosis1

What is GNB-1 Syndrome?

This is a rare, recently discovered disorder.  There is no cure or targeted treatment for GNB1-related disorder at this time.

GNB1 Syndrome is a genetic mutation to the GNB1 gene that affects one small, but important part of this communication system.

The part of the communication system effected, know as G proteins, changes how cells respond to certain environmental or chemical stimuli. For those affected with GNB1 Syndrome this means a range of developmental and medical challenges. Depending on how, when and where in the body these pathways are effected, an individual might have the profile of a child on the autism spectrum disorder or in other cases be classified with a severe movement disorder.
To read more in depth about the G protein and its scientific details:
What does it mean for patients who have this?
There are only 64 patients (and counting) with this diagnosis. One big thing in common is that the patients have infectious smiles which is consistent with our little Hattie.
There are different identified variants on the GNB-1 gene itself that cause many different manifestations – Broad categories include:
  • Global developmental delay
  • Hypotonia (low muscle tone)
  • Seizures
  • Ophthalmological manifestations
  • Growth delay
Most of the patients with this genetic syndrome have seizure activity – we have been lucky that Hattie has not developed this but will continue to monitor this.
Most of the patients do not use much expressive language (aka talking) but are still able to communicate via limited language and technology. Hattie fits this as she is behind on her expressive language quite a bit.
The low muscle tone makes it difficult to walk – so we see many in wheelchairs.  We do not know what the future looks like for Hattie
Therapies such as Physical, Occupation and Speech are still very critical in continuing to help build strength and work through global delay.
for the GNB-1 Current research library if your feeling fancy and would like to look at some more medical research journals.