WHAT IS UBA5?
"a genetic life threatening progressive neurological disorder"
Definition
The Ubiquitin-like modifier-activity enzyme 5 (UBA5) gene contains instructions for the UBA5 protein which is critical to cellular breakdown and function.
Mutations in the UBA5 gene can result in protein malfunction and even disease.
Symptoms
Individuals with this genetic mutation suffer from non-retractable epilepsy, dystonia, developmental delays, microcephaly, hypotonia, spasticity, failure to thrive, and vision defects. UBA5 also causes progressive brain deterioration, atrophy, and necrosis.
Treatment
There is currently no standard treatment for any one person. Most of our UBA5 warriors are taking multiple medications only to make symptoms manageable. Many of these medications only last a short amount of time before they need to be
re-evaluated.
How do you receive a UBA5 diagnosis?
Many of our UBA5 families were diagnosed via Whole-Exome Sequencing Genetic Testing (WES) or Genome Genetic Testing. Due to the gene mutation being so rare, it is not included in prenatal genetic testing or during newborn screening tests. Most of our warriors went through many different tests including MRI's, EEG's, spinal taps, multiple genetic tests before more genetic testing was recommended by their provider or requested by the family.
Recently diagnosed?
Has someone you love been diagnosed with UBA5? If so, we want you to know you are NOT alone. We have an awesome group of UBA5 families from around the world that are a wonderful resource when you have questions or just need to connect with someone who is going through the same journey. Please reach out to us using the form below or contact us via Facebook at "Life with UBA5 Mutation."