This page is to help raise awareness and connect with others that have been diagnosed UBA5 gene mutation. This page represents the UBA5 Foundation. The UBA5 Foundation was created by two Kansas mothers who's children are affected with UBA5. Our mission is to raise funds to support on-going research for UBA5. We believe research will lead to therapeutics to treat symptoms of UBA5 creating a better quality of life for those affected. We also firmly believe a CURE is possible with research. Currently, there are only around 30-40 people affected worldwide and growing. Individuals with this genetic mutation suffer from intractable epilepsy, dystonia, developmental delays, microcephaly, hypotonia, spasticity, failure to thrive, and vision defects. UBA5 also causes progressive brain deterioration, atrophy and necrosis. Little is currently known about this mutation and there is no standard treatment for any one patient.