Children with a mutation on IRF2BPL gene are born healthy. But as early as 2 year old, they begin to display progressive, severe neurodevelopmental regression. They commonly suffer from loss of ability to control their muscles and often develop seizure. In most severe cases, the children become unable to walk, stand, sit, speak or swallow as early as 4-5 years old and bound to a wheelchair and feeding tube.
Almost nothing is known about the gene and no treatment exists for the disease.
But lately, an international group of researchers has discovered that IRF2BPL mutations lead to neurodegeneration in fruit flies, which gives patients and family members a hope for a possible cure in the future.