About The Disease
Mutations like Elly’s in the IRF2BPL (Interferon regulatory factor 2 binding protein-like) gene are known to cause a neurodegenerative disease called Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures (NEDAMSS). The mutation affects the central nervous system and is a regressive disorder. It can impact motor skills, speech, eating, and eyesight, among other functions.
While symptoms can appear in the first months of life, most individuals show their first symptoms in early childhood after meeting normal developmental milestones. Initial symptoms may include seizures, uncontrollable movements, abnormal eye movements, and developmental delays. There is no known cure or treatment for the disease.
See the following for more information:
IRF2BPL Summary Research Report
