IRF2BPL

NEDAMSS, standing for Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures, is a rare neurodegenerative disease that affects children with mutations in the IRF2BPL gene. Patients diagnosed with IRF2BPL-related disorders typically enjoy normal development until approximately 3.5 years of age. However, they then face the rapid onset of developmental regression, including delays, loss of speech, abnormal movements, and seizures, which significantly impair their ability to walk, talk, and eat. As the symptoms progressively worsen, individuals with these disorders often require comprehensive medical support, including g-tube feeding for nutrition and mechanical respiration for breathing.

IRF2BPL Organizations and Resources