IRF2BPL-related disorders

Disease Overview

IRF2BPL-related disorders are a group of very rare neurodegenerative disorders with neurological symptoms that generally get worse over time. People with these disorders commonly have normal initial development followed by regression and loss of skills.[15077][15078][15079] Symptoms include loss of motor skills (like walking and crawling), loss of speech, abnormal movements, and seizures. These disorders are caused by genetic changes (mutations) of the interferon regulatory factor 2 binding-like (IRF2BPL) gene, which occur for the first time in the affected person.[15079] IRF2BPL-related disorders have been diagnosed through a genetic test known as exome sequencing. There is no treatment for these disorders. Medication and supportive care can help with some of the symptoms. The long-term outlook for people with these disorders is unknown.

Synonyms

• Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
• NEDAMSS