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. 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. 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.

IRF2BPL-related disorders. Most individuals start out having normal development with normal motor skills and speech. Over time, affected individuals have neurological and developmental symptoms that slowly get worse. Symptoms can include loss of speech, abnormal movements, loss of muscle control, and seizures. Other symptoms include abnormal eye movements, loss of motor milestones (like crawling and walking), and difficulty swallowing. Intellectual ability may or may not be affected. The age of onset of symptoms ranges from early childhood to adulthood.

The severity of symptoms seems to be related to the type of mutation found in the IRF2BPL gene. Gene mutations that result in a short non-working protein (nonsense mutations) seem to lead to more severe symptoms than other types of mutations.

IRF2BPL-related disorders are caused by mutations (genetic changes) in the IRF2BPL gene. The protein made by this gene is found in many different organs, including the brain. It is unclear how the protein made by this gene works in the body and why changes in the gene result in these disorders. The IRF2BPL protein may be involved in the regulation and function of other genes.

IRF2BPL-related disorders are diagnosed by at type of genetic testing known as exome sequencing. Exome sequencing is a technology that allows doctors and researchers to study many different genes at the same time. Exome sequencing involves searching the genetic code for mistakes that change how the protein-making parts of a gene work.

IRF2BPL-related disorders is focused on treating specific symptoms. Seizures associated with IRF2BPL genemutations have been reported as being difficult to control with medication.

IRF2BPL-related disorders are progressive, meaning the symptoms get worse over time. People with these disorders may lose the ability to walk, talk, and eat. Over time, they may require placement of a tube into the stomach to aid with feeding as well as a mechanical respirator to help them breath. The long-term outlook for people with these disorders is unclear.