About The Disease
Identified in 2016, There is still a lot to learn about IRF2BPL
IRF2BPL-related disorders are a group of very rare neurodegenerative disorders with neurological symptoms that generally get worse over time. People with these disorders start out having normal development with normal motor skills and speech, followed by regression and loss of skills.
Symptoms of severity can include loss of motor skills (like walking and crawling), 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.
The age of onset of symptoms ranges from early childhood to adulthood. The long-term outlook for people with these disorders is unknown and symptoms will vary from person to person.
IRF2BPL Related Disorders
People with the same disease may not share all the same symptoms. 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. Mild cases can present with Autism Spectrum Disorder whereas more severe cases can lead to loss of mobility, communication, and loss of muscle control of the entire body. Symptoms are similar to ALS, Alzheimer’s, and Parkinsonism.
IRF2BPL-related disorders are caused by mutations 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.
Epilepsy is a central nervous system (neurological) disorder in which brain activity becomes abnormal, causing seizures or periods of unusual behavior, sensations, and sometimes loss of awareness.
Seizure symptoms can vary widely. Some people with epilepsy simply stare blankly for a few seconds during a seizure, while others repeatedly twitch their arms or legs.
Dystonia is a hyperkinetic movement disorder characterized by involuntary, sustained or intermittent muscle contractions causing abnormal movements, postures or both. Dystonia is a disorder characterized by involuntary muscle contractions that cause slow repetitive movements or abnormal postures.
Autism Spectrum Disorder
Autism spectrum disorder (ASD) is a developmental disability caused by differences in the brain. Some people with ASD have a known difference, such as a genetic condition. Other causes are not yet known. Scientists believe there are multiple causes of ASD that act together to change the most common ways people develop.
Developmental regression is the progressive loss of previously acquired skills/milestones. Developmental regression is when a child who has reached a certain developmental stage begins to lose previously acquired milestones.
The term "movement disorders" refers to a group of nervous system (neurological) conditions that cause abnormal increased movements, which may be voluntary or involuntary. Movement disorders can also cause reduced or slow movements.
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