IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome
A rare genetic neurological disorder characterized by childhood onset of severe global neurodevelopmental regression with eventual loss of independent walking and loss of language and fine and gross motor skills and development of severe dysphagia requiring tube feeding seizures cerebellar syndrome dystonia and other neurologic manifestations. Brain imaging shows progressive cerebral and/or cerebellar atrophy in most cases. A less severe phenotype associated with missense mutations shows no regression or movement abnormalities ambulation is preserved and brain imaging is normal.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Yellow for Yiannis
We are striving to become the leading resource for families ours included for ultra rare diseases specifically IRF2BPL.IRF2BPL is an ultra rare fatal progressive neurodegenerative afflicting 50 +/- individuals globally, majority being children. There is zero treatment or cure YET. That is where Yellow For Yiannis comes into the picture. We are funding critical research to develop gene therapy.
Clinical Trials
For a list of clinical trials in this disease area, please click here.