Autoimmune encephalopathy with parasomnia and obstructive sleep apnea
Synonyms: Anti-IgLON5 disease | Anti-IgLON5 syndrome
A rare neurologic disorder characterized by a unique non-REM and REM parasomnia with sleep breathing dysfunction gait instability and repetitive episodes of respiratory insufficiency as well as autoantibodies against IgLON5. Patients may present stridor chorea limb ataxia abnormal ocular movements and bulbar symptoms (i.e. dysphagia dysarthria episodic central hypoventilation) with normal brain MRI. Excessive day sleepiness and cognitive deterioration have also been reported.
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
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Autoimmune encephalopathy with parasomnia and obstructive sleep apnea?
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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.
FamilieSCN2A Foundation
"Families" is part of our name for a reason. Rare and devastating, SCN2A-related disorders affect the entire family. Our VISION is a world with effective treatments and cures for all SCN2A-related disorders. Our MISSION is to accelerate research, build community and advocate to improve the lives of those affected by SCN2A-related disorders around the world.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Clinical Trials
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