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 September 2023.
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Autoimmune encephalopathy with parasomnia and obstructive sleep apnea?
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Advocacy Organizations
FamilieSCN2A Foundation
We are an organization created by parents of children diagnosed with rare forms of Epilepsy and Autism as a result of a change in the SCN2A gene. Our vision is to find effective treatments and a cure for SCN2A related disorders. Our mission is to improve the lives of those affected by SCN2A related disorders through research, public awareness, family support and patient advocacy.
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Clinical Trials
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