Autoimmune encephalopathy with parasomnia and obstructive sleep apnea
Synonyms: Anti-IgLON5 disease · Anti-IgLON5 syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Elderly
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autoimmune encephalopathy with parasomnia and obstructive sleep apnea | Anti-IgLON5 disease · Anti-IgLON5 syndrome |
| fr | Encéphalopathie auto-immune avec parasomnie et apnée obstructive du sommeil | Syndrome anti-IgLON5 |
| de | Autoimmune Enzephalopathie mit Parasomnie und obstruktiver Schlafapnoe | Anti-IgLON5-Krankheit · Anti-IgLON5-Syndrom |
| es | Encefalopatía autoinmune con parasomnia y apnea obstructiva del sueño | Enfermedad anti-IgLON5 · Síndrome anti-IgLON5 |
| it | Encefalopatia autoimmune con parasonnia e apnea ostruttiva durante il sonno | |
| nl | Auto-immune encefalopathie met parasomnie en obstructieve slaapapneu | Anti-IgLON5-syndroom · Anti-IgLON5-ziekte |
| pt | Encefalopatia autoimune com parasonia e apneia obstrutiva do sono | |
| pl | Autoimmunologiczna encefalopatia z parasomnią i obturacyjnym bezdechem sennym | = en |
| cs | Autoimunitní encefalopatie s parasomnií a obstruktivní spánkovou apnoí | = en |
| uk | Аутоімунна енцефалопатія з парасомнією та обструктивним апное уві сні | Анти-IgLON5 хвороба · Синдром анти-IgLON5 |
| zh | 自身免疫性脑病伴异常睡眠和阻塞性睡眠呼吸暂停 | 抗IgLON5综合征 |
| tr | Parasomni ve obstrüktif uyku apnesi ile seyreden otoimmün ensefalopati | Anti-IgLON5 hastalığı · Anti-IgLON5 sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G04.8 | NTBT | attributed | validated |
| MONDO | 0018489 | E | validated | |
| UMLS | C4707562 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98033Rare neurologic disease with psychiatric involvement
rare neurological diseases - ORPHA:68354Rare sleep disorder
rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 2623676[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2623676[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/420789
- This record as JSON: /data/d/420789.json