Locked-in syndrome
Synonyms: LIS · Pseudocoma
- Type
- Clinical syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- All ages
- Status
- active
A rare neurologic disease characterized by severe paralysis of the limbs and the oral structures causing the person to be completely dependent on help in all activities of daily living and communication, while having preserved cognition. Most commonly, the term locked-in syndrome (LIS) is used when the condition is caused by acquired brain injury (as in this text), but sometimes also when referring to the advanced stage of certain neurodegenerative disorders.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Locked-in syndrome | LIS · Pseudocoma |
| fr | Locked-in syndrome | LIS · Pseudo-coma · Syndrome d'enfermement · Syndrome de verrouillage |
| de | Locked-in-Syndrom | LIS · Pseudokoma |
| es | Síndrome de cautiverio | Pseudocoma · Síndrome de enclaustramiento |
| it | Sindrome ''locked-in'' | = en |
| nl | Locked-in syndroom | 'Locked in'-syndroom · LIS · Pseudocoma |
| pt | Síndrome de encarceramento | LIS · Pseudocoma · Síndrome ´locked-in´ |
| pl | Zespół zamknięcia | = en |
| cs | Locked-in syndrom | Cerebromedullospinální rozpojení · Syndrom uzamčení |
| uk | Синдром запертої людини | LIS · Псевдокома |
| zh | 闭锁综合征 | 脑延脊髓中断 |
| tr | Locked-in sendromu | Serebromedullospinal ayrılma |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | G83.5 | NTBT | attributed | validated |
| ICD-11 | 8E45 | NTBT | index | validated |
| MONDO | 0016567 | E | validated | |
| MeSH | D000080422 | E | validated | |
| UMLS | C0023944 | E | validated | |
| GARD | 6919 | E | validated | |
| MedDRA | 10024792 | 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 (1):
- ORPHA:98006Rare neurologic disease
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 | 33 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
16 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000478 | Abnormality of the eye | |
| HP:0001608 | Abnormality of the voice | |
| HP:0000504 | Abnormality of vision | |
| HP:0002425 | Anarthria | |
| HP:0000708 | Atypical behavior | |
| HP:0100021 | Cerebral palsy | |
| HP:0000651 | Diplopia | |
| HP:0001276 | Hypertonia | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0001257 | Spasticity | |
| HP:0002273 | Tetraparesis | |
| HP:0002445 | Tetraplegia | |
| Frequent (79-30%) | ||
| HP:0003781 | Excessive salivation | |
| HP:0011968 | Feeding difficulties | |
| HP:0002205 | Recurrent respiratory infections | |
| Occasional (29-5%) | ||
| HP:0000365 | Hearing impairment | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2406
- This record as JSON: /data/d/2406.json