Locked-in syndrome
disease diseaseOn this page
Also known as Cerebromedullospinal disconnectionLocked In Syndromelocked-in state
Summary
Locked-in syndrome (MONDO:0016567) is a disease and 16 clinical trials. A subtype of nervous system disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
- Phenotypes (HPO): 16
- Clinical trials: 16
Clinical features
Epidemiology
Prevalence records
2 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Cases/families | 33 | Worldwide | Validated | |
| Point prevalence | <1 / 1 000 000 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
16 HPO clinical features (Orphanet curated; top 16 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000478 | Abnormality of the eye | Very frequent (80-99%) |
| HP:0000504 | Abnormality of vision | Very frequent (80-99%) |
| HP:0000651 | Diplopia | Very frequent (80-99%) |
| HP:0000708 | Atypical behavior | Very frequent (80-99%) |
| HP:0001257 | Spasticity | Very frequent (80-99%) |
| HP:0001276 | Hypertonia | Very frequent (80-99%) |
| HP:0001608 | Abnormality of the voice | Very frequent (80-99%) |
| HP:0002093 | Respiratory insufficiency | Very frequent (80-99%) |
| HP:0002273 | Tetraparesis | Very frequent (80-99%) |
| HP:0002425 | Anarthria | Very frequent (80-99%) |
| HP:0002445 | Tetraplegia | Very frequent (80-99%) |
| HP:0100021 | Cerebral palsy | Very frequent (80-99%) |
| HP:0002205 | Recurrent respiratory infections | Frequent (30-79%) |
| HP:0003781 | Excessive salivation | Frequent (30-79%) |
| HP:0011968 | Feeding difficulties | Frequent (30-79%) |
| HP:0000365 | Hearing impairment | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | locked-in syndrome |
| Mondo ID | MONDO:0016567 |
| MeSH | D000080422 |
| Orphanet | 2406 |
| DOID | DOID:12697 |
| ICD-10-CM | G83.5 |
| ICD-11 | 17562655 |
| SNOMED CT | 38023001 |
| UMLS | C0023944 |
| MedGen | 7378 |
| GARD | 0006919 |
| MedDRA | 10024792 |
| NORD | 1376 |
| Is cancer (heuristic) | no |
Also known as: Cerebromedullospinal disconnection · Locked In Syndrome · locked-in state
Disease family
This is a subtype of nervous system disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › nervous system disorder › locked-in syndrome
Related subtypes (71): congenital nervous system disorder, central nervous system disorder, autoimmune disorder of the nervous system, cranial nerve neuropathy, peripheral nervous system disorder, neuronitis, diplegia of upper limb, retinal disorder, developmental disability, restless legs syndrome, movement disorder, toxic encephalopathy, Barre-Lieou syndrome, Gerstmann syndrome, drug-induced akathisia, drug-induced dyskinesia, stiff-person syndrome, Worster-Drought syndrome, corneal-cerebellar syndrome, pachygyria-intellectual disability-epilepsy syndrome, porencephaly-cerebellar hypoplasia-internal malformations syndrome, symmetrical thalamic calcifications, neonatal brainstem dysfunction, primary orthostatic hypotension, rippling muscle disease with myasthenia gravis, periodic paralysis, qualitative or quantitative protein defects in neuromuscular diseases, specific learning disability, cerebellar hypoplasia-tapetoretinal degeneration syndrome, dopa-responsive dystonia, idiopathic recurrent stupor, chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids, spontaneous periodic hypothermia, Sydenham chorea, duplication of the pituitary gland, Balint syndrome, paraneoplastic neurologic syndrome, persistent idiopathic facial pain, serotonin syndrome, hypothalamic adipsic hypernatraemia syndrome, exercise-induced malignant hyperthermia, perineural cyst, neuromuscular disease, neuromyelitis optica, AL amyloidosis, AA amyloidosis, neuroleptic malignant syndrome, infectious disorder of the nervous system, central nervous system malformation, synaptopathy, nervous system neoplasm, sensory ganglionopathy, radiculitis, wet beriberi, perceptual disorders, prepubertal anorexia nervosa, neurocutaneous syndrome, neurovascular disorder, Wallerian degeneration, nervous system injury, neurosarcoidosis, neuroendocrine disorder, tubulinopathy, atactic disorder, hereditary neurological disease, meningitis-retention syndrome, KIF1A related neurological disorder, neurological pain disorder, neurodevelopmental disorder, post 5-alpha-reductase inhibitors treatment syndrome, post-selective serotonin reuptake inhibitor sexual dysfunction
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 16.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 16 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT00912041 | Not specified | RECRUITING | BrainGate2: Feasibility Study of an Intracortical Neural Interface System for Persons With Tetraplegia |
| NCT03567213 | Not specified | RECRUITING | Investigation on the Cortical Communication (CortiCom) System |
| NCT05470478 | Not specified | NOT_YET_RECRUITING | iBCI Optimization for Veterans With Paralysis |
| NCT05724173 | Not specified | RECRUITING | Feasibility of the BrainGate2 Neural Interface System in Persons With Tetraplegia |
| NCT06094205 | Not specified | RECRUITING | Feasibility of the BrainGate2 Neural Interface System in Persons With Tetraplegia (BG-Speech-02) |
| NCT06207591 | Not specified | RECRUITING | Investigation on the Cortical Communication System |
| NCT07257601 | Not specified | NOT_YET_RECRUITING | TDCS-RTMS Intervention for Motor Function |
| NCT07460037 | Not specified | RECRUITING | Chinese-Specific Speech Imagery Coding Using High-Density ECoG |
| NCT01964664 | Not specified | COMPLETED | Mindfulness Meditation for Subjects With Severe Speech and Physical Impairments |
| NCT02224469 | Not specified | COMPLETED | First Study With a Brain Implant to Help Locked-in Patients Communicate at Home |
| NCT02772302 | Not specified | COMPLETED | Feasibility of mindBEAGLE in Disorders of Consciousness or Locked-In Syndrome |
| NCT03213561 | Not specified | TERMINATED | Stable and Independent Communication Brain-computer Interfaces |
| NCT03811301 | Not specified | UNKNOWN | [BrainConnexion] - Neurodevice Phase I Trial |
| NCT04468919 | Not specified | COMPLETED | Optimizing BCI-FIT: Brain Computer Interface - Functional Implementation Toolkit |
| NCT04576650 | Not specified | WITHDRAWN | Brain-Computer Interface Implant for Severe Communication Disability |
| NCT05444075 | Not specified | UNKNOWN | A Method for Communication With Arabic Patients Suffering From Classic Locked- in Syndrome |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.