MCID: LCK001
MIFTS: 46

Locked-in Syndrome

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Locked-in Syndrome

MalaCards integrated aliases for Locked-in Syndrome:

Name: Locked-in Syndrome 12 76 53 54 59 15 73
Cerebromedullospinal Disconnection 53 59
Locked in Syndrome 12 53
Quadriplegia 44 73
Locked-in State 12

Characteristics:

Orphanet epidemiological data:

59
locked-in syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:12697
ICD10 33 G83.5
ICD9CM 35 344.81
MeSH 44 D011782
SNOMED-CT 68 38023001
Orphanet 59 ORPHA2406
UMLS via Orphanet 74 C0023944
ICD10 via Orphanet 34 G83.8
UMLS 73 C0023944

Summaries for Locked-in Syndrome

NIH Rare Diseases : 53 Locked-in syndromeis a rare neurological disorder characterized by complete paralysis of voluntary muscles, except for those that control the eyes. People with locked-in syndrome are conscious and can think and reason, but are unable to speak or move. Vertical eye movements and blinking can be used to communicate. Locked-in syndrome may be caused by brain stem stroke, traumatic brain injury, tumors, diseases of the circulatory system (bleeding), diseases that destroy the myelin sheath surrounding nerve cells (like multiple sclerosis), infection, or medication overdose.  There is no cure or specific treatments for locked-in syndrome. Supportive therapy for breathing and feeding is very important, especially early on. Physical therapy, comfort care, nutritional support, and prevention of systemic complications such as respiratory infections are the mainstay of treatment. While partial recovery of muscle control is possible, it is somewhat dependent on the cause.Speech therapists can help people with locked-in syndrome communicate more clearly with eye movements and blinking. However, electronic communication devices, including patient-computer interfaces such as infrared eye movement sensors and computer voice prosthetics, are allowing people with locked-in syndrome to communicate more freely and have access to the internet. Motorized wheelchairs have also increased independence.  Many people with locked-in syndrome do not live beyond the early (acute) stage due to medical complications. However, others may live for another 10-20 years and report a good quality of life despite the severe disabilities caused by the syndrome. 

MalaCards based summary : Locked-in Syndrome, also known as cerebromedullospinal disconnection, is related to quadriplegia and spastic quadriplegia, and has symptoms including hemiplegia, ophthalmoplegia and muscle weakness. An important gene associated with Locked-in Syndrome is EP300 (E1A Binding Protein P300), and among its related pathways/superpathways is Direct p53 effectors. The drug Menthol has been mentioned in the context of this disorder. Affiliated tissues include eye, brain and pons, and related phenotypes are hearing impairment and diplopia

Disease Ontology : 12 A nervous system disease that is characterized by complete paralysis of all voluntary muscles except for the ones that control the movements of the eyes.

NINDS : 54 Locked-in syndrome is a rare neurological disorder characterized by complete paralysis of voluntary muscles in all parts of the body except for those that control eye movement. It may result from traumatic brain injury, diseases of the circulatory system, diseases that destroy the myelin sheath surrounding nerve cells, or medication overdose. Individuals with locked-in syndrome are conscious and can think and reason, but are unable to speak or move. The disorder leaves individuals completely mute and paralyzed. Communication may be possible with blinking eye movements

Wikipedia : 76 Locked-in syndrome (LIS), also known as pseudocoma, is a condition in which a patient is aware but... more...

Related Diseases for Locked-in Syndrome

Diseases related to Locked-in Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 quadriplegia 12.4
2 spastic quadriplegia 12.3
3 ichthyosis, spastic quadriplegia, and mental retardation 12.3
4 microcephaly with spastic quadriplegia 11.9
5 spastic quadriplegia, retinitis pigmentosa, and mental retardation 11.9
6 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures 11.9
7 congenital ichthyosis, microcephalus, quadriplegia 11.8
8 absent eyebrows and eyelashes with mental retardation 11.4
9 central pontine myelinolysis 11.4
10 paraplegia 11.2
11 spinal cord injury 11.2
12 pelizaeus-merzbacher disease 11.1
13 alternating hemiplegia of childhood 1 10.9
14 alternating hemiplegia of childhood 2 10.9
15 extrapontine myelinolysis 10.9
16 microcephaly, seizures, spasticity, and brain calcifications 10.8
17 spastic tetraplegia, thin corpus callosum, and progressive microcephaly 10.8
18 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome 10.8
19 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 10.8
20 congenital ichthyosis-microcephalus-tetraplegia syndrome 10.8
21 inherited congenital spastic tetraplegia 10.8
22 porphyria variegata 10.8
23 argininemia 10.8
24 mitochondrial complex ii deficiency 10.8
25 allan-herndon-dudley syndrome 10.8
26 cerebral palsy, spastic quadriplegic, 2 10.8
27 epileptic encephalopathy, early infantile, 5 10.8
28 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 10.8
29 immunodeficiency 49 10.8
30 epileptic encephalopathy, early infantile, 53 10.8
31 spastic cerebral palsy 10.8
32 stxbp1 encephalopathy with epilepsy 10.8
33 encephalocele 10.8
34 familial glucocorticoid deficiency 10.8
35 thrombosis 10.1
36 cervicitis 9.9
37 aneurysm 9.9
38 lymphoma 9.8
39 ptosis 9.8
40 cerebritis 9.8
41 decubitus ulcer 9.8
42 myoclonus 9.8
43 nemaline myopathy 9.7
44 myopathy 9.7
45 spondyloarthropathy 1 9.7
46 multiple sclerosis 9.7
47 otitis media 9.7
48 spinal muscular atrophy, type i 9.7
49 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7
50 b-cell lymphomas 9.7

Graphical network of the top 20 diseases related to Locked-in Syndrome:



Diseases related to Locked-in Syndrome

Symptoms & Phenotypes for Locked-in Syndrome

Human phenotypes related to Locked-in Syndrome:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
2 diplopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000651
3 behavioral abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0000708
4 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
5 abnormality of the voice 59 32 hallmark (90%) Very frequent (99-80%) HP:0001608
6 respiratory insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002093
7 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
8 tetraparesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002273
9 anarthria 59 32 hallmark (90%) Very frequent (99-80%) HP:0002425
10 tetraplegia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002445
11 excessive salivation 59 32 frequent (33%) Frequent (79-30%) HP:0003781
12 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
13 cerebral palsy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100021
14 abnormality of the eye 59 Very frequent (99-80%)
15 abnormality of vision 59 Very frequent (99-80%)
16 hypertonia 59 Very frequent (99-80%)

UMLS symptoms related to Locked-in Syndrome:


hemiplegia, ophthalmoplegia, muscle weakness, quadriparesis, other quadriplegia

MGI Mouse Phenotypes related to Locked-in Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.35 EP300 ERCC6 FDXR KLHL40 PLG
2 vision/eye MP:0005391 8.92 EP300 ERCC6 FDXR PLG

Drugs & Therapeutics for Locked-in Syndrome

Drugs for Locked-in Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved Not Applicable 2216-51-5 16666

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Communication by Brain - Computer Interface in Amyotrophic Lateral Sclerosis:Feasibility Study Unknown status NCT01897818 Not Applicable
2 Mindfulness Meditation for Subjects With Severe Speech and Physical Impairments Completed NCT01964664 Not Applicable
3 Brain Computer Interface Complete locked-in State Communication Recruiting NCT02980380
4 Feasibility of mindBEAGLE in Disorders of Consciousness or Locked-In Syndrome Recruiting NCT02772302 Not Applicable
5 First Study With a Brain Implant to Help Locked-in Patients Communicate at Home Recruiting NCT02224469 Not Applicable
6 Stable and Independent Communication Brain-computer Interfaces Recruiting NCT03213561 Not Applicable
7 BrainGate2: Feasibility Study of an Intracortical Neural Interface System for Persons With Tetraplegia Recruiting NCT00912041 Not Applicable
8 CONNECT-ME: Consciousness in Neurocritical Care Cohort Study Using fMRI and EEG Recruiting NCT02644265
9 Investigation on the Cortical Communication (CortiCom) System Not yet recruiting NCT03567213 Not Applicable

Search NIH Clinical Center for Locked-in Syndrome

Cochrane evidence based reviews: quadriplegia

Genetic Tests for Locked-in Syndrome

Anatomical Context for Locked-in Syndrome

MalaCards organs/tissues related to Locked-in Syndrome:

41
Eye, Brain, Pons, B Cells, Spinal Cord, Liver

Publications for Locked-in Syndrome

Articles related to Locked-in Syndrome:

(show top 50) (show all 254)
# Title Authors Year
1
Stable long-term BCI-enabled communication in ALS and locked-in syndrome using LFP signals. ( 29694279 )
2018
2
Locked-in Syndrome and<sup>18</sup>F-fluorodeoxyglucose-positron Emission Tomography/Computed Tomography: Observations from a Case of Basilar Artery Thrombosis. ( 29430121 )
2018
3
The Diving Bell and the Butterfly Revisited: A Fatal Case of Locked-in Syndrome in a Man With Epstein-Barr Virus-Positive Diffuse Large B-Cell Lymphoma, Not Otherwise Specified. ( 29623003 )
2018
4
Cortical Brain Changes in Patients With Locked-In Syndrome Experiencing Hallucinations and Delusions. ( 29867752 )
2018
5
Differential Diagnosis and Management of Incomplete Locked-In Syndrome after Traumatic Brain Injury. ( 28695029 )
2017
6
Comprehensive, technology-based, team approach for a patient with locked-in syndrome: A case report of improved function &amp;amp; quality of life. ( 28750192 )
2017
7
Locked-in Syndrome Due to Transtentorial Herniation and Kernohan Notch Phenomenon. ( 28301869 )
2017
8
Reverse Locked-In Syndrome. ( 28324264 )
2017
9
Assessment of needs, psychological impact and quality of life in families of patients with locked-in syndrome. ( 28837360 )
2017
10
Augmentative and Alternative Communication Effects on Quality of Life in Patients with Locked-in Syndrome and Their Caregivers. ( 28733123 )
2017
11
Withdrawal of invasive ventilation in a patient with motor neurone disease and total locked-in syndrome. ( 28428229 )
2017
12
Roald Dahl and the complete locked-in syndrome: &amp;quot;Cold dead body, living brain&amp;quot;. ( 28716259 )
2017
13
Locked-in syndrome post snake bite: a rare presentation. ( 28835176 )
2017
14
The hyperdense basilar artery sign: a case of locked-in syndrome. ( 26928325 )
2016
15
Clinical feasibility of brain-computer interface based on steady-state visual evoked potential in patients with locked-in syndrome: Case studies. ( 27914171 )
2016
16
The importance of clinical signs as well as radiological findings in the diagnosis of incomplete locked-in syndrome. ( 28905021 )
2016
17
The Role of Neuroimaging in the Diagnosis, Prognosis and Management of Disorders of Consciousness and Locked-in Syndrome. ( 27347261 )
2016
18
A Case Report of Locked-in Syndrome Due to Bilateral Vertebral Artery Dissection After Cervical Spine Manipulation Treated by Arterial Embolectomy. ( 26844510 )
2016
19
Locked-In Syndrome #303. ( 26950052 )
2016
20
Toward an Attention-Based Diagnostic Tool for Patients With Locked-in Syndrome. ( 27821482 )
2016
21
Locked-in syndrome in a patient with acute obstructive hydrocephalus, caused by large unruptured aneurysm of the basilar artery (BA). ( 27633006 )
2016
22
Fluctuating locked-in syndrome as a presentation of a bilateral pontine infarction. ( 27385775 )
2016
23
Evaluation of the visual function of patients with locked-in syndrome: Report of 13 cases. ( 27158101 )
2016
24
Disembodied Mind: Cortical Changes Following Brainstem Injury in Patients with Locked-in Syndrome. ( 27347263 )
2016
25
Retrospective study of the acute period of locked-in syndrome: Consciousness recovery and communication restoration. ( 27676817 )
2016
26
Locked-In Syndrome: Case Report and Discussion of Decisional Capacity. ( 26674610 )
2016
27
Near-Death Experiences in patients with locked-in syndrome: Not always a blissful journey. ( 25837796 )
2015
28
Man with locked-in syndrome challenges GMC ruling on doctors' involvement in ending his life. ( 26124499 )
2015
29
Neural repair and rehabilitation: Implant helps patient with incomplete locked-in syndrome. ( 25421909 )
2015
30
Traumatic atlanto-occipital dissociation presenting as locked-in syndrome. ( 26190221 )
2015
31
Quality of life in patients with locked-in syndrome: Evolution over a 6-year period. ( 26187655 )
2015
32
Recovery From Locked-in Syndrome. ( 26167898 )
2015
33
Intrathecal baclofen: effects on spasticity, pain, and consciousness in disorders of consciousness and locked-in syndrome. ( 25416459 )
2015
34
Locked in syndrome revealing an antiphospholipid syndrome. ( 25955371 )
2015
35
Beyond the gaze: Communicating in chronic locked-in syndrome. ( 26182228 )
2015
36
Locked-in Syndrome due to Central Pontine Myelinolysis: Case Report. ( 25379502 )
2014
37
An independent SSVEP-based brain-computer interface in locked-in syndrome. ( 24838215 )
2014
38
A European survey on attitudes towards pain and end-of-life issues in locked-in syndrome. ( 24911332 )
2014
39
Perioperative use of bispectral (BIS) monitor for a pressure ulcer patient with locked-in syndrome (LIS). ( 25252146 )
2014
40
Written production in a case of locked-in syndrome with bilateral corticopontic degeneration. ( 25347464 )
2014
41
Neural Point-and-Click Communication by a Person With Incomplete Locked-In Syndrome. ( 25385765 )
2014
42
Locked-in syndrome caused by the pressure exerted by the sound gun. ( 25538500 )
2014
43
Complete locked-in syndrome: what's in a name? ( 22935570 )
2013
44
Locked-in syndrome as a result of cyclizine administration. ( 23571205 )
2013
45
Pupil responses allow communication in locked-in syndrome patients. ( 23928079 )
2013
46
Instrumental methods in the diagnostics of locked-in syndrome. ( 23168499 )
2013
47
A conversion disorder or a stroke? A proximal basilar artery thrombosis induced 'locked-in' syndrome in a young Caucasian woman. ( 23505080 )
2013
48
Evaluation of quality of life in complete locked-in syndrome patients. ( 24215251 )
2013
49
A novel spelling system for locked-in syndrome patients using only eye contact. ( 24328459 )
2013
50
Locked-in syndrome. ( 23378122 )
2013

Variations for Locked-in Syndrome

Expression for Locked-in Syndrome

Search GEO for disease gene expression data for Locked-in Syndrome.

Pathways for Locked-in Syndrome

Pathways related to Locked-in Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.74 EP300 FDXR

GO Terms for Locked-in Syndrome

Biological processes related to Locked-in Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription-coupled nucleotide-excision repair GO:0006283 8.96 EP300 ERCC6
2 positive regulation of gene expression, epigenetic GO:0045815 8.62 EP300 ERCC6

Molecular functions related to Locked-in Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein C-terminus binding GO:0008022 8.62 EP300 ERCC6

Sources for Locked-in Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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