MCID: LCK001
MIFTS: 45

Locked-in Syndrome

Categories: Cardiovascular diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Locked-in Syndrome

MalaCards integrated aliases for Locked-in Syndrome:

Name: Locked-in Syndrome 12 77 54 55 60 15 74
Cerebromedullospinal Disconnection 54 60
Locked in Syndrome 12 54
Quadriplegia 45 74
Locked-in State 12

Characteristics:

Orphanet epidemiological data:

60
locked-in syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:12697
ICD9CM 36 344.81
MeSH 45 D011782
SNOMED-CT 69 38023001
ICD10 34 G83.5
ICD10 via Orphanet 35 G83.8
UMLS via Orphanet 75 C0023944
Orphanet 60 ORPHA2406

Summaries for Locked-in Syndrome

NIH Rare Diseases : 54 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 ichthyosis, spastic quadriplegia, and mental retardation and spastic quadriplegia, and has symptoms including muscle weakness, ophthalmoplegia and hemiplegia. 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 drugs Hydrocortisone acetate and Hydrocortisone have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and spinal cord, and related phenotypes are diplopia and spasticity

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 : 55 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 : 77 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 215)
# Related Disease Score Top Affiliating Genes
1 ichthyosis, spastic quadriplegia, and mental retardation 12.6
2 spastic quadriplegia 12.5
3 neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures 12.5
4 microcephaly with spastic quadriplegia 12.1
5 spastic quadriplegia, retinitis pigmentosa, and mental retardation 12.1
6 absent eyebrows and eyelashes with mental retardation 11.6
7 central pontine myelinolysis 11.6
8 paraplegia 11.4
9 spinal cord injury 11.3
10 epileptic encephalopathy, early infantile, 5 11.3
11 pelizaeus-merzbacher disease 11.3
12 alternating hemiplegia of childhood 1 11.1
13 alternating hemiplegia of childhood 2 11.1
14 epileptic encephalopathy, early infantile, 53 11.1
15 8p inverted duplication/deletion syndrome 11.1
16 extrapontine myelinolysis 11.1
17 microcephaly, seizures, spasticity, and brain calcifications 11.0
18 spastic tetraplegia, thin corpus callosum, and progressive microcephaly 11.0
19 spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome 11.0
20 spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 11.0
21 congenital ichthyosis-microcephalus-tetraplegia syndrome 11.0
22 inherited congenital spastic tetraplegia 11.0
23 porphyria variegata 11.0
24 argininemia 11.0
25 mitochondrial complex ii deficiency 11.0
26 allan-herndon-dudley syndrome 11.0
27 epileptic encephalopathy, early infantile, 4 11.0
28 cerebral palsy, spastic quadriplegic, 2 11.0
29 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum 11.0
30 immunodeficiency 49 11.0
31 spastic cerebral palsy 11.0
32 encephalocele 11.0
33 familial glucocorticoid deficiency 11.0
34 spastic paraplegia 16 11.0
35 thrombosis 10.2
36 epidural abscess 10.1
37 arthritis 10.1
38 cerebral palsy 10.1
39 spinal stenosis 10.1
40 amyotrophic lateral sclerosis 1 10.1
41 intermittent claudication 10.1
42 lateral sclerosis 10.1
43 rheumatoid arthritis 10.0
44 scoliosis 10.0
45 hemiplegia 10.0
46 hypokalemia 10.0
47 pure autonomic failure 10.0
48 lymphoma 10.0
49 ptosis 10.0
50 west nile virus 10.0

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:

60 33 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diplopia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000651
2 spasticity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001257
3 respiratory insufficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0002093
4 tetraplegia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002445
5 behavioral abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0000708
6 abnormality of the voice 60 33 hallmark (90%) Very frequent (99-80%) HP:0001608
7 cerebral palsy 60 33 hallmark (90%) Very frequent (99-80%) HP:0100021
8 tetraparesis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002273
9 anarthria 60 33 hallmark (90%) Very frequent (99-80%) HP:0002425
10 recurrent respiratory infections 60 33 frequent (33%) Frequent (79-30%) HP:0002205
11 feeding difficulties 60 33 frequent (33%) Frequent (79-30%) HP:0011968
12 excessive salivation 60 33 frequent (33%) Frequent (79-30%) HP:0003781
13 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
14 hypertonia 60 Very frequent (99-80%)
15 abnormality of the eye 60 Very frequent (99-80%)
16 abnormality of vision 60 Very frequent (99-80%)

UMLS symptoms related to Locked-in Syndrome:


muscle weakness, ophthalmoplegia, hemiplegia, quadriparesis, other quadriplegia

Drugs & Therapeutics for Locked-in Syndrome

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

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrocortisone acetate Approved, Vet_approved Phase 1, Phase 2 50-03-3
2
Hydrocortisone Approved, Vet_approved Phase 1, Phase 2 50-23-7 5754
3
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 1, Phase 2,Phase 2 70-16-6, 59-43-8 1130
4
Folic Acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
5
Vitamin C Approved, Nutraceutical Phase 1, Phase 2,Phase 2 50-81-7 54670067 5785
6 Pharmaceutical Solutions Phase 1, Phase 2
7 Antioxidants Phase 1, Phase 2
8 Micronutrients Phase 1, Phase 2
9 Vitamins Phase 1, Phase 2
10 Vitamin B Complex Phase 1, Phase 2
11 Hydrocortisone 17-butyrate 21-propionate Phase 1, Phase 2
12 Hydrocortisone hemisuccinate Phase 1, Phase 2
13 Vasoconstrictor Agents Phase 1, Phase 2
14 Folate Phase 1, Phase 2
15 Nutrients Phase 1, Phase 2
16 Anti-Inflammatory Agents Phase 1, Phase 2
17 Protective Agents Phase 1, Phase 2
18 Trace Elements Phase 1, Phase 2
19 Hydrocortisone-17-butyrate Phase 1, Phase 2
20 Vitamin B9 Phase 1, Phase 2
21 Thiamin Phase 1, Phase 2

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 [BrainConnexion] - Neurodevice Phase II Trial Recruiting NCT03811301 Phase 2
2 Vitamin C, Steroids, and Thiamine, and Cerebral Autoregulation and Functional Outcome in Septic Shock Recruiting NCT03649633 Phase 1, Phase 2 Stress-dose Hydrocortisone plus Vitamin C;isotonic sodium chloride solution placebo plus isotonic sodium chloride solution placebo
3 Communication by Brain - Computer Interface in Amyotrophic Lateral Sclerosis:Feasibility Study Unknown status NCT01897818 Not Applicable
4 Mindfulness Meditation for Subjects With Severe Speech and Physical Impairments Completed NCT01964664 Not Applicable
5 Brain Computer Interface Complete locked-in State Communication Recruiting NCT02980380
6 Feasibility of mindBEAGLE in Disorders of Consciousness or Locked-In Syndrome Recruiting NCT02772302 Not Applicable
7 First Study With a Brain Implant to Help Locked-in Patients Communicate at Home Recruiting NCT02224469 Not Applicable
8 Stable and Independent Communication Brain-computer Interfaces Recruiting NCT03213561 Not Applicable
9 Investigation on the Cortical Communication (CortiCom) System Recruiting NCT03567213 Not Applicable
10 BrainGate2: Feasibility Study of an Intracortical Neural Interface System for Persons With Tetraplegia Recruiting NCT00912041 Not Applicable
11 CONNECT-ME: Consciousness in Neurocritical Care Cohort Study Using fMRI and EEG Recruiting NCT02644265

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:

42
Brain, Eye, Spinal Cord, Prostate, B Cells, Thyroid, Myeloid

Publications for Locked-in Syndrome

Articles related to Locked-in Syndrome:

(show top 50) (show all 299)
# Title Authors Year
1
Comprehensive, technology-based, team approach for a patient with locked-in syndrome: A case report of improved function & quality of life. ( 28750192 )
2019
2
Locked-in syndrome following meningitis with brainstem abscess. ( 30274815 )
2019
3
Acquisition of Practical Communication by Introducing a New Input Method for Locked-In Syndrome in an Older Adult: A Case Report. ( 30609233 )
2019
4
Transient Incomplete Locked-In Syndrome Secondary to Supratentorial Gunshot Wound. ( 30922899 )
2019
5
Diffusion tensor imaging reveals diffuse white matter injuries in locked-in syndrome patients. ( 30969973 )
2019
6
Locked-in syndrome in Sweden, an explorative study of persons who underwent rehabilitation: a cohort study. ( 31005907 )
2019
7
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
8
Toward an Attention-Based Diagnostic Tool for Patients With Locked-in Syndrome. ( 27821482 )
2018
9
Locked-in syndrome post snake bite: a rare presentation. ( 28835176 )
2018
10
Locked-in Syndrome and 18F-fluorodeoxyglucose-positron Emission Tomography/Computed Tomography: Observations from a Case of Basilar Artery Thrombosis. ( 29430121 )
2018
11
Stable long-term BCI-enabled communication in ALS and locked-in syndrome using LFP signals. ( 29694279 )
2018
12
Cortical Brain Changes in Patients With Locked-In Syndrome Experiencing Hallucinations and Delusions. ( 29867752 )
2018
13
Locked-in syndrome responding to thrombolytic therapy. ( 29983216 )
2018
14
Locked-in syndrome in post snake bite: can it be unlocked? ( 30005589 )
2018
15
Effect of Exercise on Physical Recovery of People with Locked-In Syndrome after Stroke: What Do We Know from the Current Evidence? A Systematic Review. ( 30007974 )
2018
16
Ethical Considerations in Ending Exploratory Brain-Computer Interface Research Studies in Locked-in Syndrome. ( 30198467 )
2018
17
Teaching NeuroImages: The heart sign in a patient with apparent locked-in syndrome. ( 30478079 )
2018
18
Discomfort as a Catalyst: An Ethical Analysis of Donation after Cardiac Death in a Patient with Locked-In Syndrome. ( 30605441 )
2018
19
Locked-in syndrome in a patient with acute obstructive hydrocephalus, caused by large unruptured aneurysm of the basilar artery (BA). ( 27633006 )
2017
20
Clinical feasibility of brain-computer interface based on steady-state visual evoked potential in patients with locked-in syndrome: Case studies. ( 27914171 )
2017
21
Locked-in Syndrome Due to Transtentorial Herniation and Kernohan Notch Phenomenon. ( 28301869 )
2017
22
Reverse Locked-In Syndrome. ( 28324264 )
2017
23
Withdrawal of invasive ventilation in a patient with motor neurone disease and total locked-in syndrome. ( 28428229 )
2017
24
Differential Diagnosis and Management of Incomplete Locked-In Syndrome after Traumatic Brain Injury. ( 28695029 )
2017
25
Roald Dahl and the complete locked-in syndrome: "Cold dead body, living brain". ( 28716259 )
2017
26
Augmentative and Alternative Communication Effects on Quality of Life in Patients with Locked-in Syndrome and Their Caregivers. ( 28733123 )
2017
27
Assessment of needs, psychological impact and quality of life in families of patients with locked-in syndrome. ( 28837360 )
2017
28
Locked-In Syndrome: Case Report and Discussion of Decisional Capacity. ( 26674610 )
2016
29
A Case Report of Locked-in Syndrome Due to Bilateral Vertebral Artery Dissection After Cervical Spine Manipulation Treated by Arterial Embolectomy. ( 26844510 )
2016
30
The hyperdense basilar artery sign: a case of locked-in syndrome. ( 26928325 )
2016
31
Locked-In Syndrome #303. ( 26950052 )
2016
32
Evaluation of the visual function of patients with locked-in syndrome: Report of 13 cases. ( 27158101 )
2016
33
The Role of Neuroimaging in the Diagnosis, Prognosis and Management of Disorders of Consciousness and Locked-in Syndrome. ( 27347261 )
2016
34
Disembodied Mind: Cortical Changes Following Brainstem Injury in Patients with Locked-in Syndrome. ( 27347263 )
2016
35
Fluctuating locked-in syndrome as a presentation of a bilateral pontine infarction. ( 27385775 )
2016
36
The importance of clinical signs as well as radiological findings in the diagnosis of incomplete locked-in syndrome. ( 28905021 )
2016
37
Locked in syndrome revealing an antiphospholipid syndrome. ( 25955371 )
2015
38
Written production in a case of locked-in syndrome with bilateral corticopontic degeneration. ( 25347464 )
2015
39
Neural Point-and-Click Communication by a Person With Incomplete Locked-In Syndrome. ( 25385765 )
2015
40
Intrathecal baclofen: effects on spasticity, pain, and consciousness in disorders of consciousness and locked-in syndrome. ( 25416459 )
2015
41
Neural repair and rehabilitation: Implant helps patient with incomplete locked-in syndrome. ( 25421909 )
2015
42
Near-Death Experiences in patients with locked-in syndrome: Not always a blissful journey. ( 25837796 )
2015
43
Man with locked-in syndrome challenges GMC ruling on doctors' involvement in ending his life. ( 26124499 )
2015
44
Recovery From Locked-in Syndrome. ( 26167898 )
2015
45
Beyond the gaze: Communicating in chronic locked-in syndrome. ( 26182228 )
2015
46
Quality of life in patients with locked-in syndrome: Evolution over a 6-year period. ( 26187655 )
2015
47
Traumatic atlanto-occipital dissociation presenting as locked-in syndrome. ( 26190221 )
2015
48
Locked-in Syndrome due to Central Pontine Myelinolysis: Case Report. ( 25379502 )
2014
49
A novel spelling system for locked-in syndrome patients using only eye contact. ( 24328459 )
2014
50
Brain-computer interface with language model-electroencephalography fusion for locked-in syndrome. ( 24370570 )
2014

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

Sources for Locked-in Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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