MCID: BLP003
MIFTS: 46

Blepharospasm

Categories: Neuronal diseases, Eye diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Blepharospasm

MalaCards integrated aliases for Blepharospasm:

Name: Blepharospasm 12 72 50 28 51 41 14 69

Classifications:



External Ids:

Disease Ontology 12 DOID:529
ICD10 32 G24.5
ICD9CM 34 333.81
MeSH 41 D001764
NCIt 46 C118723
UMLS 69 C0005747

Summaries for Blepharospasm

NINDS : 50 Benign essential blepharospasm (BEB) is a progressive neurological disorder characterized by involuntary muscle contractions and spasms of the eyelid muscles. It is a form of dystonia, a movement disorder in which muscle contractions cause sustained eyelid closure, twitching or repetitive movements. BEB begins gradually with increased frequency of eye blinking often associated with eye irritation. Other symptoms may include increasing difficulty in keeping the eyes open, and light sensitivity. Generally, the spasms occur during the day, disappear in sleep, and reappear after waking. As the condition progresses, the spasms may intensify, forcing the eyelids to remain closed for long periods of time, and thereby causing substantial visual disturbance or functional blindness. It is important to note that the blindness is caused solely by the uncontrollable closing of the eyelids and not by a dysfunction of the eyes. BEB occurs in both men and women, although it is especially common in middle-aged and elderly women.

MalaCards based summary : Blepharospasm is related to lymphedema, hereditary, ii and oromandibular dystonia, and has symptoms including lingual dystonia, oromandibular dystonia and erythema of the eyelids. An important gene associated with Blepharospasm is DRD5 (Dopamine Receptor D5). The drugs Acetylcholine and Silicon have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and testes, and related phenotypes are mortality/aging and vision/eye

Disease Ontology : 12 A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks.

Wikipedia : 72 Blepharospasm is any abnormal contraction or twitch of the eyelid. In most cases, symptoms last for a... more...

Related Diseases for Blepharospasm

Diseases in the Blepharospasm family:

Blepharospasm, Benign Essential

Diseases related to Blepharospasm via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 107)
# Related Disease Score Top Affiliating Genes
1 lymphedema, hereditary, ii 31.8 CAMP DRD5 GCH1 THAP1 TOR1A
2 oromandibular dystonia 29.6 CAMP GCH1 THAP1 TOR1A
3 cervical dystonia 28.9 CAMP DRD5 GCH1 GNAL TOR1A
4 dystonia 28.7 DRD5 GCH1 GNAL THAP1 TIMM8A TOR1A
5 hemidystonia 28.5 CAMP GCH1 THAP1 TOR1A
6 cranio-facial dystonia 28.2 CAMP DRD5 GCH1 THAP1 TOR1A
7 focal dystonia 27.8 CAMP DRD5 GNAL THAP1 TIMM8A TOR1A
8 blepharospasm, benign essential 12.6
9 vernal keratoconjunctivitis 10.9
10 x-linked dystonia-parkinsonism/lubag 10.9
11 hemifacial spasm 10.5
12 cervicitis 10.3
13 apraxia 10.2
14 spasmodic dysphonia 10.2 THAP1 TOR1A
15 torticollis 10.1
16 dystonia 24 10.1 THAP1 TOR1A
17 apraxia of eyelid opening 10.1
18 multifocal dystonia 10.1 CAMP TOR1A
19 dystonia 3, torsion, x-linked 10.0 GCH1 THAP1
20 thiamine metabolism dysfunction syndrome 2 10.0 GCH1 TOR1A
21 strabismus 9.9
22 ptosis 9.9
23 bell's palsy 9.9
24 headache 9.9
25 schwartz-jampel syndrome, type 1 9.9
26 ifap syndrome with or without bresheck syndrome 9.9
27 eyelid disease 9.9 DRD5 HSPG2
28 leukodystrophy, hypomyelinating, 2 9.8 GCH1 TOR1A
29 myasthenia gravis 9.8
30 myasthenia gravis congenital 9.8
31 myoclonus 9.8
32 spasticity 9.8
33 tremor 9.8
34 early-onset generalized dystonia 9.8 GCH1 THAP1 TOR1A
35 dystonia, dopa-responsive 9.8 GCH1 THAP1 TOR1A
36 multiple system atrophy 1 9.7
37 schizophrenia 9.7
38 aging 9.7
39 episodic pain syndrome, familial, 1 9.7
40 entropion 9.7
41 dystonia 1, torsion, autosomal dominant 9.7 CAMP GCH1 TOR1A
42 movement disease 9.7 GCH1 TOR1A
43 autoimmune disease 9.6
44 blood group, i system 9.6
45 multiple sclerosis 9.6
46 facial spasm 9.6
47 corneal dystrophy, fuchs endothelial, 1 9.6
48 systemic lupus erythematosus 9.6
49 migraine with or without aura 1 9.6
50 obsessive-compulsive disorder 9.6

Graphical network of the top 20 diseases related to Blepharospasm:



Diseases related to Blepharospasm

Symptoms & Phenotypes for Blepharospasm

UMLS symptoms related to Blepharospasm:


lingual dystonia, oromandibular dystonia, erythema of the eyelids, spasmodic torticollis, torticollis, myoclonus

MGI Mouse Phenotypes related to Blepharospasm:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.5 CAMP DRD5 GCH1 GNAL HSPG2 THAP1
2 vision/eye MP:0005391 9.02 CAMP DRD5 HSPG2 THAP1 TOR1A

Drugs & Therapeutics for Blepharospasm

Drugs for Blepharospasm (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 50)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 4,Phase 3,Phase 2 51-84-3 187
2
Silicon Approved, Investigational Phase 4 7440-21-3 4082203
3 abobotulinumtoxinA Phase 4,Phase 3,Phase 2
4 Cholinergic Agents Phase 4,Phase 3,Phase 2
5 Neuromuscular Agents Phase 4,Phase 3,Phase 2
6 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
7 onabotulinumtoxinA Phase 4,Phase 3,Phase 2
8 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
9 Botulinum Toxins Phase 4,Phase 3,Phase 2,Phase 1
10 Botulinum Toxins, Type A Phase 4,Phase 3,Phase 2
11 incobotulinumtoxinA Phase 4,Phase 3,Phase 2
12 Pharmaceutical Solutions Phase 3
13
Etanercept Approved, Investigational Phase 1, Phase 2 185243-69-0
14
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178
15 Analgesics Phase 1, Phase 2
16 Gastrointestinal Agents Phase 1, Phase 2
17 Analgesics, Non-Narcotic Phase 1, Phase 2
18 Immunosuppressive Agents Phase 1, Phase 2
19 Anti-Inflammatory Agents Phase 1, Phase 2
20 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
21 Autoantibodies Phase 1, Phase 2
22 Antirheumatic Agents Phase 1, Phase 2
23 Sodium Channel Blockers Phase 2
24 Diuretics, Potassium Sparing Phase 2
25 Anti-Arrhythmia Agents Phase 2
26
Zinc Approved, Investigational 7440-66-6 32051 23994
27
Ephedrine Approved 299-42-3 9294
28
Prednisolone Approved, Vet_approved 50-24-8 5755
29
Cortisone acetate Approved, Investigational 1950-04-4, 50-04-4 5745
30
Pseudoephedrine Approved 90-82-4 7028
31
Methylprednisolone Approved, Vet_approved 83-43-2 6741
32
Carbamazepine Approved, Investigational 298-46-4 2554
33
Menthol Approved Early Phase 1 2216-51-5 16666
34 Micronutrients
35 Trace Elements
36
Cortisone 53-06-5 222786
37 Prednisolone acetate
38 Respiratory System Agents
39 Methylprednisolone acetate
40 Methylprednisolone Hemisuccinate
41 Nasal Decongestants
42 Tetrahydrozoline
43 Vasoconstrictor Agents
44 Ophthalmic Solutions
45 Dihydroxyphenylalanine
46 Prednisolone hemisuccinate
47 Prednisolone phosphate
48 Autonomic Agents
49 Anticonvulsants
50 Zinc Supplement Nutraceutical

Interventional clinical trials:

(show all 46)

# Name Status NCT ID Phase Drugs
1 Efficacy and Safety Study of Meditoxin® to Treat Essential Blepharospasm Completed NCT01259557 Phase 4 Botulinum Toxin Type A
2 Comparison of Two Botulinum Type A Products in the Treatment of Blepharospasm Completed NCT00761592 Phase 4
3 A Retrospective Chart Review of BOTOX® and Xeomin® for the Management of Cervical Dystonia and Blepharospasm Completed NCT02245958 Phase 4
4 Functional Effects of Botox on the Brain Using MRS and fMRI Completed NCT03373162 Phase 4 onabotulinumtoxinA
5 Efficacy of Aurosling in Frontalis Sling Suspension Surgery Completed NCT00753831 Phase 4
6 Post Marketing Surveillance Study of Dysport Completed NCT00210431 Phase 4
7 Frontalis Botulinum Toxin Not yet recruiting NCT03186001 Phase 4 Abobotulinum toxin A
8 Comparison of Korean Botulinum Toxin Type A Versus Botox in the Treatment of Essential Blepharospasm Completed NCT00682760 Phase 3 Korean Botulinum toxin type A (KbtxA) and Botox injection
9 Clinical Study to Evaluate the Efficacy and Safety of Neuronox and Botox With Essential Blepharospasm Completed NCT03216473 Phase 3 Neuronox;Botox
10 Therapeutic Confirmatory Clinical Trial to Evaluate the Safety and Efficacy of "Hugeltox Inj." in Essential Blepharospasm Completed NCT01791881 Phase 3 Hugeltox;Botulinum Toxin Type A(Botox®)
11 IncobotulinumtoxinA (Xeomin) Versus Placebo in the Treatment of Blepharospasm Completed NCT00406367 Phase 3 incobotulinumtoxinA (Xeomin);Placebo
12 Efficacy and Safety Study of Botulinum Toxin Type A Against Placebo to Treat Abnormal Contraction or Twitch of the Eyelid Completed NCT01896895 Phase 3 IncobulinumtoxinA (Xeomin), 25 Units;IncobotulinumtoxinA (Xeomin), 12.5 Units;Placebo;IncobotulinumtoxinA (Xeomin), 35 Units
13 Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia Completed NCT02604186 Phase 2, Phase 3
14 Safety and Efficacy of NABOTA in Treatment of Essential Blepharospasm Recruiting NCT02947815 Phase 2, Phase 3 Clostridium Botulinum Toxin Type A;Clostridium Botulinum Toxin Type A
15 Evaluation of Botulinum Toxin Injection Efficacy in the Treatment of Head Essential Tremor Recruiting NCT02555982 Phase 3 BOTOX ® 200 Unités;Placebo
16 ASIS for Enbrel in Plaque Psoriasis Unknown status NCT02112097 Phase 1, Phase 2 Gadolinium;Gadolinium;Gadolinium;Efficacy of Enbrel subcutaneously at Week 12;Efficacy of Enbrel subcutaneously at Week 24;Efficacy of Enbrel subcutaneously at Week 36;Efficacy of Enbrel subdermally at Week 12;Efficacy of Enbrel subdermally at Week 24;Efficacy of Enbrel subdermally at Week 36;PASI 75 n(%) subcutaneously at Week 12;PASI 75 n(%) subcutaneously at Week 24;PASI 75 n(%) subcutaneously at Week 36;PASI 75 n(%) subdermally at Week 12;PASI 75 n(%) subdermally at Week 24;PASI 75 n(%) subdermally at Week 36;Adverse Reactions of Enbrel subcutaneously;Adverse Reactions of Enbrel subdermally at Week 36;Gadolinium;Gadolinium;Gadolinium
17 Study of a Single Administration of 3 Doses of Dysport® for the Treatment of Benign Essential Blepharospasm Completed NCT00234507 Phase 2 Botulinum toxin type A (Dysport®)
18 A Study of Acetyl Hexapeptide-8 (AH8) in Treatment of Blepharospasm Completed NCT00942851 Phase 1, Phase 2 Acetyl-Hexapeptide Topical Treatment;placebo
19 Brain Stimulation to Treat Blepharospasm or Meige Syndrome Completed NCT00411255 Phase 2
20 Mexiletine for the Treatment of Focal Dystonia Completed NCT00001784 Phase 2 Mexiletine
21 Deep Brain Stimulation in Patients With Dystonia Completed NCT00773604 Phase 1, Phase 2
22 Acetyl Hexapeptide-8 for Blepharospasm Terminated NCT01750346 Phase 2 Topical acetyl hexapeptide-8;Placebo
23 Blepharospasm Short Interval Terminated NCT00507637 Phase 2 NT 201
24 Comparison of Different Botulinum Toxin A Injection Patterns in the Treatment of Blepharospasm Unknown status NCT02327728 Botulinum toxin A 12.5U;Botulinum toxin A 10U
25 Influence of Gaze Shift and Emotions on Symptoms of Blepharospasm Unknown status NCT01759745
26 Testing the Effect of Zinc Supplementation to Improve the Treatment Effect of Botulinum Toxin for Oculofacial Spasm Unknown status NCT01546805 Zinc Supplement;Sugar pill
27 A Mechanical Device for Blepharospasm Completed NCT03269123
28 Blepharospasm Patient Survey for Patients With Blepharospasm Completed NCT01686061
29 Trial Evaluating Xeomin® (incobotulinumtoxinA) for Cervical Dystonia or Blepharospasm in the United States Completed NCT01287247
30 rTMS and Botulinum Toxin in Benign Essential Blepharospasm Completed NCT02370875
31 Brain Changes in Blepharospasm Completed NCT00500799
32 A Retrospective Chart Review of BOTOX® and Xeomin® for the Treatment of Cervical Dystonia and Blepharospasm Completed NCT01814774
33 Movement Disorder Survey in East China Completed NCT01168388
34 MDs on Botox Utility (MOBILITY) Completed NCT00535938
35 Botulinum Toxin in the Treatment of Raynaud's Completed NCT01233999 botulinum toxin A
36 Cognitive Function and Emotional Possessing in Bilateral Facial Palsy Completed NCT02179450
37 Neurophysiological Markers in Patients With Craniofacial Dystonia and Their Relatives Completed NCT00082615
38 Blepharospasm Tools Recruiting NCT02780336
39 Photic Blink Reflex in People With Blepharospasm and Increased Blinking Recruiting NCT03263000
40 Effect of Lipid Based Eye Drops on Tear Film Lipid Layer Thickness Recruiting NCT03399292 Cationorm MD sine eye drops
41 The Dystonia Coalition Natural History and Biospecimen Repository for Isolated Dystonias Recruiting NCT01373424
42 Botulinum Toxin A Versus Steroids for the Treatment of Chronic Plantar Fasciitis Recruiting NCT02196155 Botulinum toxin A;cortisone;Saline
43 An RCT of a Patient-initiated Treatment Service for BEB and HFS Active, not recruiting NCT02577224
44 Two Different Surgical Methods of Blepharospasm Not yet recruiting NCT02765113 Early Phase 1
45 HLA Screening in Reducing the Risk of Antiepileptic Drug-induced Cutaneous Adverse Reactions Not yet recruiting NCT03184597
46 Brain Changes in Blepharospasm Terminated NCT00487383

Search NIH Clinical Center for Blepharospasm

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: blepharospasm

Genetic Tests for Blepharospasm

Genetic tests related to Blepharospasm:

# Genetic test Affiliating Genes
1 Blepharospasm 28 DRD5

Anatomical Context for Blepharospasm

MalaCards organs/tissues related to Blepharospasm:

38
Eye, Brain, Testes, Thalamus, Caudate Nucleus, Globus Pallidus, Parietal Lobe

Publications for Blepharospasm

Articles related to Blepharospasm:

(show top 50) (show all 597)
# Title Authors Year
1
Oral Pharmacotherapy for Benign Essential Blepharospasm. ( 29239876 )
2018
2
The History of Blepharospasm in Medicine. ( 29239873 )
2018
3
The Benign Essential Blepharospasm Research Foundation. ( 29239875 )
2018
4
Blepharospasm and Hemifacial Spasm. ( 29239872 )
2018
5
Spinocerebellar Ataxia Type 31 with Blepharospasm. ( 29434122 )
2018
6
Long-term Efficacy of Botulinum Neurotoxin-A Treatment for Essential Blepharospasm. ( 29376224 )
2018
7
Benign Essential Blepharospasm: What We Know and What We Don't. ( 29239874 )
2018
8
The Facial Nerve and Selective Neurectomy for Treatment of Benign Essential Blepharospasm. ( 29239881 )
2018
9
Surgical Myectomy for Essential Blepharospasm and Hemifacial Spasm. ( 29239878 )
2018
10
Secondary Blepharospasm Associated With Ocular Surface Disease. ( 29239879 )
2018
11
Botulinum Toxins for Treating Essential Blepharospasm and Hemifacial Spasm. ( 29239877 )
2018
12
Resting state fMRI observations of baseline brain functional activities and connectivities in primary blepharospasm. ( 28893588 )
2017
13
Depression in blepharospasm: a question of facial feedback? ( 28761348 )
2017
14
INCREASED BLINKING MAY BE A PRECURSOR OF BLEPHAROSPASM: A LONGITUDINAL STUDY. ( 29082270 )
2017
15
Nonmotor symptoms in primary adult-onset cervical dystonia and blepharospasm. ( 28239516 )
2017
16
Correction: Grey Matter Microstructural Integrity Alterations in Blepharospasm Are Partially Reversed by Botulinum Neurotoxin Therapy. ( 28192485 )
2017
17
Surgical approach to limiting skin contracture following protractor myectomy for essential blepharospasm. ( 29403334 )
2017
18
Multiple Neural Networks Malfunction in Primary Blepharospasm: An Independent Components Analysis. ( 28539879 )
2017
19
An Aesthetic Orbicularis Oculi Myectomy Technique for Blepharospasm: Use of Topical 5-Fluorouracil and Fibrin Sealant. ( 28863116 )
2017
20
Treatment satisfaction with botulinum toxin: a comparison between blepharospasm and cervical dystonia. ( 29066869 )
2017
21
A comparative crossover study on the treatment of hemifacial spasm and blepharospasm: preseptal and pretarsal botulinum toxin injection techniques. ( 28884242 )
2017
22
Treatment of Blepharospasm/Hemifacial Spasm. ( 28965229 )
2017
23
Blepharospasm 40 years later. ( 28186662 )
2017
24
Intractable Blepharospasm Treated with Bilateral Pallidal Deep Brain Stimulation. ( 28975046 )
2017
25
Blepharospasm as a masquerade of glaucomatous visual field defects. ( 28576231 )
2017
26
Comparison of Safety and Efficacy of Botox and Neuronox in the Management of Benign Essential Blepharospasm: A Split-face Study. ( 29022290 )
2017
27
Unilateral pallidotomy for blepharospasm refractory to botulinum toxin injections. ( 28643956 )
2017
28
Sensory tricks in primary blepharospasm and idiopathic cervical dystonia. ( 28488615 )
2017
29
Treatment of blepharospasm with apraclonidine. ( 28017248 )
2017
30
Cluster Headache Associated with Secondary Unilateral Blepharospasm: A Case Report and Review of the Literature. ( 28540017 )
2017
31
(123)I-FP-CIT SPECT imaging in blepharospasm. ( 28629634 )
2017
32
Clinical heterogeneity in patients with idiopathic blepharospasm: A cluster analysis. ( 28476326 )
2017
33
A Dynamic Circuit Hypothesis for the Pathogenesis of Blepharospasm. ( 28326032 )
2017
34
Medical Cannabis, a Beneficial High in Treatment of Blepharospasm? An Early Observation. ( 29339959 )
2017
35
Management of Essential Blepharospasm. ( 28680527 )
2017
36
Role of GABAergic System in Blepharospasm: Response. ( 27533532 )
2016
37
Prefrontal Hemodynamic Functions during a Verbal Fluency Task in Blepharospasm Using Multi-Channel NIRS. ( 26942579 )
2016
38
Blepharospasm: an uncommon adverse effect caused by long-term administration of olanzapine. ( 27658142 )
2016
39
Kikuchi-Fujimoto disease presenting as brainstem encephalitis with secondary blepharospasm. ( 26933369 )
2016
40
Screening for Cognitive Impairments in Primary Blepharospasm. ( 27526026 )
2016
41
Pallidal stimulation for medically intractable blepharospasm. ( 27033410 )
2016
42
In vivo confocal microscopy of meibomian glands in primary blepharospasm: A prospective case-control study in a Chinese population. ( 27281086 )
2016
43
A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motorA tics. ( 27919237 )
2016
44
Blepharospasm in a multiplex African-American pedigree. ( 26944167 )
2016
45
Blepharospasm: Update on Epidemiology, Clinical Aspects, and Pathophysiology. ( 27064462 )
2016
46
Orbicularis Oculi Myectomy as a Treatment for Blepharospasm in a Case of Schwartz Jampel Syndrome. ( 27621795 )
2016
47
Botulinum Toxin Treatment of Blepharospasm, Orofacial/Oromandibular Dystonia, and Hemifacial Spasm. ( 26866500 )
2016
48
Role of GABAergic System in Blepharospasm. ( 27533531 )
2016
49
Five-Year Retrospective Review of Cases with Benign Essential Blepharospasm and Hemifacial Spasm Presenting in a Tertiary Eye Care Center in North India. ( 27078720 )
2016
50
Frontalis suspension surgery to treat patients with blepharospasm and eyelid opening apraxia: long-term results. ( 27816991 )
2016

Variations for Blepharospasm

ClinVar genetic disease variations for Blepharospasm:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DRD5 DRD5, (CT/GT/GA)n undetermined variant Pathogenic

Expression for Blepharospasm

Search GEO for disease gene expression data for Blepharospasm.

Pathways for Blepharospasm

GO Terms for Blepharospasm

Biological processes related to Blepharospasm according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0007189 9.32 DRD5 GNAL
2 activation of adenylate cyclase activity GO:0007190 9.26 DRD5 GNAL
3 negative regulation of blood pressure GO:0045776 9.16 DRD5 GCH1
4 adenylate cyclase-activating dopamine receptor signaling pathway GO:0007191 8.96 DRD5 GNAL
5 chaperone-mediated protein transport GO:0072321 8.62 TIMM8A TOR1A

Sources for Blepharospasm

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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