MCID: BLP003
MIFTS: 44

Blepharospasm

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

Aliases & Classifications for Blepharospasm

MalaCards integrated aliases for Blepharospasm:

Name: Blepharospasm 12 77 55 30 56 6 45 15 41 74

Classifications:



External Ids:

Disease Ontology 12 DOID:529
ICD9CM 36 333.81
MeSH 45 D001764
NCIt 51 C118723
SNOMED-CT 69 59026006
ICD10 34 G24.5
UMLS 74 C0005747

Summaries for Blepharospasm

NINDS : 55 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 dystonia and movement disease, and has symptoms including myoclonus, oromandibular dystonia and torticollis. 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.

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

Wikipedia : 77 Blepharospasm is any abnormal contraction or twitch of the eyelid. The condition should be distinguished... 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 97)
# Related Disease Score Top Affiliating Genes
1 dystonia 29.8 DRD5 GCH1 GNAL THAP1 TIMM8A TOR1A
2 movement disease 29.7 GCH1 TOR1A
3 oromandibular dystonia 29.7 CAMP GCH1 THAP1 TOR1A TSR2
4 cervical dystonia 29.5 CAMP DRD5 GCH1 GNAL THAP1 TOR1A
5 hemidystonia 29.1 CAMP GCH1 THAP1 TOR1A
6 focal dystonia 28.8 CAMP DRD5 GNAL THAP1 TIMM8A TOR1A
7 blepharospasm, benign essential 12.7
8 lymphatic malformation 5 12.2
9 vernal keratoconjunctivitis 11.1
10 x-linked dystonia-parkinsonism/lubag 11.1
11 hemifacial spasm 10.8
12 apraxia 10.4
13 torticollis 10.4
14 apraxia of eyelid opening 10.3
15 strabismus 10.2
16 ptosis 10.2
17 bell's palsy 10.1
18 depression 10.1
19 spasmodic dysphonia 10.1 THAP1 TOR1A
20 dystonia 24 10.1 THAP1 TOR1A
21 schwartz-jampel syndrome, type 1 10.1
22 headache 10.1
23 multifocal dystonia 10.1 CAMP TOR1A
24 myasthenia gravis 10.0
25 supranuclear palsy, progressive, 1 10.0
26 myasthenia gravis congenital 10.0
27 myoclonus 10.0
28 dystonia 3, torsion, x-linked 10.0 GCH1 THAP1
29 thiamine metabolism dysfunction syndrome 2 9.9 GCH1 TOR1A
30 hemifacial spasm, familial 9.9
31 multiple system atrophy 1 9.9
32 schizophrenia 9.9
33 entropion 9.9
34 spasticity 9.9
35 tremor 9.9
36 leukodystrophy, hypomyelinating, 2 9.9 GCH1 TOR1A
37 dystonia, dopa-responsive 9.8 GCH1 THAP1 TOR1A
38 dystonia 1, torsion, autosomal dominant 9.8 CAMP GCH1 TOR1A
39 multiple sclerosis 9.8
40 corneal dystrophy, fuchs endothelial, 1 9.8
41 systemic lupus erythematosus 9.8
42 obsessive-compulsive disorder 9.8
43 parkinson disease, late-onset 9.8
44 cerebrotendinous xanthomatosis 9.8
45 tardive dyskinesia 9.8
46 mohr-tranebjaerg syndrome 9.8
47 xanthomatosis 9.8
48 astigmatism 9.8
49 anxiety 9.8
50 autoimmune disease 1 9.8

Graphical network of the top 20 diseases related to Blepharospasm:



Diseases related to Blepharospasm

Symptoms & Phenotypes for Blepharospasm

UMLS symptoms related to Blepharospasm:


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

Drugs & Therapeutics for Blepharospasm

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

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 4,Phase 2,Phase 3,Not Applicable 51-84-3 187
2
Silicon Approved, Investigational Phase 4 7440-21-3 4082203
3 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Not Applicable
4 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
5 Acetylcholine Release Inhibitors Phase 4,Phase 2,Phase 3,Not Applicable
6 Neuromuscular Agents Phase 4,Phase 2,Phase 3,Not Applicable
7 abobotulinumtoxinA Phase 4,Phase 2,Phase 3,Not Applicable
8 Cholinergic Agents Phase 4,Phase 2,Phase 3,Not Applicable
9 Botulinum Toxins Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
10 Botulinum Toxins, Type A Phase 4,Phase 2,Phase 3,Not Applicable
11 incobotulinumtoxinA Phase 4,Phase 3,Phase 2
12 Pharmaceutical Solutions Phase 4,Phase 3
13 Anti-Arrhythmia Agents Phase 2, Phase 3
14
Etanercept Approved, Investigational Phase 1, Phase 2 185243-69-0
15
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178
16 Autoantibodies Phase 1, Phase 2
17 Immunologic Factors Phase 1, Phase 2
18 Analgesics Phase 1, Phase 2
19 Analgesics, Non-Narcotic Phase 1, Phase 2
20 Anti-Inflammatory Agents Phase 1, Phase 2,Not Applicable
21 Gastrointestinal Agents Phase 1, Phase 2
22 Antirheumatic Agents Phase 1, Phase 2
23 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
24 Immunosuppressive Agents Phase 1, Phase 2
25 Sodium Channel Blockers Phase 2
26 Diuretics, Potassium Sparing Phase 2
27
Zinc Approved, Investigational Not Applicable 7440-66-6 32051
28
Carbamazepine Approved, Investigational Not Applicable 298-46-4 2554
29
Methylprednisolone Approved, Vet_approved Not Applicable 83-43-2 6741
30
Methylprednisolone hemisuccinate Approved Not Applicable 2921-57-5
31
Prednisolone Approved, Vet_approved Not Applicable 50-24-8 5755
32
Prednisolone phosphate Approved, Vet_approved Not Applicable 302-25-0
33
Prednisolone hemisuccinate Experimental Not Applicable 2920-86-7
34
Cortisone Experimental Not Applicable 53-06-5 222786
35 Nutrients Not Applicable
36 Micronutrients Not Applicable
37 Trace Elements Not Applicable
38 Zinc Supplement Not Applicable
39 Ophthalmic Solutions
40 Anticonvulsants Not Applicable
41 Dihydroxyphenylalanine
42 Methylprednisolone Acetate Not Applicable
43 Prednisolone acetate Not Applicable

Interventional clinical trials:

(show top 50) (show all 52)
# Name Status NCT ID Phase Drugs
1 The Objective of This Study is to Evaluate the Efficacy and Safety of Botulax® in Patients With Essential Blepharospasm. Completed NCT03641950 Phase 4 Botulinum toxin type A
2 Comparison of Two Botulinum Type A Products in the Treatment of Blepharospasm Completed NCT00761592 Phase 4
3 Efficacy and Safety Study of Meditoxin® to Treat Essential Blepharospasm Completed NCT01259557 Phase 4 Botulinum Toxin Type A
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 Pretarsal Versus Preseptal Botulinum Toxin for Patients With Eyelid Spasm Active, not recruiting NCT03508882 Phase 4 Botulinum Toxin Type A 100Unit/Vial (Product);Saline Solution for Injection
7 Frontalis Botulinum Toxin Not yet recruiting NCT03186001 Phase 4 Abobotulinum toxin A
8 Safety and Efficacy of NABOTA in Treatment of Essential Blepharospasm Unknown status NCT02947815 Phase 2, Phase 3 Clostridium Botulinum Toxin Type A;Clostridium Botulinum Toxin Type A
9 Evaluation of Botulinum Toxin Injection Efficacy in the Treatment of Head Essential Tremor Unknown status NCT02555982 Phase 3 BOTOX ® 200 Unités;Placebo
10 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
11 Clinical Study to Evaluate the Efficacy and Safety of Neuronox and Botox With Essential Blepharospasm Completed NCT03216473 Phase 3 Neuronox;Botox
12 IncobotulinumtoxinA (Xeomin) Versus Placebo in the Treatment of Blepharospasm Completed NCT00406367 Phase 3 incobotulinumtoxinA (Xeomin);Placebo
13 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®)
14 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
15 Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia Completed NCT02604186 Phase 2, Phase 3
16 Addressing Involuntary Movements in Tardive Dyskinesia Completed NCT02291861 Phase 3 SD-809;Placebo
17 Aim to Reduce Movements in Tardive Dyskinesia Completed NCT02195700 Phase 2, Phase 3 SD-809;Placebo
18 Safety and Efficacy of Propranolol in the Treatment of Tardive Dyskinesia Withdrawn NCT03254186 Phase 2, Phase 3 Propranolol Hydrochloride;Placebo Oral Tablet
19 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
20 A Study of Acetyl Hexapeptide-8 (AH8) in Treatment of Blepharospasm Completed NCT00942851 Phase 1, Phase 2 Acetyl-Hexapeptide Topical Treatment;placebo
21 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®)
22 Brain Stimulation to Treat Blepharospasm or Meige Syndrome Completed NCT00411255 Phase 2
23 Mexiletine for the Treatment of Focal Dystonia Completed NCT00001784 Phase 2 Mexiletine
24 Administration of Expanded Autologous Adult Bone Marrow Mesenchymal Cells in Established Chronic Spinal Cord Injuries Completed NCT02570932 Phase 2
25 Acetyl Hexapeptide-8 for Blepharospasm Terminated NCT01750346 Phase 2 Topical acetyl hexapeptide-8;Placebo
26 Blepharospasm Short Interval Terminated NCT00507637 Phase 2 NT 201
27 Two Different Surgical Methods of Blepharospasm Unknown status NCT02765113 Early Phase 1
28 Comparison of Different Botulinum Toxin A Injection Patterns in the Treatment of Blepharospasm Unknown status NCT02327728 Not Applicable Botulinum toxin A 12.5U;Botulinum toxin A 10U
29 Influence of Gaze Shift and Emotions on Symptoms of Blepharospasm Unknown status NCT01759745
30 An RCT of a Patient-initiated Treatment Service for BEB and HFS Unknown status NCT02577224 Not Applicable
31 Testing the Effect of Zinc Supplementation to Improve the Treatment Effect of Botulinum Toxin for Oculofacial Spasm Unknown status NCT01546805 Not Applicable Zinc Supplement;Sugar pill
32 A Mechanical Device for Blepharospasm Completed NCT03269123 Not Applicable
33 Blepharospasm Patient Survey for Patients With Blepharospasm Completed NCT01686061
34 Trial Evaluating Xeomin® (incobotulinumtoxinA) for Cervical Dystonia or Blepharospasm in the United States Completed NCT01287247
35 rTMS and Botulinum Toxin in Benign Essential Blepharospasm Completed NCT02370875 Not Applicable
36 Brain Changes in Blepharospasm Completed NCT00500799
37 A Retrospective Chart Review of BOTOX® and Xeomin® for the Treatment of Cervical Dystonia and Blepharospasm Completed NCT01814774
38 A Retrospective Chart Review of BOTOX® and Xeomin® for the Management of Cervical Dystonia and Blepharospasm Completed NCT02245958
39 Movement Disorder Survey in East China Completed NCT01168388
40 MDs on Botox Utility (MOBILITY) Completed NCT00535938
41 Botulinum Toxin in the Treatment of Raynaud's Completed NCT01233999 Not Applicable botulinum toxin A
42 Cognitive Function and Emotional Possessing in Bilateral Facial Palsy Completed NCT02179450
43 Post Marketing Surveillance Study of Dysport Completed NCT00210431
44 Deep Brain Stimulation in Patients With Dystonia Completed NCT00773604 Not Applicable
45 Neurophysiological Markers in Patients With Craniofacial Dystonia and Their Relatives Completed NCT00082615
46 Blepharospasm Tools Recruiting NCT02780336
47 Photic Blink Reflex in People With Blepharospasm and Increased Blinking Recruiting NCT03263000
48 Effect of Lipid Based Eye Drops on Tear Film Lipid Layer Thickness Recruiting NCT03399292 Cationorm MD sine eye drops
49 HLA Screening in Reducing the Risk of Antiepileptic Drug-induced Cutaneous Adverse Reactions Recruiting NCT03184597 Not Applicable
50 The Dystonia Coalition Natural History and Biospecimen Repository for Isolated Dystonias Recruiting NCT01373424

Search NIH Clinical Center for Blepharospasm

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: blepharospasm

Genetic Tests for Blepharospasm

Genetic tests related to Blepharospasm:

# Genetic test Affiliating Genes
1 Blepharospasm 30

Anatomical Context for Blepharospasm

MalaCards organs/tissues related to Blepharospasm:

42
Eye, Brain, Testes, Bone, Spinal Cord, Bone Marrow, Thalamus

Publications for Blepharospasm

Articles related to Blepharospasm:

(show top 50) (show all 707)
# Title Authors Year
1
Botulinum toxin relieves anxiety and depression in patients with hemifacial spasm and blepharospasm. ( 30587995 )
2019
2
Sensory Trick Frames: A New Device for Blepharospasm Patients. ( 30642155 )
2019
3
Blepharospasm as a Manifestation of Peak of Dose Dyskinesia in Parkinson Disease. ( 30649026 )
2019
4
Lack of Association of the rs11655081 ARSG Gene with Blepharospasm. ( 30656493 )
2019
5
Treatment Effects of Botulinum Toxin Injection and Acupuncture on Blepharospasm Assessed by the Change in Lower Eyelid Tension. ( 30724635 )
2019
6
Writing, reading, and speaking in blepharospasm. ( 30783748 )
2019
7
Blepharospasm and Hemifacial Spasm. ( 29239872 )
2018
8
Surgical Myectomy for Essential Blepharospasm and Hemifacial Spasm. ( 29239878 )
2018
9
Long-term Efficacy of Botulinum Neurotoxin-A Treatment for Essential Blepharospasm. ( 29376224 )
2018
10
Combined effects of rTMS and botulinum toxin therapy in benign essential blepharospasm. ( 29530449 )
2018
11
Effect of Botulinum Toxin A Treatment on Eyelid Pressure in Eyes with Blepharospasm. ( 29641935 )
2018
12
Benign Essential Blepharospasm: What We Know and What We Don't. ( 29239874 )
2018
13
The Facial Nerve and Selective Neurectomy for Treatment of Benign Essential Blepharospasm. ( 29239881 )
2018
14
Spinocerebellar Ataxia Type 31 with Blepharospasm. ( 29434122 )
2018
15
Altered functional connectivity in blepharospasm/orofacial dystonia. ( 29568690 )
2018
16
The Benign Essential Blepharospasm Research Foundation. ( 29239875 )
2018
17
Whole-exome sequencing for variant discovery in blepharospasm. ( 29770609 )
2018
18
Botulinum Toxins for Treating Essential Blepharospasm and Hemifacial Spasm. ( 29239877 )
2018
19
Secondary Blepharospasm Associated With Ocular Surface Disease. ( 29239879 )
2018
20
The History of Blepharospasm in Medicine. ( 29239873 )
2018
21
Oral Pharmacotherapy for Benign Essential Blepharospasm. ( 29239876 )
2018
22
Increase lipid tear thickness after botulinum neurotoxin A injection in patients with blepharospasm and hemifacial spasm. ( 29849166 )
2018
23
Developments in the treatment of benign essential blepharospasm. ( 29916840 )
2018
24
Health-related quality of life outcomes from botulinumtoxin treatment in blepharospasm. ( 29990961 )
2018
25
Stroke-induced resolution of primary blepharospasm: evidence for the lenticular nucleus as a control candidate. ( 30049673 )
2018
26
Evaluation of Scheimpflug imaging parameters in blepharospasm and normal eyes. ( 30185154 )
2018
27
Injecting botulinum toxin into the treatment of blepharospasm. ( 30206561 )
2018
28
Blepharospasm with elevated anti-acetylcholine receptor antibody titer. ( 30231125 )
2018
29
Voxel-Mirrored Homotopic Connectivity of Resting-State Functional Magnetic Resonance Imaging in Blepharospasm. ( 30254593 )
2018
30
Protective Effect of Blepharospasm on the Anterior Segment of the Eye. ( 30256021 )
2018
31
Blepharospasm in Japan: A Clinical Observational Study From a Large Referral Hospital in Tokyo. ( 30258472 )
2018
32
Disease progression in blepharospasm: a 5-year longitudinal study. ( 30308706 )
2018
33
Clinical Features of Benign Essential Blepharospasm in Korean Patients. ( 30311455 )
2018
34
Effects of Repeated Eyelid Injections with Botulinum Toxin A on Innervation of Treated Muscles in Patients with Blepharospasm. ( 30380945 )
2018
35
Impact of botulinum toxin injections on quality of life and self-esteem in patients with blepharospasm. ( 30463432 )
2018
36
Sexual dysfunction in cervical dystonia and blepharospasm. ( 30464469 )
2018
37
BDNF rs6265 (Val66Met) Polymorphism as a Risk Factor for Blepharospasm. ( 30519954 )
2018
38
Epidemiology of benign essential blepharospasm: A nationwide population-based retrospective study in Taiwan. ( 30586395 )
2018
39
Treatment satisfaction with botulinum toxin: a comparison between blepharospasm and cervical dystonia. ( 29066869 )
2017
40
Nonmotor symptoms in primary adult-onset cervical dystonia and blepharospasm. ( 28239516 )
2017
41
An Aesthetic Orbicularis Oculi Myectomy Technique for Blepharospasm: Use of Topical 5-Fluorouracil and Fibrin Sealant. ( 28863116 )
2017
42
A comparative crossover study on the treatment of hemifacial spasm and blepharospasm: preseptal and pretarsal botulinum toxin injection techniques. ( 28884242 )
2017
43
Unilateral pallidotomy for blepharospasm refractory to botulinum toxin injections. ( 28643956 )
2017
44
Blepharospasm 40 years later. ( 28186662 )
2017
45
Treatment of blepharospasm with apraclonidine. ( 28017248 )
2017
46
(123)I-FP-CIT SPECT imaging in blepharospasm. ( 28629634 )
2017
47
Intractable Blepharospasm Treated with Bilateral Pallidal Deep Brain Stimulation. ( 28975046 )
2017
48
Management of Essential Blepharospasm. ( 28680527 )
2017
49
Treatment of Blepharospasm/Hemifacial Spasm. ( 28965229 )
2017
50
Depression in blepharospasm: a question of facial feedback? ( 28761348 )
2017

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 risk factor

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 9.16 DRD5 GNAL
2 negative regulation of blood pressure GO:0045776 8.96 DRD5 GCH1
3 chaperone-mediated protein transport GO:0072321 8.62 TIMM8A TOR1A

Sources for Blepharospasm

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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