BEB
MCID: BLP048
MIFTS: 36

Blepharospasm, Benign Essential (BEB)

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

Aliases & Classifications for Blepharospasm, Benign Essential

MalaCards integrated aliases for Blepharospasm, Benign Essential:

Name: Blepharospasm, Benign Essential 57
Benign Essential Blepharospasm 20 43 53 72 70
Blepharospasm, Primary Benign 57 13
Primary Blepharospasm 20 43
Blepharospasm 20 70
Beb 20 72
Blepharospasm, Benign Essential, Susceptibility to 57
Obsolete: Benign Essential Blepharospasm 20
Essential Blepharospasm 43
Eyelid Twitching 43
Spasm of Eyelids 43
Eyelid Spasm 6

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
mean age of onset 56 years


HPO:

31
blepharospasm, benign essential:
Inheritance autosomal dominant inheritance sporadic
Onset and clinical course middle age onset


Classifications:



External Ids:

OMIM® 57 606798
MeSH 44 D001764
SNOMED-CT via HPO 68 263681008 59026006
UMLS 70 C0005747 C2930898

Summaries for Blepharospasm, Benign Essential

MedlinePlus Genetics : 43 Benign essential blepharospasm is a condition characterized by abnormal blinking or spasms of the eyelids. This condition is a type of dystonia, which is a group of movement disorders involving uncontrolled tensing of the muscles (muscle contractions), rhythmic shaking (tremors), and other involuntary movements. Benign essential blepharospasm is different from the common, temporary eyelid twitching that can be caused by fatigue, stress, or caffeine.The signs and symptoms of benign essential blepharospasm usually appear in mid- to late adulthood and gradually worsen. The first symptoms of the condition include an increased frequency of blinking, dry eyes, and eye irritation that is aggravated by wind, air pollution, sunlight, and other irritants. These symptoms may begin in one eye, but they ultimately affect both eyes. As the condition progresses, spasms of the muscles surrounding the eyes cause involuntary winking or squinting. Affected individuals have increasing difficulty keeping their eyes open, which can lead to severe vision impairment.In more than half of all people with benign essential blepharospasm, the symptoms of dystonia spread beyond the eyes to affect other facial muscles and muscles in other areas of the body. When people with benign essential blepharospasm also experience involuntary muscle spasms affecting the tongue and jaw (oromandibular dystonia), the combination of signs and symptoms is known as Meige syndrome.

MalaCards based summary : Blepharospasm, Benign Essential, also known as benign essential blepharospasm, is related to blepharospasm and lymphatic malformation 5, and has symptoms including myoclonus, torticollis and oromandibular dystonia. An important gene associated with Blepharospasm, Benign Essential is DRD5 (Dopamine Receptor D5). The drugs Acetylcholine and abobotulinumtoxinA have been mentioned in the context of this disorder. Affiliated tissues include eye, tongue and cortex, and related phenotype is blepharospasm.

GARD : 20 Benign essential blepharospasm (BEB) is a progressive neurological disorder characterized by abnormal blinking or spasms of the eyelids. It is a form of dystonia, a group of movement disorders involving uncontrolled tensing of the muscles (contractions), rhythmic shaking (tremors), and other involuntary movements. BEB occurs in both men and women, although it is especially common in middle-aged women. Initial symptoms include an increased frequency of blinking, dry eyes, and eye irritation. As the condition progresses, spasms of the muscles surrounding the eyes cause involuntary winking or squinting and increasing difficulty keeping eyes open, which can lead to vision impairment. In more than half of all people with BEB, the symptoms affect other facial muscles and muscles in other areas of the body. When people with BEB also experience involuntary muscle spasms affecting the tongue and jaw, this is known as Meige syndrome. The cause of BEB is unknown; however, some cases appear to run through families. Although there is no cure for BEB, symptoms can be treated using various methods including botulinum toxin injections.

OMIM® : 57 Blepharospasm is a form of primary focal dystonia affecting the orbicularis oculi muscles, usually beginning in middle age. Initial symptoms include eye irritation and frequent blinking, progressing to involuntary spasms of eyelid closure. In severe cases, this can lead to functional blindness (summary by Misbahuddin et al., 2002). (606798) (Updated 20-May-2021)

NINDS : 53 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.

UniProtKB/Swiss-Prot : 72 Benign essential blepharospasm: A primary focal dystonia affecting the orbicularis oculi muscles. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. BEB usually begins in middle age. Initial symptoms include eye irritation and frequent blinking, progressing to involuntary spasms of eyelid closure. Patients have normal eyes. The visual disturbance is due solely to the forced closure of the eyelids. In severe cases, this can lead to functional blindness.

Related Diseases for Blepharospasm, Benign Essential

Diseases in the Blepharospasm family:

Blepharospasm, Benign Essential

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

(show top 50) (show all 200)
# Related Disease Score Top Affiliating Genes
1 blepharospasm 11.8
2 lymphatic malformation 5 11.6
3 schwartz-jampel syndrome, type 1 10.9
4 aceruloplasminemia 10.9
5 spinocerebellar ataxia 31 10.9
6 dystonia 10.9
7 corneal dystrophy, meesmann, 1 10.9
8 glaucoma 3, primary congenital, a 10.9
9 dystonia 3, torsion, x-linked 10.9
10 dyt-thap1 10.9
11 vernal keratoconjunctivitis 10.9
12 hemifacial spasm, familial 10.8
13 hemifacial spasm 10.8
14 ptosis 10.7
15 focal dystonia 10.7
16 cervical dystonia 10.6
17 movement disease 10.5
18 apraxia 10.5
19 oromandibular dystonia 10.5
20 apraxia of eyelid opening 10.4
21 torticollis 10.4
22 ifap syndrome 2 10.4
23 yemenite deaf-blind hypopigmentation syndrome 10.3
24 parkinsonism 10.3
25 tremor 10.3
26 strabismus 10.2
27 mechanical strabismus 10.2
28 supranuclear palsy, progressive, 1 10.2
29 bell's palsy 10.2
30 seizures, benign familial neonatal, 1 10.1
31 myasthenia gravis 10.1
32 lagophthalmos 10.1
33 eye disease 10.1
34 facial paralysis 10.1
35 headache 10.1
36 keratitis, hereditary 10.1
37 migraine with or without aura 1 10.1
38 tardive dyskinesia 10.1
39 ataxia and polyneuropathy, adult-onset 10.1
40 ectropion 10.1
41 myoclonus 10.1
42 facial spasm 10.0
43 multiple system atrophy 1 10.0
44 obsessive-compulsive disorder 10.0
45 dry eye syndrome 10.0
46 tic disorder 10.0
47 epilepsy, idiopathic generalized 10.0
48 seizure disorder 10.0
49 dystonia 1, torsion, autosomal dominant 10.0
50 parkinson disease, late-onset 10.0

Graphical network of the top 20 diseases related to Blepharospasm, Benign Essential:



Diseases related to Blepharospasm, Benign Essential

Symptoms & Phenotypes for Blepharospasm, Benign Essential

Human phenotypes related to Blepharospasm, Benign Essential:

31
# Description HPO Frequency HPO Source Accession
1 blepharospasm 31 HP:0000643

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
eye irritation
frequent blinking
involuntary spasms of eyelid closure (blepharospasm)

Neurologic Central Nervous System:
dystonia, focal, limited to orbicularis oculi muscle (blepharospasm)

Clinical features from OMIM®:

606798 (Updated 20-May-2021)

UMLS symptoms related to Blepharospasm, Benign Essential:


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

Drugs & Therapeutics for Blepharospasm, Benign Essential

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

(show all 27)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 3 51-84-3 187
2 abobotulinumtoxinA Phase 3
3 Cholinergic Agents Phase 3
4 Botulinum Toxins, Type A Phase 3
5 Neurotransmitter Agents Phase 3
6 Botulinum Toxins Phase 3
7 incobotulinumtoxinA Phase 3
8 Pharmaceutical Solutions Phase 2, Phase 3
9 Epidiolex Phase 2, Phase 3
10 Anticonvulsants Phase 2, Phase 3
11
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178
12 Anti-Arrhythmia Agents Phase 2
13 Sodium Channel Blockers Phase 2
14 Diuretics, Potassium Sparing Phase 2
15
Zinc Approved, Investigational 7440-66-6 32051
16
Methylprednisolone Approved, Vet_approved 83-43-2 6741
17
Prednisolone Approved, Vet_approved 50-24-8 5755
18
Prednisolone acetate Approved, Vet_approved 52-21-1
19
Methylprednisolone hemisuccinate Approved 2921-57-5
20
Prednisolone phosphate Approved, Vet_approved 302-25-0
21
Carbamazepine Approved, Investigational 298-46-4 2554
22
Prednisolone hemisuccinate Experimental 2920-86-7
23
Cortisone Experimental 53-06-5 222786
24 Zinc Supplement
25 Methylprednisolone Acetate
26 Anti-Inflammatory Agents
27 Ophthalmic Solutions

Interventional clinical trials:

(show all 42)
# Name Status NCT ID Phase Drugs
1 Pretarsal Versus Preseptal Botulinum Toxin for Patients With Eyelid Spasm: a Randomized, Triple-blind, Placebo-controlled, Cross-over Clinical Trial Completed NCT03508882 Phase 4 Botulinum Toxin Type A 100Unit/Vial (Product);Saline Solution for Injection
2 Multi-center, Single Arm, Open-label, Phase IV Clinical Trial to Evaluate the Efficacy and Safety of Botulax® in Patients With Essential Blepharospasm Completed NCT03641950 Phase 4 Botulinum toxin type A
3 Multi-center, Phase Ⅳ, Single Arm, Open-label Clinical Trial to Evaluate the Efficacy and Safety of Meditoxin® in Subjects With Essential Blepharospasm Completed NCT01259557 Phase 4 Botulinum Toxin Type A
4 Comparison of Two Botulinum Type A Products in the Treatment of Blepharospasm Completed NCT00761592 Phase 4
5 Comparison of Temporomandibular Joint Arthroscopy With Botulinum Toxin Injection Versus Placebo: a Randomized Clinical Trial Recruiting NCT04810429 Phase 4 Incobotulinumoxin A
6 Double-blinded, Randomized, Active Control Comparative, Parallel-designed, Phase III Clinical Trial: Therapeutic Confirmatory Clinical Trial to Evaluate the Safety and Efficacy of "Hugeltox Inj." In Essential Blepharospasm Running Parallel With Phase I Study Completed NCT01791881 Phase 3 Hugeltox;Botulinum Toxin Type A(Botox®)
7 A Multicenter, Double-blind, Randomized, Parallel, Active-controlled, Phase III Study to Evaluate the Efficacy and Safety of NEURONOX® vs. BOTOX® in Patients With Essential Blepharospasm Completed NCT03216473 Phase 3 Neuronox;Botox
8 Double-Blind, Randomized, Phase 3, Comparative Study of a New 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 A Randomized, Double Blind, Multi-center, Active Drug Controlled, Phase II/III Clinical Trial to Compare the Safety and Efficacy of NABOTA Versus BOTOX in Treatment of Essential Blepharospasm Completed NCT02947815 Phase 2, Phase 3 Clostridium Botulinum Toxin Type A;Clostridium Botulinum Toxin Type A
10 Prospective, Double-blind, Placebo-controlled, Randomized, Parallel-group, Multi-center Study With an Open-label Extension Period to Investigate the Efficacy and Safety of Two Different Doses of NT 201 in Botulinum Toxin Treatment-naïve Subjects With Blepharospasm Completed NCT01896895 Phase 3 IncobulinumtoxinA (Xeomin), 25 Units;IncobotulinumtoxinA (Xeomin), 12.5 Units;Placebo;IncobotulinumtoxinA (Xeomin), 35 Units
11 Prospective, Double-blind, Placebo-controlled, Randomized, Multi-center Trial With an Open-label Extension Period to Investigate the Efficacy and Safety of incobotulinumtoxinA (Xeomin) in the Treatment of Blepharospasm Completed NCT00406367 Phase 3 incobotulinumtoxinA (Xeomin);Placebo
12 Effect of Non-psychoactive Cannabidiol as an Adjunct to Botulinum Toxin in Blepharospasm - a Prospective Double-masked Cross-over Study Enrolling by invitation NCT04423341 Phase 2, Phase 3 Cannabidiol Oral Solution [Epidiolex]
13 Phase II, Multi-centre, Randomised, Double-blind, Parallel Group, Placebo-controlled Study to Assess the Efficacy and Safety of a Single Administration, by Subcutaneous Injection, of Three Doses of Dysport (40 Units/Eye, 80 Units/Eye, and 120 Units/Eye) for the Treatment of Benign Essential Blepharospasm Completed NCT00234507 Phase 2
14 Mexiletine for the Treatment of Focal Dystonia Completed NCT00001784 Phase 2 Mexiletine
15 Blepharospasm and the Experimental Modulation of Cortical Excitability in Primary and Secondary Motor Areas. A Pilot Study. Completed NCT00411255 Phase 2
16 A Study of Acetyl Hexapeptide-8 (AH8) in Treatment of Blepharospasm Completed NCT00942851 Phase 1, Phase 2 Acetyl-Hexapeptide Topical Treatment;placebo
17 Prospective, Open-label, Single-arm, Single-center Trial to Investigate the Tolerability of NT 201 and Quality of Life of Patients in the Treatment of Blepharospasm With Shortened Injection Intervals Terminated NCT00507637 Phase 2 NT 201
18 Placebo Controlled Double Blind Study of Acetyl Hexapeptide-8 in Treatment of Blepharospasm Terminated NCT01750346 Phase 2 Topical acetyl hexapeptide-8;Placebo
19 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
20 The Effect of Zinc Supplementation on the Efficacy and Duration of Botulinum Toxin for the Treatment of Oculofacial Spasm Disorders Unknown status NCT01546805 Zinc Supplement;Sugar pill
21 A Randomised Controlled Trial to Explore the Effectiveness and Cost-effectiveness of a Patient-initiated Botulinum Toxin Treatment Model for Blepharospasm and Hemifacial Spasm Compared to Treatment as Usual Unknown status NCT02577224
22 Effect of Two Different Surgical Methods on the Prognosis of Patients With Blepharospasm Unknown status NCT02765113 Early Phase 1
23 Subthalamic Nucleus (STN) Deep Brain Stimulation (DBS) in Patients With Dystonia Completed NCT00773604
24 Combined Effects of rTMS and Botulinum Toxin in Benign Essential Blepharospasm: A Novel Approach Completed NCT02370875
25 Blepharospasm Patient Survey: A Structured Interview Evaluating Previous and Current incobotulinumtoxinA, abobotulinumtoxinA and onabotulinumtoxinA Treatment for Patients With Blepharospasm Completed NCT01686061
26 Role of the Cortical Medial Frontal Areas in Blepharospasm Completed NCT00500799
27 MDs on Botox Utility (MOBILITY) Completed NCT00535938
28 Diagnostic and Rating Tools for Blepharospasm Completed NCT02780336
29 A Post Marketing Surveillance Study of Dysport Formulated With a Batch of Bulk Active Substance From a New Primary Manufacturing Facility at the Centre for Applied Microbiology & Research (CAMR) Completed NCT00210431
30 Clinical Trial of a Mechanical Device for the Treatment of Blepharospasm Completed NCT03269123
31 Prospective, Observational Trial Evaluating Xeomin®(incobotulinumtoxinA) for Cervical Dystonia or Blepharospasm in the United States Completed NCT01287247
32 A Retrospective Chart Review of BOTOX® and Xeomin® for the Management of Cervical Dystonia and Blepharospasm Completed NCT02245958
33 A Retrospective Chart Review of BOTOX® and Xeomin® for the Treatment of Cervical Dystonia and Blepharospasm Completed NCT01814774
34 Analyse de la Marche de Patients Atteints de Dystonie Focale Avant et après Traitement Par Toxine Botulique Recruiting NCT03938363 Botulinum Toxin injection
35 The Role of the Upper Colliculus in the Idiopathic Blepharospasm : a Pilot Study in Functional MRI Recruiting NCT03903341
36 Botulinum Toxin A Versus Steroids for the Treatment of Chronic Plantar Fasciitis: a Randomized Controlled Study Recruiting NCT02196155 Botulinum toxin A;cortisone;Saline
37 Effect of Lipid Based Eye Drops on Tear Film Lipid Layer Thickness in Subjects With Dry Eye Disease, Meibomian Gland Dysfunction, Blepharospasm and Healthy Subjects - a Pilot Study Recruiting NCT03399292 Cationorm MD sine eye drops
38 HLA Screening in Reducing the Risk of Antiepileptic Drug-induced Cutaneous Adverse Reactions: a Multicenter Clinical Study Recruiting NCT03184597
39 A Comparative Study of GPI's DBS and Pallidotomy in the Treatment of Meige Syndrome Active, not recruiting NCT04618887
40 Study of the Photic Blink Reflex in Patients With Blepharospasm and Increased Blinking Terminated NCT03263000
41 Suppression and Facilitation of the Motor Cortex by Stimulation of the Cerebellum in Patients With Dystonia and Healthy Controls Terminated NCT00487383
42 The Influence of Gaze Shift and Emotions on Symptoms of Blepharospasm- a Pilot Study. Withdrawn NCT01759745

Search NIH Clinical Center for Blepharospasm, Benign Essential

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Botulinum Toxin Type A
Cyproheptadine
Cyproheptadine hydrochloride
CYPROHEPTADINE HYDROCHLORIDE MONOHYDRATE

Genetic Tests for Blepharospasm, Benign Essential

Anatomical Context for Blepharospasm, Benign Essential

MalaCards organs/tissues related to Blepharospasm, Benign Essential:

40
Eye, Tongue, Cortex, Cerebellum, Endothelial, Subthalamic Nucleus, Brain

Publications for Blepharospasm, Benign Essential

Articles related to Blepharospasm, Benign Essential:

(show top 50) (show all 162)
# Title Authors PMID Year
1
Animal model explains the origins of the cranial dystonia benign essential blepharospasm. 61 57
9163399 1997
2
Environmental risk factors and clinical phenotype in familial and sporadic primary blepharospasm. 57
21775731 2011
3
Candidate gene studies in focal dystonia. 57
14581671 2003
4
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia. 6
12700316 2003
5
A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm. 57
11781417 2002
6
Cloning of the human dopamine D5 receptor gene and identification of a highly polymorphic microsatellite for the DRD5 locus that shows tight linkage to the chromosome 4p reference marker RAF1P1. 6
8288248 1993
7
Which factors impact on quality of life for adults with blepharospasm and hemifacial spasm? 61
32116098 2021
8
Disabling muscle of Riolan: A novel concept of orbicularis oculi myectomy for refractory benign essential blepharospasm. 61
33579161 2021
9
Botulinum toxin for benign essential blepharospasm: A systematic review and an algorithmic approach. 61
32654779 2021
10
Impact of Upper Eyelid Surgery on Symptom Severity and Frequency in Benign Essential Blepharospasm. 61
33423436 2021
11
Antibody Development in Patients Treated Long-Term With OnabotulinumtoxinA for Benign Essential Blepharospasm and Hemifacial Spasm. 61
33470741 2021
12
Eye pain in the white and quiet eye. 61
33009080 2020
13
[Blepharospasm, dry eye and extractable nuclear antigen antibodies (French translation of the article)]. 61
32896450 2020
14
Blepharospasm, dry eye and extractable nuclear antigen antibodies. 61
32532571 2020
15
Eye pain in the white and quiet eye. 61
32897919 2020
16
Serum calcium, magnesium, phosphorus, and vitamin D in benign essential blepharospasm. 61
32236706 2020
17
The good toxin: 10 years of experience with botulinum toxin A in the treatment of benign essential blepharospasm. 61
32544987 2020
18
Sex, blinking, and dry eye. 61
31940243 2020
19
Myotomy In Situ for Essential Blepharospasm Refractory to Botulinum Toxin. 61
31833891 2020
20
Characteristics of tear abnormalities associated with benign essential blepharospasm and amelioration by means of botulinum toxin type A treatment. 61
31823132 2020
21
Quality of life in idiopathic dystonia: a systematic review. 61
30460447 2019
22
Dry eye syndrome in benign essential blepharospasm. 61
31733914 2019
23
Comparison of Safety and Efficacy of Botox and Neuronox in the Management of Benign Essential Blepharospasm: A Split-face Study. 61
31612653 2019
24
[Therapy of Benign Essential Blepharospasm with Botulinum Toxin]. 61
30970386 2019
25
Effects of Repeated Eyelid Injections with Botulinum Toxin A on Innervation of Treated Muscles in Patients with Blepharospasm. 61
30380945 2019
26
Long-term outcome of flexible onabotulinum toxin A treatment in facial dystonia. 61
30202071 2019
27
Botulinum toxin relieves anxiety and depression in patients with hemifacial spasm and blepharospasm. 61
30587995 2019
28
Screening Gene Mutations in Chinese Patients With Benign Essential Blepharospasm. 61
32038460 2019
29
Increased pupillary constriction velocity in benign essential blepharospasm associated with photophobia. 61
31163059 2019
30
Sensory Trick Frames: A New Device for Blepharospasm Patients. 61
30642155 2019
31
Clinical Features of Benign Essential Blepharospasm in Korean Patients. 61
30311455 2018
32
Developments in the treatment of benign essential blepharospasm. 61
29916840 2018
33
Botulinum toxin injection and tear production. 61
29994851 2018
34
Chemodenervation for the Treatment of Facial Dystonia: A Report by the American Academy of Ophthalmology. 61
29653859 2018
35
Effect of Botulinum Toxin A Treatment on Eyelid Pressure in Eyes with Blepharospasm. 61
29641935 2018
36
Combined effects of rTMS and botulinum toxin therapy in benign essential blepharospasm. 61
29530449 2018
37
Increase lipid tear thickness after botulinum neurotoxin A injection in patients with blepharospasm and hemifacial spasm. 61
29849166 2018
38
Injecting botulinum toxin into the treatment of blepharospasm. 61
30206561 2018
39
The Benign Essential Blepharospasm Research Foundation. 61
29239875 2018
40
Oral Pharmacotherapy for Benign Essential Blepharospasm. 61
29239876 2018
41
The Facial Nerve and Selective Neurectomy for Treatment of Benign Essential Blepharospasm. 61
29239881 2018
42
Benign Essential Blepharospasm: What We Know and What We Don't. 61
29239874 2018
43
Epidemiology of benign essential blepharospasm: A nationwide population-based retrospective study in Taiwan. 61
30586395 2018
44
A comparative crossover study on the treatment of hemifacial spasm and blepharospasm: preseptal and pretarsal botulinum toxin injection techniques. 61
28884242 2017
45
Medical Cannabis, a Beneficial High in Treatment of Blepharospasm? An Early Observation. 61
29339959 2017
46
Surgical approach to limiting skin contracture following protractor myectomy for essential blepharospasm. 61
29403334 2017
47
A Dynamic Circuit Hypothesis for the Pathogenesis of Blepharospasm. 61
28326032 2017
48
Transcranial direct current stimulation for patients with benign essential blepharospasm: a case report. 61
27672032 2017
49
Five-Year Retrospective Review of Cases with Benign Essential Blepharospasm and Hemifacial Spasm Presenting in a Tertiary Eye Care Center in North India. 61
27078720 2017
50
Use of Alleviating Maneuvers for Periocular Facial Dystonias. 61
27606483 2016

Variations for Blepharospasm, Benign Essential

ClinVar genetic disease variations for Blepharospasm, Benign Essential:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DRD5 DRD5, (CT/GT/GA)n Variation risk factor 16765 GRCh37:
GRCh38:

Expression for Blepharospasm, Benign Essential

Search GEO for disease gene expression data for Blepharospasm, Benign Essential.

Pathways for Blepharospasm, Benign Essential

GO Terms for Blepharospasm, Benign Essential

Sources for Blepharospasm, Benign Essential

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11 DGIdb
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32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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53 NINDS
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56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
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