BEB
MCID: BLP048
MIFTS: 37

Blepharospasm, Benign Essential (BEB)

Categories: Eye diseases, Genetic 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 53 25 54 75 73
Blepharospasm, Primary Benign 57 13
Blepharospasm 53 73
Beb 53 75
Blepharospasm, Benign Essential, Susceptibility to 57
Essential Blepharospasm 25
Primary Blepharospasm 25
Eyelid Twitching 25
Spasm of Eyelids 25

Characteristics:

OMIM:

57
Inheritance:
isolated cases

Miscellaneous:
mean age of onset 56 years


HPO:

32
blepharospasm, benign essential:
Onset and clinical course middle age onset
Inheritance sporadic


Classifications:



External Ids:

OMIM 57 606798
MeSH 44 D001764
SNOMED-CT via HPO 69 59026006

Summaries for Blepharospasm, Benign Essential

NIH Rare Diseases : 53 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. 

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

Genetics Home Reference : 25 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.

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)

NINDS : 54 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 : 75 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 85)
# Related Disease Score Top Affiliating Genes
1 lymphedema, hereditary, ii 12.1
2 vernal keratoconjunctivitis 11.1
3 x-linked dystonia-parkinsonism/lubag 11.1
4 aceruloplasminemia 11.1
5 hemifacial spasm 10.7
6 dystonia 10.7
7 cervical dystonia 10.5
8 oromandibular dystonia 10.4
9 apraxia 10.4
10 torticollis 10.4
11 apraxia of eyelid opening 10.3
12 strabismus 10.2
13 ptosis 10.2
14 blepharospasm 10.1
15 bell's palsy 10.1
16 schwartz-jampel syndrome, type 1 10.1
17 depression 10.1
18 headache 10.1
19 myasthenia gravis 10.0
20 supranuclear palsy, progressive, 1 10.0
21 focal dystonia 10.0
22 movement disease 10.0
23 myasthenia gravis congenital 10.0
24 myoclonus 10.0
25 epilepsy, idiopathic generalized 10.0
26 epilepsy 10.0
27 hemifacial spasm, familial 9.9
28 multiple system atrophy 1 9.9
29 schizophrenia 9.9
30 entropion 9.9
31 spasticity 9.9
32 tremor 9.9
33 autoimmune disease 9.8
34 multiple sclerosis 9.8
35 corneal dystrophy, fuchs endothelial, 1 9.8
36 systemic lupus erythematosus 9.8
37 obsessive-compulsive disorder 9.8
38 cerebrotendinous xanthomatosis 9.8
39 tardive dyskinesia 9.8
40 mohr-tranebjaerg syndrome 9.8
41 xanthomatosis 9.8
42 astigmatism 9.8
43 autoimmune disease 1 9.8
44 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8
45 bardet-biedl syndrome 2 9.8
46 bardet-biedl syndrome 10 9.8
47 bardet-biedl syndrome 11 9.8
48 bardet-biedl syndrome 12 9.8
49 hydrocephalus 9.8
50 keratopathy 9.8

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



Diseases related to Blepharospasm, Benign Essential

Symptoms & Phenotypes for Blepharospasm, Benign Essential

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Blepharospasm, Benign Essential:

32
# Description HPO Frequency HPO Source Accession
1 blepharospasm 32 HP:0000643

UMLS symptoms related to Blepharospasm, Benign Essential:


myoclonus, oromandibular dystonia, torticollis, 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 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 4,Phase 2,Phase 3,Not Applicable 51-84-3 187
2 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Not Applicable
3 Botulinum Toxins Phase 4,Phase 2,Phase 3,Not Applicable
4 Neuromuscular Agents Phase 4,Phase 2,Phase 3,Not Applicable
5 abobotulinumtoxinA Phase 4,Phase 2,Phase 3,Not Applicable
6 onabotulinumtoxinA Phase 4,Phase 2,Phase 3,Not Applicable
7 Botulinum Toxins, Type A Phase 4,Phase 2,Phase 3,Not Applicable
8 Cholinergic Agents Phase 4,Phase 2,Phase 3,Not Applicable
9 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Not Applicable
10 Acetylcholine Release Inhibitors Phase 4,Phase 2,Phase 3,Not Applicable
11 Pharmaceutical Solutions Phase 3
12 incobotulinumtoxinA Phase 3

Interventional clinical trials:

(show all 13)
# 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 Efficacy and Safety Study of Meditoxin® to Treat Essential Blepharospasm Completed NCT01259557 Phase 4 Botulinum Toxin Type A
3 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
4 Clinical Study to Evaluate the Efficacy and Safety of Neuronox and Botox With Essential Blepharospasm Completed NCT03216473 Phase 3 Neuronox;Botox
5 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®)
6 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
7 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
8 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®)
9 Acetyl Hexapeptide-8 for Blepharospasm Terminated NCT01750346 Phase 2 Topical acetyl hexapeptide-8;Placebo
10 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
11 Two Different Surgical Methods of Blepharospasm Unknown status NCT02765113 Early Phase 1
12 rTMS and Botulinum Toxin in Benign Essential Blepharospasm Completed NCT02370875 Not Applicable
13 Blepharospasm Tools Recruiting NCT02780336

Search NIH Clinical Center for Blepharospasm, Benign Essential

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Blepharospasm, Benign Essential

Anatomical Context for Blepharospasm, Benign Essential

MalaCards organs/tissues related to Blepharospasm, Benign Essential:

41
Eye, Tongue, Endothelial, T Cells

Publications for Blepharospasm, Benign Essential

Articles related to Blepharospasm, Benign Essential:

(show top 50) (show all 63)
# Title Authors Year
1
Combined effects of rTMS and botulinum toxin therapy in benign essential blepharospasm. ( 29530449 )
2018
2
Benign Essential Blepharospasm: What We Know and What We Don't. ( 29239874 )
2018
3
The Facial Nerve and Selective Neurectomy for Treatment of Benign Essential Blepharospasm. ( 29239881 )
2018
4
The Benign Essential Blepharospasm Research Foundation. ( 29239875 )
2018
5
Oral Pharmacotherapy for Benign Essential Blepharospasm. ( 29239876 )
2018
6
Developments in the treatment of benign essential blepharospasm. ( 29916840 )
2018
7
Clinical Features of Benign Essential Blepharospasm in Korean Patients. ( 30311455 )
2018
8
Comparison of Safety and Efficacy of Botox and Neuronox in the Management of Benign Essential Blepharospasm: A Split-face Study. ( 29022290 )
2017
9
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
10
Transcranial direct current stimulation for patients with benign essential blepharospasm: a case report. ( 27672032 )
2016
11
Alleviating Maneuvers for Benign Essential Blepharospasm and Hemifacial Spasm. ( 27607413 )
2016
12
Language modulation of benign essential blepharospasm. ( 26990543 )
2016
13
Changes in corneal aesthesiometry and the sub-basal nerve plexus in benign essential blepharospasm. ( 25904123 )
2015
14
Benign Essential Blepharospasm-There Is More to It Than Just Blinking. ( 26576018 )
2015
15
Benign Essential Blepharospasm is a Disorder of Neuroplasticity: Lessons From Animal Models. ( 26576017 )
2015
16
Re: "Comparison of Preferences Between OnabotulinumtoxinA (Botox) and IncobotulinumtoxinA (Xeomin) in the Treatment of Benign Essential Blepharospasm". ( 24398499 )
2014
17
Reply Re: "Comparison of Preferences Between OnabotulinumtoxinA (Botox) and IncobotulinumtoxinA (Xeomin) in the Treatment of Benign Essential Blepharospasm". ( 24398500 )
2014
18
Effect of Upper Eyelid Myectomy on Subsequent Chemodenervation in the Management of Benign Essential Blepharospasm. ( 25192329 )
2014
19
Long-term therapy of benign essential blepharospasm and facial hemispasm with botulinum toxin A: retrospective assessment of the clinical and quality of life impact in patients treated for more than 15A years. ( 24604684 )
2014
20
Scientific skepticism and new discoveries: an analysis of a report of zinc/phytase supplementation and the efficacy of botulinum toxins in treating cosmetic facial rhytides, hemifacial spasm and benign essential blepharospasm. ( 25105993 )
2014
21
A direct comparison of onabotulinumtoxina (Botox) and IncobotulinumtoxinA (Xeomin) in the treatment of benign essential blepharospasm: a split-face technique. ( 24739994 )
2014
22
The Influence of Benign Essential Blepharospasm on Dry Eye Disease and Ocular Inflammation. ( 24269849 )
2013
23
Efficacy of botulinum toxin in benign essential Blepharospasm: Desirable & undesirable effects. ( 24550960 )
2013
24
Long-term botulinum toxin treatment of benign essential blepharospasm, hemifacial spasm, and Meige syndrome. ( 23541393 )
2013
25
Comparison of preferences between onabotulinumtoxinA (Botox) and incobotulinumtoxinA (Xeomin) in the treatment of benign essential blepharospasm. ( 23552607 )
2013
26
A resting state functional magnetic resonance imaging study of patients with benign essential blepharospasm. ( 23636105 )
2013
27
Animal models for investigating benign essential blepharospasm. ( 23814538 )
2013
28
Gender differences in benign essential blepharospasm. ( 22460669 )
2012
29
Quantification of macular carotenoids using autofluorescence imaging in patients with photosensitive migraine and benign essential blepharospasm. ( 22332230 )
2012
30
Risk of glaucoma among patients with benign essential blepharospasm. ( 20724866 )
2010
31
Orbicularis oculi myo-osseous fixation: a new treatment for benign essential blepharospasm and blepharospasm associated with diffuse facial dystonia (meige syndrome). ( 20507022 )
2010
32
Difference in response to botulinum toxin type A treatment between patients with benign essential blepharospasm and hemifacial spasm. ( 20456439 )
2010
33
Treatment of benign essential blepharospasm with finasteride: a case report. ( 20386102 )
2010
34
Ophthaproblem. Can you identify this condition? Benign essential blepharospasm. ( 21075996 )
2010
35
High versus low concentration botulinum toxin A for benign essential blepharospasm: does dilution make a difference? ( 19300145 )
2009
36
FL-41 tint improves blink frequency, light sensitivity, and functional limitations in patients with benign essential blepharospasm. ( 19410958 )
2009
37
Efficacy and safety of purified botulinum toxin type A (Dysport) for the treatment of benign essential blepharospasm: a randomized, placebo-controlled, phase II trial. ( 18325821 )
2008
38
Closely spaced stressful life events precede the onset of benign essential blepharospasm and hemifacial spasm. ( 18090560 )
2007
39
Use of high-dose botulinum A toxin in benign essential blepharospasm: is too high too much? ( 16872340 )
2006
40
The evaluation of light sensitivity in benign essential blepharospasm. ( 16815254 )
2006
41
Health-related quality of life and psychosocial characteristics of patients with benign essential blepharospasm. ( 16401794 )
2006
42
Myobloc for the treatment of benign essential blepharospasm in patients refractory to botox. ( 16714924 )
2006
43
Benign essential blepharospasm. ( 15970766 )
2005
44
Benign essential blepharospasm: risk factors with reference to hemifacial spasm. ( 16340493 )
2005
45
Benign essential blepharospasm. ( 15860145 )
2005
46
Benign essential blepharospasm among residents of Olmsted County, Minnesota, 1976 to 1995: an epidemiologic study. ( 12918550 )
2003
47
A functional magnetic resonance imaging study in patients with benign essential blepharospasm. ( 12616082 )
2003
48
Benign essential blepharospasm. ( 11914708 )
2002
49
Differential section of the seventh nerve as a tertiary procedure for the treatment of benign essential blepharospasm. ( 11476178 )
2001
50
A novel mechanism for benign essential blepharospasm. ( 10588244 )
1999

Variations for Blepharospasm, Benign Essential

ClinVar genetic disease variations for Blepharospasm, Benign Essential:

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

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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7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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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
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49 NCI
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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