BEB
MCID: BLP003
MIFTS: 45

Blepharospasm (BEB) malady

Neuronal diseases, Eye diseases categories

Summaries for Blepharospasm

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42NIH Rare Diseases, 43NINDS, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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NINDS:43 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 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: Blepharospasm, also known as benign essential blepharospasm, is related to eyelid disease and familial dystonia. An important gene associated with Blepharospasm is DRD5 (dopamine receptor D5). Affiliated tissues include eye, brain and thalamus.

NIH Rare Diseases:42 Benign essential blepharospasm 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. benign essential blepharospasm occurs in both men and women, although it is especially common in middle-aged and elderly women. most cases are treated with botulinum toxin injections. the exact cause of benign essential blepharospasm is unknown. last updated: 7/22/2009

Genetics Home Reference:21 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.

Wikipedia:63 A blepharospasm (from Greek: blepharon, eyelid, and spasm, an uncontrolled muscle contraction), is any... more...

Description from OMIM:46 606798

Aliases & Classifications for Blepharospasm

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8Disease Ontology, 42NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 43NINDS, 10DISEASES, 44Novoseek, 60UMLS, 27ICD9CM, 34MeSH, 46OMIM, 56SNOMED-CT, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases, Eye diseases


Aliases & Descriptions:

blepharospasm 8 42 22 43 10 44
benign essential blepharospasm 42 21 43 60
essential blepharospasm 21
primary blepharospasm 21
eyelid twitching 21
spasm of eyelids 21
beb 42


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Disease Ontology8 DOID:529
ICD9CM27 333.81
MeSH34 D001764
OMIM46 606798
ICD1025 G24.5

Related Diseases for Blepharospasm

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17GeneCards, 18GeneDecks
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Diseases in the Blepharospasm family:

Blepharospasm, Primary Benign

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

(show top 50)    (show all 86)
idRelated DiseaseScoreTop Affiliating Genes
1eyelid disease30.0TOR1A, THAP1
2familial dystonia30.0THAP1, TOR1A
3parkinson's disease30.0GCH1, OMD
4cervicitis10.5
5apraxia10.4
6blepharospasm, primary benign10.3
7bell's palsy10.2
8strabismus10.2
9aceruloplasminemia10.1
10epilepsy syndrome10.1
11idiopathic generalized epilepsy10.1
12glaucoma10.1
13myasthenia gravis10.1
14cerebrotendinous xanthomatosis10.0
15entropion10.0
16methylmalonic acidemia10.0
17multiple system atrophy10.0
18schizophrenia10.0
19myotonia congenita, atypical, acetazolamide-responsive10.0
20blepharospasm - oromandibular dystonia10.0
21deafness-dystonia-optic neuronopathy syndrome10.0TIMM8A, THAP1
22focal dystonia10.0TIMM8A, DRD5, TOR1A
23torsion dystonia10.0TOR1A, GCH1
24movement disease10.0TOR1A, GCH1
25bipolar disorder10.0DRD5, GNAL, NDUFV2, GCH1
26bardet-biedl syndrome9.8
27olivopontocerebellar atrophy9.8
28saethre-chotzen syndrome9.8
29pelizaeus-merzbacher disease9.8
30essential tremor9.8
31cerebritis9.8
32systemic lupus erythematosus9.8
33melas syndrome9.8
34obsessive-compulsive disorder9.8
35good syndrome9.8
36creatine transporter deficiency9.8
37ganglioglioma9.8
38neuronitis9.8
39progressive supranuclear palsy9.8
40blepharophimosis9.8
41cerebellopontine angle meningioma9.8
42adult syndrome9.8
43lipoid proteinosis9.8
44chorea-acanthocytosis9.8
45deafness dystonia syndrome9.8
46spastic entropion9.8
47fuchs' endothelial dystrophy9.8
48angiosarcoma9.8
49astigmatism9.8
50cerebellar ataxia9.8

Graphical network of the top 20 diseases related to Blepharospasm:



Diseases related to blepharospasm

Clinical Features for Blepharospasm

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46OMIM
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Clinical features from OMIM:

606798

Drugs & Therapeutics for Blepharospasm

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Blepharospasm

Drug clinical trials:

Search ClinicalTrials for Blepharospasm

Search NIH Clinical Center for Blepharospasm

Search CenterWatch for Blepharospasm

Genetic Tests for Blepharospasm

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22GTR
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Genetic tests related to Blepharospasm:

id Genetic test Affiliating Genes
1 Blepharospasm22

Anatomical Context for Blepharospasm

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32MalaCards
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MalaCards organs/tissues related to Blepharospasm:

32
Eye, Brain, Thalamus, Cortex, Endothelial, Parietal lobe, Globus pallidus, Caudate nucleus

Animal Models for Blepharospasm or affiliated genes

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Publications for Blepharospasm

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50PubMed
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Articles related to Blepharospasm:

(show top 50)    (show all 491)
idTitleAuthorsYear
1
Long-term efficacy and safety of botulinum toxin a injections to treat blepharospasm and hemifacial spasm. (23844601)
2013
2
Is increased blinking a form of blepharospasm? (23751916)
2013
3
Pilot study of topical acetyl hexapeptide-8 in the treatment for blepharospasm in patients receiving botulinum toxin therapy. (23146065)
2013
4
Prevalence of blepharospasm and apraxia of eyelid opening in patients with parkinsonism, cervical dystonia and essential tremor. (23075668)
2012
5
Blepharospasm cause and treatment: YouTube as a reflection of current popular thought. (23138220)
2012
6
Asymmetric blepharospasm with bilateral curtain sign. (23157244)
2012
7
The blink reflex recovery cycle differs between essential and presumed psychogenic blepharospasm. (21321334)
2011
8
Risk of glaucoma among patients with benign essential blepharospasm. (20724866)
2010
9
Ophthaproblem. Can you identify this condition? Benign essential blepharospasm. (21075996)
2010
10
Clinical efficacy and tolerability of Xeomin in the treatment of blepharospasm. (20002742)
2009
11
Botulinum toxin A injections improve apraxia of eyelid opening without overt blepharospasm associated with neurodegenerative diseases. (18200601)
2008
12
Bilateral upper eyelid ectropion associated with blepharospasm. (17057180)
2006
13
Efficacy and safety of a new Botulinum Toxin Type A free of complexing proteins in the treatment of blepharospasm. (15959841)
2006
14
Controlling blepharospasm effect during applanation tonometry using the Volk SuperField Lid Lens Adapter. (17191193)
2006
15
Essential blepharospasm responding to haloperidol. (17135386)
2006
16
Staged deep brain stimulation for refractory craniofacial dystonia with blepharospasm: case report and physiology. (15670394)
2005
17
Botulinum toxin type A therapy for blepharospasm. (15674969)
2005
18
Benign essential blepharospasm: risk factors with reference to hemifacial spasm. (16340493)
2005
19
Botulinum toxin management of upper facial rhytidosis and blepharospasm. (16214565)
2005
20
Correlation of low-T3 syndrome with blepharospasm and hemifacial spasm. (16075338)
2005
21
Evidence of widespread impairment of motor cortical inhibition in focal dystonia: a transcranial magnetic stimulation study in patients with blepharospasm and cervical dystonia. (14509652)
2004
22
Striatal activation during blepharospasm revealed by fMRI. (12796523)
2003
23
Botulinum toxin improves lid opening delays in blepharospasm-associated apraxia of lid opening. (12084888)
2002
24
The stimulus intensity modifies the blink reflex recovery cycle in healthy subjects and in blepharospasm. (11738202)
2001
25
The metabolic topography of essential blepharospasm: a focal dystonia with general implications. (10980732)
2000
26
Positron emission tomography in patients with benign essential blepharospasm. (9949425)
1999
27
Proton magnetic resonance spectroscopy in primary blepharospasm. (9748053)
1998
28
Blepharospasm: past, present, and future. (9783280)
1998
29
Blepharospasm and oromandibular dystonia. (9087995)
1997
30
Relative absence of psychopathology in benign essential blepharospasm and hemifacial spasm. (8710122)
1996
31
Treatment selections of 239 patients with blepharospasm and Meige syndrome over 11 years. (9059273)
1996
32
Long-term changes in duration of relief with botulinum toxin treatment of essential blepharospasm and hemifacial spasm. (9098314)
1995
33
Long-term treatment of blepharospasm with botulinum toxin type A. (8751102)
1995
34
Serotonin responsive and nonresponsive diurnal depressive mood disorders and pathological affect in thalamic infarct associated with myoclonus and blepharospasm. (8018800)
1994
35
Auditory brain-stem responses in blepharospasm. (7681381)
1993
36
Acute angle-closure glaucoma following botulinum toxin injection for blepharospasm. (2354140)
1990
37
Essential blepharospasm and related dystonias. (2686056)
1989
38
Long-term results and complications of botulinum A toxin in the treatment of blepharospasm. (3211461)
1988
39
Pharmacological study in Meige's syndrome with predominant blepharospasm. (3280128)
1988
40
Blinking and essential blepharospasm. (3802803)
1987
41
Botulinum toxin for benign essential blepharospasm, hemifacial spasm and age-related lower eyelid entropion. (3815164)
1987
42
Botulinum injection therapy for blepharospasm: a review and report of 75 patients. (3533250)
1986
43
Treatment of essential blepharospasm. (3755986)
1986
44
Periorbital myectomy for essential blepharospasm. (3773047)
1986
45
Blepharospasm and Meige syndrome: a review of diagnostic, aetiological and treatment approaches. (3701663)
1986
46
Hypnosis and biofeedback as adjunctive therapy in blepharospasm: a case report. (6507331)
1984
47
A complex case of hysterical blepharospasm. (6670603)
1983
48
Blinking and blepharospasm. Mechanism, diagnosis, and management. (7143695)
1982
49
Blepharospasm and oromandibular dystonia (Meige's syndrome) in sisters. (7235635)
1981
50
Blepharospasm surgery. An anatomical approach. (7236103)
1981

Genetic Variations for Blepharospasm

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Expression for genes affiliated with Blepharospasm

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Blepharospasm

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Pathways for genes affiliated with Blepharospasm

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Compounds for genes affiliated with Blepharospasm

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GO Terms for genes affiliated with Blepharospasm

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16Gene Ontology
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Biological processes related to Blepharospasm according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1adenylate cyclase-activating dopamine receptor signaling pathwayGO:0071919.9DRD5, GNAL
2negative regulation of blood pressureGO:0457769.9DRD5, GCH1
3adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:0071899.9DRD5, GNAL
4response to amphetamineGO:0019759.8GNAL, DRD5
5activation of adenylate cyclase activityGO:0071909.6DRD5, GNAL

Molecular functions related to Blepharospasm according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1zinc ion bindingGO:0082708.5THAP1, ZFYVE1, AFG3L2, MECR, GCH1

Products for genes affiliated with Blepharospasm

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  • Antibodies
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Sources for Blepharospasm

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet