BEB
MCID: BLP003
MIFTS: 42

Blepharospasm (BEB) malady

Neuronal, Eye categories

Summaries for Blepharospasm

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 44NINDS, 64Wikipedia, 47OMIM, 33MalaCards
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NINDS:44 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 focal dystonia and torsion dystonia. An important gene associated with Blepharospasm is DRD5 (dopamine receptor D5). Affiliated tissues include brain, cortex and endothelial.

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.

NIH Rare Diseases:43 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

Wikipedia:64 A blepharospasm (from Greek: blepharo, eyelid, and spasm, an uncontrolled muscle contraction), is any... more...

Description from OMIM:47 606798

Aliases & Classifications for Blepharospasm

Sources:
8Disease Ontology, 43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 44NINDS, 10DISEASES, 45Novoseek, 61UMLS, 27ICD9CM, 35MeSH, 47OMIM, 57SNOMED-CT, 25ICD10
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Classifications:

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


Aliases & Descriptions:

blepharospasm 8 43 22 44 10 45
benign essential blepharospasm 43 21 44 61
essential blepharospasm 21
primary blepharospasm 21
eyelid twitching 21
spasm of eyelids 21
beb 43


External Ids:

Disease Ontology8 DOID:529
ICD9CM27 333.81
MeSH35 D001764
OMIM47 606798
ICD1025 G24.5

Related Diseases for Blepharospasm

Sources:
17GeneCards, 18GeneDecks
See all sources

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 74)
idRelated DiseaseScoreTop Affiliating Genes
1focal dystonia30.1TIMM8A, DRD5, TOR1A
2torsion dystonia30.0GCH1, TOR1A
3hemifacial spasm10.8
4blepharospasm - oromandibular dystonia10.5
5cervical dystonia10.5
6oromandibular dystonia10.5
7apraxia10.4
8blepharospasm, primary benign10.3
9strabismus10.2
10aceruloplasminemia10.1
11myoclonus10.1
12tremor10.1
13dystonia, primary cervical10.1
14cerebrotendinous xanthomatosis10.0
15myotonia congenita, atypical, acetazolamide-responsive10.0
16essential strabismus10.0
17eyelid disease10.0TOR1A, THAP1
18deafness-dystonia-optic neuronopathy syndrome10.0TIMM8A, THAP1
19familial dystonia10.0THAP1, TOR1A
20movement disease10.0GCH1, TOR1A
21parkinson's disease10.0GCH1, OMD
22bipolar disorder10.0GNAL, DRD5, NDUFV2, GCH1
23bardet-biedl syndrome9.9
24olivopontocerebellar atrophy9.9
25saethre-chotzen syndrome9.9
26pelizaeus-merzbacher disease9.9
27essential tremor9.9
28systemic lupus erythematosus9.9
29melas syndrome9.9
30obsessive-compulsive disorder9.9
31good syndrome9.9
32creatine transporter deficiency9.9
33ganglioglioma9.9
34progressive supranuclear palsy9.9
35blepharophimosis9.9
36cerebellopontine angle meningioma9.9
37adult syndrome9.9
38lipoid proteinosis9.9
39chorea-acanthocytosis9.9
40n syndrome9.9
41deafness dystonia syndrome9.9
42spastic entropion9.9
43fuchs' endothelial dystrophy9.9
44angiosarcoma9.9
45astigmatism9.9
46tetanus9.9
47xanthomatosis9.9
48ataxia with vitamin e deficiency9.9
49oral-facial-digital syndrome type i9.9
50gm1 gangliosidosis type 39.9

Graphical network of the top 20 diseases related to Blepharospasm:



Diseases related to blepharospasm

Clinical Features for Blepharospasm

Sources:
47OMIM
See all sources

Clinical features from OMIM:

606798

Drugs & Therapeutics for Blepharospasm

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
22GTR
See all sources

Genetic tests related to Blepharospasm:

id Genetic test Affiliating Genes
1 Blepharospasm22

Anatomical Context for Blepharospasm

Sources:
33MalaCards
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MalaCards organs/tissues related to Blepharospasm:

33
Brain, Cortex, Endothelial, Parietal lobe, Temporal lobe, Globus pallidus, Thalamus, Caudate nucleus

Animal Models for Blepharospasm or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Blepharospasm

Sources:
51PubMed
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Articles related to Blepharospasm:

(show top 50)    (show all 494)
idTitleAuthorsYear
1
THAP1 mutations in a Greek primary blepharospasm series. (23036512)
2013
2
Pilot study of topical acetyl hexapeptide-8 in the treatment for blepharospasm in patients receiving botulinum toxin therapy. (23146065)
2013
3
Anatomical correlates of blepharospasm. (23210426)
2012
4
Cortical gray matter changes in primary blepharospasm: a voxel-based morphometry study. (21717508)
2011
5
Profile of XeominAr (incobotulinumtoxinA) for the treatment of blepharospasm. (21691580)
2011
6
Double-blind, randomised, parallel group pilot study comparing two botulinum toxin type A products for the treatment of blepharospasm. (21161715)
2011
7
Electrical activation of the orbicularis oculi muscle does not increase the effectiveness of botulinum toxin type A in patients with blepharospasm. (19968711)
2010
8
The role of the injection botulinum toxin A in cases of blepharospasm syndrome, hemifacial spasm and Meige's syndrome. (22610735)
2010
9
Long-term efficacy of botulinum toxin A for treatment of blepharospasm, hemifacial spasm, and spastic entropion: a multicentre study using two drug-dose escalation indexes. (19648904)
2010
10
Risk of glaucoma among patients with benign essential blepharospasm. (20724866)
2010
11
Relationship between various clinical outcome assessments in patients with blepharospasm. (19053054)
2009
12
Diffusion tensor imaging in patients with primary cervical dystonia and in patients with blepharospasm. (18217887)
2008
13
Patients with essential blepharospasm and glaucoma: case reports. (19039478)
2008
14
Co-occurence of blepharospasm, tourettism and obsessive-compulsive symptoms during lamotrigine treatment. (17537560)
2007
15
Asynchronous blepharospasm, facial and cervical dystonia, and bilateral asynchronous hemifacial spasm. (17133455)
2007
16
Health-related quality of life in blepharospasm and hemifacial spasm. (17698774)
2007
17
Analysis of blink rate in patients with blepharospasm. (16622858)
2006
18
Essential blepharospasm responding to haloperidol. (17135386)
2006
19
Botulinum toxin a in the treatment of blepharospasm: a 10-year experience. (16100966)
2005
20
Assessment of blepharospasm surgery using an improved disability scale: study of 138 patients. (15942501)
2005
21
Primary blepharospasm: diagnosis and management. (14871168)
2004
22
Improvement of blepharospasm with Zolpidem. (15300667)
2004
23
A novel temporary treatment remedy for blepharospasm. (15004589)
2004
24
Botulinum toxin type B in blepharospasm and hemifacial spasm. (12700325)
2003
25
The use of botulinum toxin A for treatment of possible essential blepharospasm in a dog. (15080472)
2003
26
Intracortical excitability in the hand motor representation in hand dystonia and blepharospasm. (12360552)
2002
27
Orbicularis oculi and orbicularis oris reflexes in blepharospasm and torticollis spasmodica during spasm-free intervals. (11528155)
2001
28
Complete secondary botulinum toxin therapy failure in blepharospasm. (11127541)
2000
29
Botulinum toxin treatment of hemifacial spasm and blepharospasm: objective response evaluation. (10514580)
1999
30
Follow-up of patients with essential blepharospasm who underwent eyelid protractor myectomy at the Mayo Clinic from 1980 through 1995. (10189637)
1999
31
Frontalis suspension in the treatment of essential blepharospasm unresponsive to botulinum-toxin therapy: long-term results. (9285216)
1997
32
Oculinum injection-resistant blepharospasm in young patients. (9076788)
1997
33
A new variant of blepharospasm. (1602309)
1992
34
Blepharospasm hemifacial spasm and tremors possibly due to isolated caudate nucleus lesions. (1307359)
1992
35
Blepharospasm and obsessive-compulsive disorder. (1737975)
1992
36
Facial dystonia, essential blepharospasm and hemifacial spasm. (2042553)
1991
37
Treatment of blepharospasm and hemifacial spasm with botulinum A toxin: a Canadian multicentre study. (2054723)
1991
38
Blepharospasm associated with olivopontocerebellar atrophy. (2531169)
1989
39
Torticollis and blepharospasm in systemic lupus erythematosus. (2811894)
1989
40
Treatment of blepharospasm with botulinum toxin. (2811486)
1989
41
Surgical management of blepharospasm. (3278554)
1988
42
Botulinum toxin therapy for strabismus and blepharospasm: Bascom Palmer Eye Institute experience. (3726970)
1986
43
Blepharospasm and Meige syndrome: a review of diagnostic, aetiological and treatment approaches. (3701663)
1986
44
Blepharospasm due to unilateral diencephalon infarction. (3969224)
1985
45
Surgical therapy for blepharospasm. (6858773)
1983
46
Decongestant-induced blepharospasm and orofacial dystonia. (6177879)
1982
47
Biofeedback in the treatment of blepharospasm: a case study. (7294220)
1981
48
Blepharospasm surgery. An anatomical approach. (7236103)
1981
49
Pharmacology of blepharospasm-oromandibular dystonia syndrome. (7190236)
1980
50
The problem of adult-onset idiopathic torsion dystonia and other isolated dyskinesias in adult life (including blepharospasm, oromandibular dystonia, dystonic writer's cramp, and torticollis, or axial dystonia). (941774)
1976

Genetic Variations for Blepharospasm

Expression for genes affiliated with Blepharospasm

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

Search GEO for disease gene expression data for Blepharospasm.

Pathways for genes affiliated with Blepharospasm

Compounds for genes affiliated with Blepharospasm

GO Terms for genes affiliated with Blepharospasm

Sources:
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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Sources for Blepharospasm

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet