BEB
MCID: BLP003
MIFTS: 45

Blepharospasm (BEB) malady

Neuronal diseases, Eye diseases categories

Summaries for Blepharospasm

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21Genetics Home Reference, 42NIH Rare Diseases, 43NINDS, 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.

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: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

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:

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Drug clinical trials:

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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, Endothelial, Cortex, Globus pallidus, Caudate nucleus, Parietal lobe

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
Prospective Study Evaluating IncobotulinumtoxinA for Cervical Dystonia or Blepharospasm: Interim Results from the First 145 Subjects with Cervical Dystonia. (23724362)
2013
2
Myectomy for blepharospasm 2013. (23925062)
2013
3
Blepharospasm in a patient with pontine capillary telangiectasia. (22082598)
2012
4
Age at onset and symptom spread in primary adult-onset blepharospasm and cervical dystonia. (22890501)
2012
5
Isolated frontalis, corrugator and procerus dystonia: a blepharospasm variant. (22899039)
2012
6
Blepharospasm plus Cervical Dystonia with Predominant Anterocollis: A Distinctive Subphenotype of Segmental Craniocervical Dystonia? (22229127)
2011
7
A new botulinum toxin (Xeomin) for cervical dystonia and blepharospasm. (21068703)
2010
8
The effect of bangerter occlusion foils on blepharospasm and hemifacial spasm in occlusion-positive and occlusion-negative patients. (20148097)
2010
9
The phenomenology of the geste antagoniste in primary blepharospasm and cervical dystonia. (20108367)
2010
10
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
11
Use of high-dose botulinum A toxin in benign essential blepharospasm: is too high too much? (16872340)
2006
12
The changes in corneal astigmatism after botulinum toxin-a injection in patients with blepharospasm. (16479079)
2006
13
Supramaximal doses of botulinum toxin for refractory blepharospasm. (16828511)
2006
14
Relationship between eye symptoms and blepharospasm: a multicenter case-control study. (16092106)
2005
15
Benign essential blepharospasm. (15860145)
2005
16
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene. (12539217)
2003
17
Botulinum toxin A treatment in patients suffering from blepharospasm and dry eye. (12488263)
2003
18
Bilateral pallidal stimulation for blepharospasm-oromandibular dystonia (Meige syndrome). (12821763)
2003
19
Bell's palsy-induced blepharospasm. (11967652)
2002
20
Prevalence of primary blepharospasm in a community of Puglia region, Southern Italy. (11402121)
2001
21
Use of botulinum toxin A in the treatment of hemifacial spasm and blepharospasm. (10063705)
1999
22
Risk factors for spread of primary adult onset blepharospasm: a multicentre investigation of the Italian movement disorders study group. (10519867)
1999
23
Mexiletine in the treatment of blepharospasm: experience with the first three patients. (9918369)
1999
24
Lamotrigine-induced blepharospasm. (10417037)
1999
25
Combined use of type A and F botulinum toxins for blepharospasm: a double-blind controlled trial. (10584680)
1999
26
Tardive blepharospasm. (9827620)
1998
27
Sensory modulation of the blink reflex in patients with blepharospasm. (9740118)
1998
28
Different effects of levodopa and apomorphine on blink reflex recovery cycle in essential blepharospasm. (9286635)
1997
29
Unilateral injection of botulinum toxin in blepharospasm: single fiber electromyography and blink reflex study. (8771064)
1996
30
The blepharospasm disability scale: an instrument for the assessment of functional health in blepharospasm. (7565824)
1995
31
Frontalis suspension for essential blepharospasm unresponsive to botulinum toxin therapy. First results. (8312829)
1993
32
Idiopathic blepharospasm-oromandibular dystonia syndrome (Meige's syndrome) presenting as chronic temporomandibular joint dislocation. (2049364)
1991
33
Blepharospasm associated with pseudohypoparathyroidism and bilateral basal ganglia calcifications. (1758461)
1991
34
Apraxia of lid opening in blepharospasm. (2381654)
1990
35
Ocular movements in essential blepharospasm. (2248334)
1990
36
Side effects of the use of botulinum toxin for treatment of benign essential blepharospasm and hemifacial spasm. (2381655)
1990
37
Blepharospasm-oromandibular dystonia associated with a left cerebellopontine angle meningioma. (2254604)
1990
38
Blepharospasm and its treatment, with emphasis on the use of botulinum toxin. (2645599)
1989
39
Blinking-blepharospasm after long-term neuroleptic treatment. (2716647)
1989
40
Botulinum toxin injections in the treatment of blepharospasm, hemifacial spasm, and eyelid fasciculations. (3208210)
1988
41
Progressive supranuclear palsy: report of a case with torticollis, blepharospasm, and dysfluency. (3799710)
1986
42
The use of botulinum toxin in the medical management of benign essential blepharospasm. (3951806)
1986
43
Botulinum isn't just a poison anymore. Botulinum toxin in treatment of strabismus and essential blepharospasm. (3974563)
1985
44
Stretch reflex blepharospasm. (4022388)
1985
45
Treatment of essential blepharospasm. II. A modification of exposure for the muscle stripping technique. (6696676)
1984
46
Blepharospasm--oromandibular dystonia (Meige's syndrome) misdiagnosed as secondary hemifacial spasm. (6720874)
1984
47
Psychological aspects of essential blepharospasm. (6502155)
1984
48
Blepharospasm. (7328398)
1981
49
Percutaneous thermoblock treatment for blepharospasm. (6951923)
1981
50
Blepharospasm-oromandibular dystonia syndrome (Brueghel's syndrome). A variant of adult-onset torsion dystonia? (1011031)
1976

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