BEB
MCID: BLP003
MIFTS: 47

Blepharospasm (BEB) malady

Rare diseases, Neuronal diseases, Eye diseases categories

Summaries for Blepharospasm

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9Disease Ontology, 22Genetics Home Reference, 44NIH Rare Diseases, 45NINDS, 66Wikipedia, 48OMIM, 34MalaCards
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NINDS:45 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), and among its related pathways are Dopamine-DARPP32 Feedback onto cAMP Pathway and Calcium signaling pathway. The compound tyrosine have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and thalamus.

Disease Ontology:9 A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks.

Genetics Home Reference:22 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:44 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:66 A blepharospasm (from Greek: blepharon, eyelid, and spasm, an uncontrolled muscle contraction), is any... more...

Description from OMIM:48 606798

Aliases & Classifications for Blepharospasm

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9Disease Ontology, 44NIH Rare Diseases, 23GTR, 45NINDS, 11DISEASES, 46Novoseek, 22Genetics Home Reference, 63UMLS, 59SNOMED-CT, 48OMIM, 28ICD9CM, 36MeSH, 26ICD10
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Classifications:

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


Aliases & Descriptions:

blepharospasm 9 44 23 45 11 46
benign essential blepharospasm 44 22 45 63
essential blepharospasm 22
primary blepharospasm 22
eyelid twitching 22
spasm of eyelids 22
beb 44


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Disease Ontology9 DOID:529
OMIM48 606798
ICD9CM28 333.81
MeSH36 D001764
ICD1026 G24.5

Related Diseases for Blepharospasm

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18GeneCards, 19GeneDecks
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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 106)
idRelated DiseaseScoreTop Affiliating Genes
1focal dystonia30.2TIMM8A, TOR1A, DRD5
2torsion dystonia29.9TOR1A
3hemifacial spasm10.8
4dystonia10.7
5cervical dystonia10.5
6cervicitis10.5
7oromandibular dystonia10.5
8meigs syndrome10.4
9apraxia10.4
10blepharospasm - oromandibular dystonia10.4
11blepharospasm, primary benign10.3
12bell's palsy10.2
13strabismus10.2
14blindness10.2
15aceruloplasminemia10.1
16idiopathic generalized epilepsy10.1
17glaucoma10.1
18myasthenia gravis10.1
19myoclonus10.1
20tremor10.1
21cerebrotendinous xanthomatosis10.0
22parkinson's disease10.0
23entropion10.0
24methylmalonic acidemia10.0
25multiple system atrophy10.0
26schizophrenia10.0
27schwartz–jampel syndrome10.0
28myotonia congenita, atypical, acetazolamide-responsive10.0
29bipolar disorder10.0GNAL, DRD5
30eyelid disease10.0TOR1A, THAP1
31generalized dystonia10.0THAP1, TOR1A
32deafness dystonia syndrome10.0TIMM8A, THAP1
33movement disease10.0THAP1, TOR1A
34bardet-biedl syndrome9.9
35rett syndrome9.9
36obsessive-compulsive disorder9.9
37ganglioglioma9.9
38hemidystonia9.9
39creatine transporter deficiency9.9
40neuronitis9.9
41progressive supranuclear palsy9.9
42blepharophimosis9.9
43cerebellopontine angle meningioma9.9
44fuchs' endothelial dystrophy9.9
45mongolian spot9.9
46olivopontocerebellar atrophy9.9
47saethre-chotzen syndrome9.9
48pelizaeus-merzbacher disease9.9
49essential tremor9.9
50cerebritis9.9

Graphical network of the top 20 diseases related to Blepharospasm:



Diseases related to blepharospasm

Symptoms for Blepharospasm

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48OMIM
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Clinical features from OMIM:

606798

Drugs & Therapeutics for Blepharospasm

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-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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23GTR
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Genetic tests related to Blepharospasm:

id Genetic test Affiliating Genes
1 Blepharospasm23

Anatomical Context for Blepharospasm

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34MalaCards
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MalaCards organs/tissues related to Blepharospasm:

34
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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53PubMed
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Articles related to Blepharospasm:

(show top 50)    (show all 484)
idTitleAuthorsYear
1
Prospective Study Evaluating IncobotulinumtoxinA for Cervical Dystonia or Blepharospasm: Interim Results from the First 145 Subjects with Cervical Dystonia. (23724362)
2013
2
A case of Bell's palsy associated with blepharospasm. (22494605)
2013
3
A resting state functional magnetic resonance imaging study of patients with benign essential blepharospasm. (23636105)
2013
4
Variability in the duration of the onset of idiopathic Parkinson's disease after essential blepharospasm. (23605608)
2013
5
Quantification of macular carotenoids using autofluorescence imaging in patients with photosensitive migraine and benign essential blepharospasm. (22332230)
2012
6
Twelve cases of drug-induced blepharospasm improved within 2 months of psychotropic cessation. (21753898)
2011
7
In the wink of an eye: nature and nurture in blepharospasm. (21775742)
2011
8
Upper lid orbicularis oculi muscle strip and sequential brow suspension with autologous fascia lata is beneficial for selected patients with essential blepharospasm. (18927593)
2009
9
A double-blind, randomized, crossover study of prosigne versus botox in patients with blepharospasm and hemifacial spasm. (17272968)
2007
10
Enhanced long-term potentiation-like plasticity of the trigeminal blink reflex circuit in blepharospasm. (16407569)
2006
11
Benign essential blepharospasm. (15970766)
2005
12
Health-related quality of life in blepharospasm or hemifacial spasm. (15595940)
2005
13
Staged deep brain stimulation for refractory craniofacial dystonia with blepharospasm: case report and physiology. (15670394)
2005
14
Botulinum toxin type A therapy for blepharospasm. (15674969)
2005
15
A patient with long-lasting attacks of bilateral 'blepharospasm', photophobia, lacrimation and rhinorrhoea. (14728711)
2004
16
Blepharospasm associated with olanzapine: a case report. (15363484)
2004
17
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene. (12539217)
2003
18
Ganglioglioma of the lateral ventricle presenting with blepharospasm - case report and review of the literature. (11386809)
2001
19
Orbicularis oculi and orbicularis oris reflexes in blepharospasm and torticollis spasmodica during spasm-free intervals. (11528155)
2001
20
Superselective neurectomy with periorbital primary reconstruction for blepharospasm. Case report. (11020926)
2000
21
Idiopathic blepharospasm does not lead to a parkinsonian syndrome: results of a questionnaire-based follow-up study. (10367696)
1999
22
Use of botulinum toxin A in the treatment of hemifacial spasm and blepharospasm. (10063705)
1999
23
Asymmetric predominantly ipsilateral blepharospasm and contralateral parkinsonism in an elderly patient with a right mesencephalic cyst. (9452338)
1998
24
Proton magnetic resonance spectroscopy in primary blepharospasm. (9748053)
1998
25
Pretarsal injections of botulinum toxin improve blepharospasm in previously unresponsive patients. (8648343)
1996
26
Multiple sclerosis leading to blepharospasm and dystonia in a sibling pair. (8892073)
1996
27
Bell's Palsy-associated blepharospasm relieved by aiding eyelid closure. (8967759)
1996
28
Effect of photic conditioning on blink reflex recovery function in blepharospasm. (8913199)
1996
29
Abnormal eye movements in blepharospasm and involuntary levator palpebrae inhibition. Clinical and pathophysiological considerations. (7820580)
1994
30
Auditory brain-stem responses in blepharospasm. (7681381)
1993
31
Memory-contingent saccades and the substantia nigra postulate for essential blepharospasm. (1998888)
1991
32
Blepharospasm associated with olivopontocerebellar atrophy. (2531169)
1989
33
Torticollis and blepharospasm in systemic lupus erythematosus. (2811894)
1989
34
Self-control training in blepharospasm. (2564073)
1989
35
Long-term results and complications of botulinum A toxin in the treatment of blepharospasm. (3211461)
1988
36
Surgical management of blepharospasm. (3278554)
1988
37
Etiology and differential diagnosis of blepharospasm and oromandibular dystonia. (3278535)
1988
38
Treatment of blepharospasm with botulinum A toxin. (3508221)
1987
39
Botulinum isn't just a poison anymore. Botulinum toxin in treatment of strabismus and essential blepharospasm. (3974563)
1985
40
Posttraumatic unilateral blepharospasm treated by selective facial neurectomy. (4011762)
1985
41
Blepharospasm and Meige syndrome: a review of diagnostic, aetiological and treatment approaches. (3920392)
1985
42
Blepharospasm, Meige syndrome, and hemifacial spasm: treatment with botulinum toxin. (4033932)
1985
43
Stretch reflex blepharospasm. (4022388)
1985
44
Blepharospasm due to unilateral diencephalon infarction. (3969224)
1985
45
Hypnosis and biofeedback as adjunctive therapy in blepharospasm: a case report. (6507331)
1984
46
Decongestant-induced blepharospasm and orofacial dystonia. (6177879)
1982
47
A periorbital approach to blepharospasm. (7123625)
1982
48
Blepharospasm and oromandibular dystonia (Meige's syndrome) in sisters. (7235635)
1981
49
Blepharospasm. (7328398)
1981
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

Variations for Blepharospasm

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Expression for genes affiliated with Blepharospasm

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2BioGPS, 16Gene 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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51PathCards, 54QIAGEN, 31KEGG
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Pathways related to Blepharospasm according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6DRD5, GNAL
29.6DRD5, GNAL

Compounds for genes affiliated with Blepharospasm

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46Novoseek
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Compounds related to Blepharospasm according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tyrosine468.5DRD5, TOR1A, TIMM8A, OMD

GO Terms for genes affiliated with Blepharospasm

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17Gene 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:0071919.6DRD5, GNAL
2adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:0071899.6DRD5, GNAL
3response to amphetamineGO:0019759.5DRD5, GNAL
4activation of adenylate cyclase activityGO:0071909.3DRD5, GNAL

Products for genes affiliated with Blepharospasm

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Sources for Blepharospasm

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet