BEB
MCID: BLP003
MIFTS: 48

Blepharospasm (BEB) malady

Rare diseases, Neuronal diseases, Eye diseases categories
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Summaries for Blepharospasm

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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 based summary: Blepharospasm, also known as benign essential blepharospasm, is related to torsion dystonia and focal 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:8 A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks.

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:65 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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Blepharospasm, Aliases & Descriptions:

Name: Blepharospasm 8 42 22 43 10 44 62
Benign Essential Blepharospasm 42 21 43 62
Essential Blepharospasm 21 62
Primary Blepharospasm 21 62
 
Eyelid Twitching 21 62
Spasm of Eyelids 21 62
Beb 42


Classifications:

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


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

Related Diseases for Blepharospasm

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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 103)
idRelated DiseaseScoreTop Affiliating Genes
1torsion dystonia30.6TOR1A
2focal dystonia30.2TIMM8A, TOR1A, DRD5
3hemifacial spasm10.8
4dystonia10.8
5cervical dystonia10.6
6cervicitis10.6
7oromandibular dystonia10.5
8apraxia10.5
9blepharospasm - oromandibular dystonia10.5
10blepharospasm, primary benign10.4
11strabismus10.2
12blindness10.2
13bell's palsy10.2
14aceruloplasminemia10.1
15idiopathic generalized epilepsy10.1
16myasthenia gravis10.1
17myoclonus10.1
18tremor10.1
19bipolar disorder10.1GNAL, DRD5
20eyelid disease10.1TOR1A, THAP1
21multiple system atrophy10.0
22parkinson's disease10.0
23schizophrenia10.0
24cerebrotendinous xanthomatosis10.0
25entropion10.0
26methylmalonic acidemia10.0
27schwartz–jampel syndrome10.0
28generalized dystonia10.0THAP1, TOR1A
29deafness dystonia syndrome10.0TIMM8A, THAP1
30movement disease9.9THAP1, TOR1A
31cerebellar ataxia9.9
32hydrocephalus9.9
33keratopathy9.9
34multiple sclerosis9.9
35niemann-pick disease type c19.9
36pelizaeus-merzbacher disease9.9
37systemic lupus erythematosus9.9
38olivopontocerebellar atrophy9.9
39saethre-chotzen syndrome9.9
40lipoid proteinosis9.9
41bardet-biedl syndrome9.9
42rett syndrome9.9
43progressive supranuclear palsy9.9
44cerebellopontine angle meningioma9.9
45ganglioglioma9.9
46hemidystonia9.9
47creatine transporter deficiency9.9
48mongolian spot9.9
49essential tremor9.9
50spastic entropion9.9

Graphical network of the top 20 diseases related to Blepharospasm:



Diseases related to blepharospasm

Symptoms for Blepharospasm

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Clinical features from OMIM:

606798

Drugs & Therapeutics for Blepharospasm

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Drug clinical trials:

Search ClinicalTrials for Blepharospasm

Search NIH Clinical Center for Blepharospasm

Genetic Tests for Blepharospasm

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Genetic tests related to Blepharospasm:

id Genetic test Affiliating Genes
1 Blepharospasm22

Anatomical Context for Blepharospasm

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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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Articles related to Blepharospasm:

(show top 50)    (show all 506)
idTitleAuthorsYear
1
Transient blepharospasm, apraxia of eyelid opening, and hemidyskinesia following a right parietotemporal infarct. (24954061)
2014
2
Prospective Study Evaluating IncobotulinumtoxinA for Cervical Dystonia or Blepharospasm: Interim Results from the First 145 Subjects with Cervical Dystonia. (23724362)
2013
3
A case of Bell's palsy associated with blepharospasm. (22494605)
2013
4
A resting state functional magnetic resonance imaging study of patients with benign essential blepharospasm. (23636105)
2013
5
Variability in the duration of the onset of idiopathic Parkinson's disease after essential blepharospasm. (23605608)
2013
6
Quantification of macular carotenoids using autofluorescence imaging in patients with photosensitive migraine and benign essential blepharospasm. (22332230)
2012
7
Twelve cases of drug-induced blepharospasm improved within 2 months of psychotropic cessation. (21753898)
2011
8
In the wink of an eye: nature and nurture in blepharospasm. (21775742)
2011
9
Upper lid orbicularis oculi muscle strip and sequential brow suspension with autologous fascia lata is beneficial for selected patients with essential blepharospasm. (18927593)
2009
10
A double-blind, randomized, crossover study of prosigne versus botox in patients with blepharospasm and hemifacial spasm. (17272968)
2007
11
Enhanced long-term potentiation-like plasticity of the trigeminal blink reflex circuit in blepharospasm. (16407569)
2006
12
Benign essential blepharospasm. (15970766)
2005
13
Health-related quality of life in blepharospasm or hemifacial spasm. (15595940)
2005
14
Staged deep brain stimulation for refractory craniofacial dystonia with blepharospasm: case report and physiology. (15670394)
2005
15
Botulinum toxin type A therapy for blepharospasm. (15674969)
2005
16
A patient with long-lasting attacks of bilateral 'blepharospasm', photophobia, lacrimation and rhinorrhoea. (14728711)
2004
17
Blepharospasm associated with olanzapine: a case report. (15363484)
2004
18
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene. (12539217)
2003
19
Ganglioglioma of the lateral ventricle presenting with blepharospasm - case report and review of the literature. (11386809)
2001
20
Orbicularis oculi and orbicularis oris reflexes in blepharospasm and torticollis spasmodica during spasm-free intervals. (11528155)
2001
21
Superselective neurectomy with periorbital primary reconstruction for blepharospasm. Case report. (11020926)
2000
22
Ptosis, blepharospasm, and apraxia of eyelid opening secondary to putaminal hemorrhage. (10449142)
1999
23
Idiopathic blepharospasm does not lead to a parkinsonian syndrome: results of a questionnaire-based follow-up study. (10367696)
1999
24
Use of botulinum toxin A in the treatment of hemifacial spasm and blepharospasm. (10063705)
1999
25
Proton magnetic resonance spectroscopy in primary blepharospasm. (9748053)
1998
26
Pretarsal injections of botulinum toxin improve blepharospasm in previously unresponsive patients. (8648343)
1996
27
Multiple sclerosis leading to blepharospasm and dystonia in a sibling pair. (8892073)
1996
28
Bell's Palsy-associated blepharospasm relieved by aiding eyelid closure. (8967759)
1996
29
Effect of photic conditioning on blink reflex recovery function in blepharospasm. (8913199)
1996
30
Abnormal eye movements in blepharospasm and involuntary levator palpebrae inhibition. Clinical and pathophysiological considerations. (7820580)
1994
31
Auditory brain-stem responses in blepharospasm. (7681381)
1993
32
Memory-contingent saccades and the substantia nigra postulate for essential blepharospasm. (1998888)
1991
33
Blepharospasm associated with olivopontocerebellar atrophy. (2531169)
1989
34
Torticollis and blepharospasm in systemic lupus erythematosus. (2811894)
1989
35
Self-control training in blepharospasm. (2564073)
1989
36
Long-term results and complications of botulinum A toxin in the treatment of blepharospasm. (3211461)
1988
37
Surgical management of blepharospasm. (3278554)
1988
38
Etiology and differential diagnosis of blepharospasm and oromandibular dystonia. (3278535)
1988
39
Treatment of blepharospasm with botulinum A toxin. (3508221)
1987
40
Botulinum isn't just a poison anymore. Botulinum toxin in treatment of strabismus and essential blepharospasm. (3974563)
1985
41
Posttraumatic unilateral blepharospasm treated by selective facial neurectomy. (4011762)
1985
42
Blepharospasm and Meige syndrome: a review of diagnostic, aetiological and treatment approaches. (3920392)
1985
43
Blepharospasm, Meige syndrome, and hemifacial spasm: treatment with botulinum toxin. (4033932)
1985
44
Stretch reflex blepharospasm. (4022388)
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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Expression patterns in normal tissues for genes affiliated with Blepharospasm

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Pathways for genes affiliated with Blepharospasm

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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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Sources:
44Novoseek
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Compounds related to Blepharospasm according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1tyrosine448.5DRD5, TOR1A, TIMM8A, OMD

GO Terms for genes affiliated with Blepharospasm

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet