BEB
MCID: BLP003
MIFTS: 45

Blepharospasm (BEB) malady

Neuronal diseases, Eye diseases categories

Summaries for Blepharospasm

About this section
Sources:
42NIH Rare Diseases, 43NINDS, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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

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

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


External Ids:

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

Related Diseases for Blepharospasm

About this section
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 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

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

606798

Drugs & Therapeutics for Blepharospasm

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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

About this section
Sources:
22GTR
See all sources

Genetic tests related to Blepharospasm:

id Genetic test Affiliating Genes
1 Blepharospasm22

Anatomical Context for Blepharospasm

About this section
Sources:
32MalaCards
See all sources

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

About this section

Publications for Blepharospasm

About this section
Sources:
50PubMed
See all sources

Articles related to Blepharospasm:

(show top 50)    (show all 491)
idTitleAuthorsYear
1
Successful integrative medicine case management of blepharospasm. (23046295)
2013
2
Resolution of blepharospasm after chronic subdural haematoma evacuation: A case report. (22327937)
2012
3
The left parietal lobe plays a role in the pathogenesis of blepharospasm? (21244581)
2011
4
Chronic (neuropathic) corneal pain and blepharospasm: five case reports. (21752546)
2011
5
Environmental risk factors and clinical phenotype in familial and sporadic primary blepharospasm. (21775731)
2011
6
Difference in response to botulinum toxin type A treatment between patients with benign essential blepharospasm and hemifacial spasm. (20456439)
2010
7
Photophobia in essential blepharospasm--a positron emission tomographic study. (20014062)
2010
8
Double-blind, randomized, comparative study of Meditoxin versus Botox in the treatment of essential blepharospasm. (19794937)
2009
9
Effectivity of Dysport in patients with blepharospasm and hemifacial spasm who experienced failure with Botox. (18751631)
2008
10
Influence of coffee drinking and cigarette smoking on the risk of primary late onset blepharospasm: evidence from a multicentre case control study. (17578856)
2007
11
Glucose hypermetabolism in the thalamus of patients with essential blepharospasm. (17325818)
2007
12
The evaluation of light sensitivity in benign essential blepharospasm. (16815254)
2006
13
A family study on primary blepharospasm. (16421132)
2006
14
Health-related quality of life in blepharospasm or hemifacial spasm. (15595940)
2005
15
Cannabinoid agonists in the treatment of blepharospasm--a case report study. (15159681)
2004
16
Advancement of the frontalis muscle for ptosis of the brow associated with essential blepharospasm. (15202667)
2004
17
A functional magnetic resonance imaging study in patients with benign essential blepharospasm. (12616082)
2003
18
Quantitative changes in botulinum toxin a treatment over time in patients with essential blepharospasm and idiopathic hemifacial spasm. (12834676)
2003
19
Comparison of preseptal and pretarsal injections of botulinum toxin in the treatment of blepharospasm and hemifacial spasm. (11954870)
2002
20
Epidemiology of primary blepharospasm. (11835433)
2002
21
The impact of blepharospasm and cervical dystonia on health-related quality of life and depression. (12140667)
2002
22
Ganglioglioma of the lateral ventricle presenting with blepharospasm - case report and review of the literature. (11386809)
2001
23
Blepharospasm and Hemifacial Spasm. (11096764)
2000
24
Anatomical reasons for problems after neurectomy for blepharospasm: a study in cadavers. (10756572)
2000
25
Blepharospasm induced by an LED flashlight. (10584689)
1999
26
Advanced neuroimaging methods in the study of movement disorders: dystonia and blepharospasm. (9750912)
1998
27
Effect of photic conditioning on blink reflex recovery function in blepharospasm. (8913199)
1996
28
Blepharospasm in association with a lower pontine lesion. (8614517)
1996
29
Blink reflex recovery curves in blepharospasm, torticollis spasmodica, and hemifacial spasm. (8538655)
1996
30
Pretarsal application of botulinum toxin for treatment of blepharospasm. (7673963)
1995
31
Comparison of therapeutic efficacies of type A and F botulinum toxins for blepharospasm: a double-blind, controlled study. (7898706)
1995
32
Abnormal eye movements in blepharospasm and involuntary levator palpebrae inhibition. Clinical and pathophysiological considerations. (7820580)
1994
33
Blepharospasm associated with neurocysticercosis. (1580205)
1992
34
Botulinum toxin for the treatment of blepharospasm and strabismus. (2219878)
1990
35
Saccadic eye movements in essential blepharospasm. (2391543)
1990
36
A familial syndrome of dystonia, blepharospasm, and pigmentary retinopathy. (2392218)
1990
37
Use of botulinum toxin to treat blepharospasm in a 16-year-old with a dystonic syndrome. (2712945)
1989
38
Blepharospasm-oromandibular dystonia syndrome (Meige's syndrome): clinical aspects. (3278555)
1988
39
Blepharospasm and cranial-cervical dystonia (Meige's syndrome): familial occurrence. (3344632)
1988
40
Use of botulinum toxin in blepharospasm and other facial spasms. (3618155)
1987
41
Benign essential blepharospasm treated with botulinum toxin. (3665023)
1987
42
Treatment of essential blepharospasm and hemifacial spasm by selective sections of the facial nerve. (3715241)
1986
43
Blepharospasm with basal ganglia lesions. (3741202)
1986
44
Posttraumatic unilateral blepharospasm treated by selective facial neurectomy. (4011762)
1985
45
Blepharospasm and Meige syndrome: a review of diagnostic, aetiological and treatment approaches. (3920392)
1985
46
Bank keratopathy after orbicularis extirpation for essential blepharospasm. (3985818)
1985
47
The use of botulinum toxin in blepharospasm. (4003489)
1985
48
Essential blepharospasm and implications of nursing. (3849044)
1985
49
Botulinum A toxin injection as a treatment for blepharospasm. (3977705)
1985
50
Treatment of essential blepharospasm. I. Comparison of facial nerve avulsion and eyebrow-eyelid muscle stripping procedure. (6696675)
1984

Genetic Variations for Blepharospasm

About this section

Expression for genes affiliated with Blepharospasm

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Blepharospasm

About this section

GO Terms for genes affiliated with Blepharospasm

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Blepharospasm

About this section
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