MCID: BLP003
MIFTS: 45

Blepharospasm malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases categories

Aliases & Classifications for Blepharospasm

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 42NINDS, 11DISEASES, 43Novoseek, 22GTR, 21Genetics Home Reference, 47Orphanet, 60UMLS, 33MeSH, 55SNOMED-CT, 27ICD9CM, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
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Blepharospasm, Aliases & Descriptions:

Name: Blepharospasm 9 41 42 11 43 22
Benign Essential Blepharospasm 41 21 42 47 60
Primary Blepharospasm 41 21 47
Essential Blepharospasm 21
 
Eyelid Twitching 21
Spasm of Eyelids 21
Beb 41


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
benign essential blepharospasm:
Age of onset: Adult


External Ids:

Disease Ontology9 DOID:529
MeSH33 D001764
ICD9CM27 333.81
Orphanet47 93955
MESH via Orphanet34 C535428, C567890
ICD10 via Orphanet26 G24.5
UMLS via Orphanet61 C2930898
ICD1025 G24.5

Summaries for Blepharospasm

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NINDS:42 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, and has symptoms including emg abnormality, photophobia and keratoconjunctivitis sicca. 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.

NIH Rare Diseases:41 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...

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 Suite gene sharing:

(show top 50)    (show all 103)
idRelated DiseaseScoreTop Affiliating Genes
1torsion dystonia30.6TOR1A
2focal dystonia30.2TIMM8A, TOR1A, DRD5
3mohr-tranebjaerg syndrome29.8TIMM8A, THAP1
4dystonia10.8
5hemifacial spasm10.8
6cervical dystonia10.6
7cervicitis10.6
8oromandibular dystonia10.5
9apraxia10.5
10blepharospasm, primary benign10.3
11mongolian spot10.2
12bell's palsy10.2
13ptosis10.2
14strabismus10.2
15blindness10.2
16myasthenia gravis10.1
17myoclonus10.1
18tremor10.1
19bipolar disorder10.1GNAL, DRD5
20eyelid disease10.1TOR1A, THAP1
21schizophrenia10.0
22cerebrotendinous xanthomatosis10.0
23neurodegeneration with brain iron accumulation 310.0
24multiple system atrophy10.0
25entropion10.0
26generalized dystonia10.0THAP1, TOR1A
27schwartz-jampel syndrome, type 19.9
28parkinson disease 7, autosomal recessive early-onset9.9
29systemic lupus erythematosus9.9
30dyschromatosis symmetrica hereditaria9.9
31dystonia 219.9
32treacher collins syndrome 19.9
33choreoacanthocytosis9.9
34dystonia 249.9
35obsessive-compulsive disorder9.9
36neurodegeneration with brain iron accumulation 19.9
37pyruvate dehydrogenase e1-alpha deficiency9.9
38rett syndrome9.9
39cerebral creatine deficiency syndrome 19.9
40migraine9.9
41maple syrup urine disease, type ii9.9
42urbach-wiethe disease9.9
43essential tremor9.9
44cerebellar ataxia9.9
45dystonia-1, torsion9.9
46myotonia congenita, atypical, acetazolamide-responsive9.9
47glutaricaciduria, type i9.9
48holoprosencephaly9.9
49hydrocephalus9.9
50keratopathy9.9

Graphical network of the top 20 diseases related to Blepharospasm:



Diseases related to blepharospasm

Symptoms for Blepharospasm

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Symptoms:

 47 (show all 12)
  • anomalies of eyes and vision
  • movement disorder
  • dystonia/torticollis/writer's cramp/blepharospasms
  • muscle anomalies
  • abnormal emg/electromyogram/electropmyography
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • xerophthalmia/dry eyes
  • photophobia
  • visual loss/blindness/amblyopia
  • tremor
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • autosomal dominant inheritance

HPO human phenotypes related to Blepharospasm:

(show all 6)
id Description Frequency HPO Source Accession
1 emg abnormality hallmark (90%) HP:0003457
2 photophobia typical (50%) HP:0000613
3 keratoconjunctivitis sicca typical (50%) HP:0001097
4 visual impairment occasional (7.5%) HP:0000505
5 tremor occasional (7.5%) HP:0001337
6 flexion contracture occasional (7.5%) HP:0001371

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:

31
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 518)
idTitleAuthorsYear
1
Changes in corneal aesthesiometry and the sub-basal nerve plexus in benign essential blepharospasm. (25904123)
2015
2
Blink reflex studies in postparalytic facial syndrome and blepharospasm: trigeminal and extratrigeminal somatosensory stimulation. (25462139)
2014
3
Transient blepharospasm, apraxia of eyelid opening, and hemidyskinesia following a right parietotemporal infarct. (24954061)
2014
4
Comparable Botulinum Toxin Outcomes between Primary and Secondary Blepharospasm: A Retrospective Analysis. (25562037)
2014
5
Prospective Study Evaluating IncobotulinumtoxinA for Cervical Dystonia or Blepharospasm: Interim Results from the First 145 Subjects with Cervical Dystonia. (23724362)
2013
6
A case of Bell's palsy associated with blepharospasm. (22494605)
2013
7
A resting state functional magnetic resonance imaging study of patients with benign essential blepharospasm. (23636105)
2013
8
Variability in the duration of the onset of idiopathic Parkinson's disease after essential blepharospasm. (23605608)
2013
9
Quantification of macular carotenoids using autofluorescence imaging in patients with photosensitive migraine and benign essential blepharospasm. (22332230)
2012
10
Twelve cases of drug-induced blepharospasm improved within 2 months of psychotropic cessation. (21753898)
2011
11
In the wink of an eye: nature and nurture in blepharospasm. (21775742)
2011
12
Upper lid orbicularis oculi muscle strip and sequential brow suspension with autologous fascia lata is beneficial for selected patients with essential blepharospasm. (18927593)
2009
13
A double-blind, randomized, crossover study of prosigne versus botox in patients with blepharospasm and hemifacial spasm. (17272968)
2007
14
Enhanced long-term potentiation-like plasticity of the trigeminal blink reflex circuit in blepharospasm. (16407569)
2006
15
Benign essential blepharospasm. (15970766)
2005
16
Health-related quality of life in blepharospasm or hemifacial spasm. (15595940)
2005
17
A patient with long-lasting attacks of bilateral 'blepharospasm', photophobia, lacrimation and rhinorrhoea. (14728711)
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
Ptosis, blepharospasm, and apraxia of eyelid opening secondary to putaminal hemorrhage. (10449142)
1999
22
Idiopathic blepharospasm does not lead to a parkinsonian syndrome: results of a questionnaire-based follow-up study. (10367696)
1999
23
Use of botulinum toxin A in the treatment of hemifacial spasm and blepharospasm. (10063705)
1999
24
Asymmetric predominantly ipsilateral blepharospasm and contralateral parkinsonism in an elderly patient with a right mesencephalic cyst. (9452338)
1998
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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Clinvar genetic disease variations for Blepharospasm:

6
id Gene Variation Type Significance SNP ID Assembly Location
1DRD5DRD5, (CT/GT/GA)nundetermined variantPathogenic

Expression for genes affiliated with Blepharospasm

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Search GEO for disease gene expression data for Blepharospasm.

Pathways for genes affiliated with Blepharospasm

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Pathways related to Blepharospasm according to GeneCards Suite gene sharing:

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:
43Novoseek
See all sources

Compounds related to Blepharospasm according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1tyrosine438.5DRD5, TOR1A, TIMM8A, OMD

GO Terms for genes affiliated with Blepharospasm

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Biological processes related to Blepharospasm according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1adenylate cyclase-activating dopamine receptor signaling pathwayGO:00071919.6DRD5, GNAL
2adenylate cyclase-activating G-protein coupled receptor signaling pathwayGO:00071899.6DRD5, GNAL
3response to amphetamineGO:00019759.5DRD5, GNAL
4activation of adenylate cyclase activityGO:00071909.3DRD5, GNAL

Products for genes affiliated with Blepharospasm

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Blepharospasm

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet