MCID: BLP003
MIFTS: 43

Blepharospasm malady

Categories: Neuronal diseases, Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Blepharospasm

Aliases & Descriptions for Blepharospasm:

Name: Blepharospasm 12 51 29 52 42 14 69

Classifications:



External Ids:

Disease Ontology 12 DOID:529
ICD10 33 G24.5
ICD9CM 35 333.81
MeSH 42 D001764
NCIt 47 C118723
UMLS 69 C0005747

Summaries for Blepharospasm

NINDS : 51 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 is related to cervical dystonia and oromandibular dystonia, and has symptoms including myoclonus, torticollis and spasmodic torticollis. An important gene associated with Blepharospasm is DRD5 (Dopamine Receptor D5). The drugs Acetylcholine and Cholinergic Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and thalamus.

Disease Ontology : 12 A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks.

Wikipedia : 71 Blepharospasm is any abnormal contraction or twitch of the eyelid. In most cases, symptoms last for a... more...

Related Diseases for Blepharospasm

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 80)
id Related Disease Score Top Affiliating Genes
1 cervical dystonia 30.3 GCH1 TOR1A
2 oromandibular dystonia 29.7 DRD5 GCH1 GNAL TOR1A
3 hemidystonia 28.8 GCH1 THAP1 TOR1A TSR2
4 blepharospasm, primary benign 12.3
5 meige syndrome 11.9
6 vernal keratoconjunctivitis 10.8
7 hemifacial spasm 10.5
8 dystonia 10.4
9 cervicitis 10.2
10 spastic paraplegia 15 10.1 THAP1 TOR1A
11 ectodermal dysplasia blindness 10.1 THAP1 TOR1A
12 apraxia 10.1
13 segmental dystonia 10.1 THAP1 TOR1A
14 spasmodic dystonia 10.0 DRD5 THAP1 TOR1A
15 lethal congenital contracture syndrome 1 9.9 GCH1 TOR1A
16 sleep apnea 9.9 GNAL THAP1 TOR1A
17 ampulla of vater clear cell adenocarcinoma 9.9 DRD5 HSPG2
18 specific language impairment 5 9.9 GCH1 TOR1A
19 cavernous hemangioma 9.9 GCH1 TOR1A
20 ptosis 9.9
21 bell's palsy 9.9
22 strabismus 9.9
23 spastic paraplegia 44, autosomal recessive 9.9 GCH1 TOR1A
24 focal hand dystonia 9.8 GCH1 THAP1 TOR1A
25 periampullary adenoma 9.8 GCH1 THAP1 TOR1A
26 myasthenia gravis 9.8
27 focal dystonia 9.8
28 headache 9.8
29 myoclonus 9.8
30 tremor 9.8
31 obstructive sleep apnea 9.7 DRD5 GCH1 THAP1 TOR1A
32 bartholin's gland transitional cell carcinoma 9.7 DRD5 GCH1 THAP1 TOR1A
33 schizophrenia 9.7
34 multiple system atrophy 9.7
35 entropion 9.7
36 spasticity 9.7
37 alpha thalassemia-x-linked intellectual disability syndrome 9.6 GCH1 HSPG2 THAP1 TOR1A
38 capos syndrome 9.6 GCH1 GNAL THAP1 TOR1A
39 systemic lupus erythematosus 9.5
40 cerebrotendinous xanthomatosis 9.5
41 essential tremor 9.5
42 obsessive-compulsive disorder 9.5
43 mohr-tranebjaerg syndrome 9.5
44 hydrocephalus 9.5
45 keratopathy 9.5
46 angiosarcoma 9.5
47 vitamin b12 deficiency 9.5
48 basal ganglia calcification 9.5
49 scoliosis 9.5
50 blepharophimosis 9.5

Graphical network of the top 20 diseases related to Blepharospasm:



Diseases related to Blepharospasm

Symptoms & Phenotypes for Blepharospasm

UMLS symptoms related to Blepharospasm:


myoclonus, torticollis, spasmodic torticollis, oromandibular dystonia

Drugs & Therapeutics for Blepharospasm

Drugs for Blepharospasm (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 4,Phase 3,Phase 2 51-84-3 187
2 Cholinergic Agents Phase 4,Phase 3,Phase 2
3 Neuromuscular Agents Phase 4,Phase 3,Phase 2
4 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
5 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
6 abobotulinumtoxinA Phase 4,Phase 3,Phase 2
7 incobotulinumtoxinA Phase 4,Phase 3,Phase 2
8 onabotulinumtoxinA Phase 4,Phase 3,Phase 2
9 Botulinum Toxins Phase 4,Phase 3,Phase 2,Phase 1
10 Botulinum Toxins, Type A Phase 4,Phase 3,Phase 2
11
Silicon Phase 4 7440-21-3 4082203
12 Pharmaceutical Solutions Phase 3
13
Etanercept Approved, Investigational Phase 1, Phase 2 185243-69-0
14
Mexiletine Approved Phase 2 31828-71-4 4178
15 Analgesics Phase 1, Phase 2
16 Gastrointestinal Agents Phase 1, Phase 2
17 Analgesics, Non-Narcotic Phase 1, Phase 2
18 Immunosuppressive Agents Phase 1, Phase 2
19 Anti-Inflammatory Agents Phase 1, Phase 2
20 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
21 Antirheumatic Agents Phase 1, Phase 2
22 Autoantibodies Phase 1, Phase 2
23 Sodium Channel Blockers Phase 2
24 Diuretics, Potassium Sparing Phase 2
25 Anti-Arrhythmia Agents Phase 2
26
Zinc Approved 7440-66-6 32051 23994
27
Prednisolone Approved, Vet_approved 50-24-8 5755
28
Cortisone acetate Approved 1950-04-4, 50-04-4 5745
29
Methylprednisolone Approved, Vet_approved 83-43-2 6741
30
Menthol Approved Early Phase 1 2216-51-5 16666
31 Trace Elements
32 Micronutrients
33
Cortisone 53-06-5 222786
34 Prednisolone acetate
35 Dihydroxyphenylalanine
36 Prednisolone hemisuccinate
37 Prednisolone phosphate
38 Methylprednisolone acetate
39 Methylprednisolone Hemisuccinate
40 Zinc Supplement Nutraceutical

Interventional clinical trials:

(show all 39)
id Name Status NCT ID Phase
1 Efficacy and Safety Study of Meditoxin® to Treat Essential Blepharospasm Completed NCT01259557 Phase 4
2 Comparison of Two Botulinum Type A Products in the Treatment of Blepharospasm Completed NCT00761592 Phase 4
3 A Retrospective Chart Review of BOTOX® and Xeomin® for the Management of Cervical Dystonia and Blepharospasm Completed NCT02245958 Phase 4
4 Efficacy of Aurosling in Frontalis Sling Suspension Surgery Completed NCT00753831 Phase 4
5 Post Marketing Surveillance Study of Dysport Completed NCT00210431 Phase 4
6 Comparison of Korean Botulinum Toxin Type A Versus Botox in the Treatment of Essential Blepharospasm Completed NCT00682760 Phase 3
7 Therapeutic Confirmatory Clinical Trial to Evaluate the Safety and Efficacy of "Hugeltox Inj." in Essential Blepharospasm Completed NCT01791881 Phase 3
8 IncobotulinumtoxinA (Xeomin) Versus Placebo in the Treatment of Blepharospasm Completed NCT00406367 Phase 3
9 Efficacy and Safety Study of Botulinum Toxin Type A Against Placebo to Treat Abnormal Contraction or Twitch of the Eyelid Completed NCT01896895 Phase 3
10 Safety and Efficacy of NABOTA in Treatment of Essential Blepharospasm Recruiting NCT02947815 Phase 2, Phase 3
11 Evaluation of Botulinum Toxin Injection Efficacy in the Treatment of Head Essential Tremor Recruiting NCT02555982 Phase 3
12 Effects of Botulinum Toxin Injections in Patients With Hereditary Spastic Paraplegia Active, not recruiting NCT02604186 Phase 2, Phase 3
13 ASIS for Enbrel in Plaque Psoriasis Unknown status NCT02112097 Phase 1, Phase 2
14 Study of a Single Administration of 3 Doses of Dysport® for the Treatment of Benign Essential Blepharospasm Completed NCT00234507 Phase 2
15 A Study of Acetyl Hexapeptide-8 (AH8) in Treatment of Blepharospasm Completed NCT00942851 Phase 1, Phase 2
16 Brain Stimulation to Treat Blepharospasm or Meige Syndrome Completed NCT00411255 Phase 2
17 Mexiletine for the Treatment of Focal Dystonia Completed NCT00001784 Phase 2
18 Deep Brain Stimulation in Patients With Dystonia Completed NCT00773604 Phase 1, Phase 2
19 Blepharospasm Short Interval Terminated NCT00507637 Phase 2
20 Acetyl Hexapeptide-8 for Blepharospasm Terminated NCT01750346 Phase 2
21 Comparison of Different Botulinum Toxin A Injection Patterns in the Treatment of Blepharospasm Unknown status NCT02327728
22 Influence of Gaze Shift and Emotions on Symptoms of Blepharospasm Unknown status NCT01759745
23 Testing the Effect of Zinc Supplementation to Improve the Treatment Effect of Botulinum Toxin for Oculofacial Spasm Unknown status NCT01546805
24 Trial Evaluating Xeomin® (incobotulinumtoxinA) for Cervical Dystonia or Blepharospasm in the United States Completed NCT01287247
25 Blepharospasm Patient Survey for Patients With Blepharospasm Completed NCT01686061
26 Brain Changes in Blepharospasm Completed NCT00500799
27 A Retrospective Chart Review of BOTOX® and Xeomin® for the Treatment of Cervical Dystonia and Blepharospasm Completed NCT01814774
28 Movement Disorder Survey in East China Completed NCT01168388
29 MDs on Botox Utility (MOBILITY) Completed NCT00535938
30 Botulinum Toxin in the Treatment of Raynaud's Completed NCT01233999
31 Cognitive Function and Emotional Possessing in Bilateral Facial Palsy Completed NCT02179450
32 Neurophysiological Markers in Patients With Craniofacial Dystonia and Their Relatives Completed NCT00082615
33 Blepharospasm Tools Recruiting NCT02780336
34 rTMS and Botulinum Toxin in Benign Essential Blepharospasm Recruiting NCT02370875
35 The Dystonia Coalition Natural History and Biospecimen Repository for Isolated Dystonias Recruiting NCT01373424
36 Botulinum Toxin A Versus Steroids for the Treatment of Chronic Plantar Fasciitis Recruiting NCT02196155
37 An RCT of a Patient-initiated Treatment Service for BEB and HFS Active, not recruiting NCT02577224
38 Two Different Surgical Methods of Blepharospasm Not yet recruiting NCT02765113 Early Phase 1
39 Brain Changes in Blepharospasm Terminated NCT00487383

Search NIH Clinical Center for Blepharospasm

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: blepharospasm

Genetic Tests for Blepharospasm

Genetic tests related to Blepharospasm:

id Genetic test Affiliating Genes
1 Blepharospasm 29

Anatomical Context for Blepharospasm

MalaCards organs/tissues related to Blepharospasm:

39
Eye, Brain, Thalamus, Endothelial, Cortex, Globus Pallidus, Caudate Nucleus

Publications for Blepharospasm

Articles related to Blepharospasm:

(show top 50) (show all 562)
id Title Authors Year
1
Treatment of blepharospasm with apraclonidine. ( 28017248 )
2017
2
Sensory tricks in primary blepharospasm and idiopathic cervical dystonia. ( 28488615 )
2017
3
Language modulation of benign essential blepharospasm. ( 26990543 )
2016
4
Comparison of Two Botulinum Neurotoxin A Injection Patterns with or without the Medial Lower Eyelid in the Treatment of Blepharospasm. ( 26885381 )
2016
5
Erratum to: 'Effectiveness and cost-effectiveness of a patient-initiated botulinum toxin treatment model for blepharospasm and hemifacial spasm compared to standard care: study protocol for a randomised controlled trial'. ( 27439615 )
2016
6
Photophobia in primary headaches, in essential blepharospasm and in major depression. ( 27580344 )
2016
7
A novel ANO3 variant identified in a 53-year-old woman presenting with hyperkinetic dysarthria, blepharospasm, hyperkinesias, and complex motorA tics. ( 27919237 )
2016
8
Screening for Cognitive Impairments in Primary Blepharospasm. ( 27526026 )
2016
9
A cross-sectional structured survey of patients receiving botulinum toxin type A treatment for blepharospasm. ( 27423565 )
2016
10
Frontalis suspension surgery to treat patients with blepharospasm and eyelid opening apraxia: long-term results. ( 27816991 )
2016
11
Five-Year Retrospective Review of Cases with Benign Essential Blepharospasm and Hemifacial Spasm Presenting in a Tertiary Eye Care Center in North India. ( 27078720 )
2016
12
Edrophonium Challenge Test for Blepharospasm. ( 27375406 )
2016
13
Orbicularis Oculi Myectomy as a Treatment for Blepharospasm in a Case of Schwartz Jampel Syndrome. ( 27621795 )
2016
14
Role of GABAergic System in Blepharospasm. ( 27533531 )
2016
15
Botulinum Toxin Treatment of Blepharospasm, Orofacial/Oromandibular Dystonia, and Hemifacial Spasm. ( 26866500 )
2016
16
Blepharospasm: an uncommon adverse effect caused by long-term administration of olanzapine. ( 27658142 )
2016
17
Sexual Well-Being in Patients with Blepharospasm, Spasmodic Torticollis, and Hemifacial Spasm: A Pilot Study. ( 27761118 )
2016
18
Chewing-induced blepharospasm in Parkinson's disease. ( 27871438 )
2016
19
Pallidal stimulation for medically intractable blepharospasm. ( 27033410 )
2016
20
Cost-Effectiveness of Incobotulinumtoxin-A with Flexible Treatment Intervals Compared to Onabotulinumtoxin-A in the Management of Blepharospasm and Cervical Dystonia. ( 27021747 )
2016
21
Alleviating Maneuvers for Benign Essential Blepharospasm and Hemifacial Spasm. ( 27607413 )
2016
22
Effectiveness and cost-effectiveness of a patient-initiated botulinum toxin treatment model for blepharospasm and hemifacial spasm compared to standard care: study protocol for a randomised controlled trial. ( 26961367 )
2016
23
Blepharospasm in a multiplex African-American pedigree. ( 26944167 )
2016
24
Objective, computerized video-based rating of blepharospasm severity. ( 27770067 )
2016
25
Blepharospasm: Update on Epidemiology, Clinical Aspects, and Pathophysiology. ( 27064462 )
2016
26
Transcranial direct current stimulation for patients with benign essential blepharospasm: a case report. ( 27672032 )
2016
27
Grey Matter Microstructural Integrity Alterations in Blepharospasm Are Partially Reversed by Botulinum Neurotoxin Therapy. ( 27992533 )
2016
28
Role of GABAergic System in Blepharospasm: Response. ( 27533532 )
2016
29
Practice guideline update summary: Botulinum neurotoxin for the treatment of blepharospasm, cervical dystonia, adult spasticity, and headache: Report of the Guideline Development Subcommittee of the American Academy of Neurology. ( 27164716 )
2016
30
In vivo confocal microscopy of meibomian glands in primary blepharospasm: A prospective case-control study in a Chinese population. ( 27281086 )
2016
31
Changes in ocular higher-order aberrations following botulinum toxin treatment in patients with blepharospasm : BTX improves dry eye in patients with BEB. ( 27503401 )
2016
32
Prefrontal Hemodynamic Functions during a Verbal Fluency Task in Blepharospasm Using Multi-Channel NIRS. ( 26942579 )
2016
33
Kikuchi-Fujimoto disease presenting as brainstem encephalitis with secondary blepharospasm. ( 26933369 )
2016
34
Development and validation of a clinical scale for rating the severity of Blepharospasm. ( 25847472 )
2015
35
Systematic Literature Review of AbobotulinumtoxinA in Clinical Trials for Blepharospasm and Hemifacial Spasm. ( 26566457 )
2015
36
Botulinum toxin in the management of blepharospasm: current evidence and recent developments. ( 25922620 )
2015
37
Sun exposure is an environmental factor for the development of blepharospasm. ( 25904812 )
2015
38
Clinical Analysis of Patients with Primary Blepharospasm: A Report of 100 Cases in China. ( 25997849 )
2015
39
Benign Essential Blepharospasm is a Disorder of Neuroplasticity: Lessons From Animal Models. ( 26576017 )
2015
40
Corneal and Tear Film Changes After Botulinum Toxin-A in Blepharospasm or Hemifacial Spasm. ( 26075455 )
2015
41
Clinical outcomes of individualized botulinum neurotoxin type a injection techniques in patients with essential blepharospasm. ( 25829828 )
2015
42
Cost-Effectiveness of Incobotulinumtoxin-A With Flexible Treatment Intervals Compared to Onabotulinumtoxin-A In The Management of Blepharospasm And Cervical Dystonia. ( 26534253 )
2015
43
Benign Essential Blepharospasm-There Is More to It Than Just Blinking. ( 26576018 )
2015
44
Blepharospasm in children and adolescents. ( 26510653 )
2015
45
Treatment of Blepharospasm in Schwartz-Jampel Syndrome: Botulinum Toxin A Injection or Surgery. ( 26020714 )
2015
46
Changes in corneal aesthesiometry and the sub-basal nerve plexus in benign essential blepharospasm. ( 25904123 )
2015
47
A Survey of Current Blepharospasm Treatment Patterns Among Oculoplastic Surgeons. ( 25811162 )
2015
48
Clinical categorization of psychogenic blepharospasm. ( 25558013 )
2015
49
Blepharospasm in familial AD secondary to an APP mutation (V715M). ( 24677022 )
2014
50
Botulinum toxin and blink rate in patients with blepharospasm and increased blinking. ( 24963123 )
2014

Variations for Blepharospasm

ClinVar genetic disease variations for Blepharospasm:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 DRD5 DRD5, (CT/GT/GA)n undetermined variant Pathogenic

Expression for Blepharospasm

Search GEO for disease gene expression data for Blepharospasm.

Pathways for Blepharospasm

GO Terms for Blepharospasm

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

id Name GO ID Score Top Affiliating Genes
1 adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0007189 9.32 DRD5 GNAL
2 activation of adenylate cyclase activity GO:0007190 9.26 DRD5 GNAL
3 negative regulation of blood pressure GO:0045776 9.16 DRD5 GCH1
4 adenylate cyclase-activating dopamine receptor signaling pathway GO:0007191 8.96 DRD5 GNAL
5 chaperone-mediated protein transport GO:0072321 8.62 TIMM8A TOR1A

Sources for Blepharospasm

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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