BEB
MCID: BLP015
MIFTS: 26

Blepharospasm, Primary Benign (BEB) malady

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

Aliases & Classifications for Blepharospasm, Primary Benign

Aliases & Descriptions for Blepharospasm, Primary Benign:

Name: Blepharospasm, Primary Benign 54 13
Benign Essential Blepharospasm 50 25 51 66 69
Blepharospasm 50 69
Beb 50 66
Essential Blepharospasm 25
Primary Blepharospasm 25
Eyelid Twitching 25
Spasm of Eyelids 25

Characteristics:

HPO:

32
blepharospasm, primary benign:
Onset and clinical course middle age onset
Inheritance sporadic


Classifications:



External Ids:

OMIM 54 606798
MeSH 42 D001764

Summaries for Blepharospasm, Primary Benign

NIH Rare Diseases : 50 benign essential blepharospasm (beb) is a progressive neurological disorder characterized by abnormal blinking or spasms of the eyelids. it is a form of dystonia, a group of movement disorders involving uncontrolled tensing of the muscles (contractions), rhythmic shaking (tremors), and other involuntary movements. beb occurs in both men and women, although it is especially common in middle-aged women. initial symptoms include an increased frequency of blinking, dry eyes, and eye irritation. as the condition progresses, spasms of the muscles surrounding the eyes cause involuntary winking or squinting and increasing difficulty keeping eyes open, which can lead to vision impairment. in more than half of all people with beb, the symptoms affect other facial muscles and muscles in other areas of the body. when people with beb also experience involuntary muscle spasms affecting the tongue and jaw, this is known as meige syndrome. the cause of beb is unknown; however, some cases appear to run through families. although there is no cure for beb, symptoms can be treated using various methods including botulinum toxin injections.  last updated: 11/2/2016

MalaCards based summary : Blepharospasm, Primary Benign, also known as benign essential blepharospasm, is related to blepharospasm and aceruloplasminemia, and has symptoms including blepharospasm, myoclonus and torticollis. An important gene associated with Blepharospasm, Primary Benign is DRD5 (Dopamine Receptor D5). The drugs Acetylcholine and Cholinergic Agents have been mentioned in the context of this disorder. Affiliated tissues include eye and tongue.

Genetics Home Reference : 25 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.

OMIM : 54 Blepharospasm is a primary focal dystonia affecting the orbicularis oculi muscles, usually beginning in middle age.... (606798) more...

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.

UniProtKB/Swiss-Prot : 66 Benign essential blepharospasm: A primary focal dystonia affecting the orbicularis oculi muscles. Dystonia is defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. BEB usually begins in middle age. Initial symptoms include eye irritation and frequent blinking, progressing to involuntary spasms of eyelid closure. Patients have normal eyes. The visual disturbance is due solely to the forced closure of the eyelids. In severe cases, this can lead to functional blindness.

Related Diseases for Blepharospasm, Primary Benign

Diseases in the Blepharospasm family:

Blepharospasm, Primary Benign

Diseases related to Blepharospasm, Primary Benign via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 blepharospasm 11.5
2 aceruloplasminemia 10.8
3 hemifacial spasm 10.3
4 meige syndrome 9.9
5 dystonia 9.9
6 eye disease 9.8
7 entropion 9.8
8 epilepsy 9.8
9 idiopathic generalized epilepsy 9.8

Graphical network of the top 20 diseases related to Blepharospasm, Primary Benign:



Diseases related to Blepharospasm, Primary Benign

Symptoms & Phenotypes for Blepharospasm, Primary Benign

Symptoms by clinical synopsis from OMIM:

606798

Clinical features from OMIM:

606798

Human phenotypes related to Blepharospasm, Primary Benign:

32
id Description HPO Frequency HPO Source Accession
1 blepharospasm 32 HP:0000643

UMLS symptoms related to Blepharospasm, Primary Benign:


myoclonus, torticollis, spasmodic torticollis, oromandibular dystonia

Drugs & Therapeutics for Blepharospasm, Primary Benign

Drugs for Blepharospasm, Primary Benign (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 rTMS and Botulinum Toxin in Benign Essential Blepharospasm Recruiting NCT02370875
34 Blepharospasm Tools Recruiting NCT02780336
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, Primary Benign

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


Genetic Tests for Blepharospasm, Primary Benign

Anatomical Context for Blepharospasm, Primary Benign

MalaCards organs/tissues related to Blepharospasm, Primary Benign:

39
Eye, Tongue

Publications for Blepharospasm, Primary Benign

Variations for Blepharospasm, Primary Benign

ClinVar genetic disease variations for Blepharospasm, Primary Benign:

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

Expression for Blepharospasm, Primary Benign

Search GEO for disease gene expression data for Blepharospasm, Primary Benign.

Pathways for Blepharospasm, Primary Benign

GO Terms for Blepharospasm, Primary Benign

Sources for Blepharospasm, Primary Benign

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