BEB
MCID: BLP048
MIFTS: 38

Blepharospasm, Benign Essential (BEB)

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

Aliases & Classifications for Blepharospasm, Benign Essential

MalaCards integrated aliases for Blepharospasm, Benign Essential:

Name: Blepharospasm, Benign Essential 57
Benign Essential Blepharospasm 53 25 54 74 72
Primary Blepharospasm 53 25 59
Obsolete: Benign Essential Blepharospasm 53 59
Blepharospasm, Primary Benign 57 13
Blepharospasm 53 72
Beb 53 74
Blepharospasm, Benign Essential, Susceptibility to 57
Essential Blepharospasm 25
Eyelid Twitching 25
Spasm of Eyelids 25

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
mean age of onset 56 years


HPO:

32
blepharospasm, benign essential:
Inheritance autosomal dominant inheritance sporadic
Onset and clinical course middle age onset


Classifications:



External Ids:

OMIM 57 606798
MeSH 44 D001764
Orphanet 59 ORPHA93955
UMLS 72 C0005747 C2930898

Summaries for Blepharospasm, Benign Essential

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. The signs and symptoms of benign essential blepharospasm usually appear in mid- to late adulthood and gradually worsen. The first symptoms of the condition include an increased frequency of blinking, dry eyes, and eye irritation that is aggravated by wind, air pollution, sunlight, and other irritants. These symptoms may begin in one eye, but they ultimately affect both eyes. As the condition progresses, spasms of the muscles surrounding the eyes cause involuntary winking or squinting. Affected individuals have increasing difficulty keeping their eyes open, which can lead to severe vision impairment. In more than half of all people with benign essential blepharospasm, the symptoms of dystonia spread beyond the eyes to affect other facial muscles and muscles in other areas of the body. When people with benign essential blepharospasm also experience involuntary muscle spasms affecting the tongue and jaw (oromandibular dystonia), the combination of signs and symptoms is known as Meige syndrome.

MalaCards based summary : Blepharospasm, Benign Essential, also known as benign essential blepharospasm, is related to lymphatic malformation 5 and schwartz-jampel syndrome, type 1, and has symptoms including myoclonus, oromandibular dystonia and torticollis. An important gene associated with Blepharospasm, Benign Essential is DRD5 (Dopamine Receptor D5). The drugs Silicon and incobotulinumtoxinA have been mentioned in the context of this disorder. Affiliated tissues include eye, tongue and brain, and related phenotype is blepharospasm.

NIH Rare Diseases : 53 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.

OMIM : 57 Blepharospasm is a form of primary focal dystonia affecting the orbicularis oculi muscles, usually beginning in middle age. Initial symptoms include eye irritation and frequent blinking, progressing to involuntary spasms of eyelid closure. In severe cases, this can lead to functional blindness (summary by Misbahuddin et al., 2002). (606798)

NINDS : 54 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 dystonia, 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 : 74 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, Benign Essential

Diseases in the Blepharospasm family:

Blepharospasm, Benign Essential

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

(showing 188, show less)
# Related Disease Score Top Affiliating Genes
1 lymphatic malformation 5 12.3
2 schwartz-jampel syndrome, type 1 11.5
3 aceruloplasminemia 11.5
4 dyt-thap1 11.5
5 corneal dystrophy, meesmann 11.2
6 vernal keratoconjunctivitis 11.2
7 x-linked dystonia-parkinsonism/lubag 11.2
8 dystonia 11.0
9 hemifacial spasm, familial 10.9
10 hemifacial spasm 10.9
11 ptosis 10.8
12 focal dystonia 10.7
13 cervical dystonia 10.7
14 movement disease 10.6
15 apraxia 10.6
16 oromandibular dystonia 10.6
17 torticollis 10.5
18 apraxia of eyelid opening 10.5
19 yemenite deaf-blind hypopigmentation syndrome 10.4
20 blepharospasm 10.4
21 tremor 10.4
22 strabismus 10.3
23 mechanical strabismus 10.3
24 focal, segmental or multifocal dystonia 10.3
25 supranuclear palsy, progressive, 1 10.3
26 bell's palsy 10.3
27 myasthenia gravis 10.2
28 eye disease 10.2
29 lagophthalmos 10.2
30 facial paralysis 10.2
31 keratitis, hereditary 10.2
32 migraine with or without aura 1 10.2
33 tardive dyskinesia 10.2
34 ataxia and polyneuropathy, adult-onset 10.2
35 headache 10.2
36 myoclonus 10.2
37 facial spasm 10.1
38 multiple system atrophy 1 10.1
39 obsessive-compulsive disorder 10.1
40 ectropion 10.1
41 tic disorder 10.1
42 dystonia 1, torsion, autosomal dominant 10.1
43 parkinson disease, late-onset 10.1
44 intraocular pressure quantitative trait locus 10.1
45 dry eye syndrome 10.1
46 paranoid schizophrenia 10.1
47 entropion 10.1
48 keratoconjunctivitis 10.1
49 exposure keratitis 10.1
50 dysphagia 10.1
51 encephalopathy 10.1
52 spasticity 10.1
53 seizures, benign familial neonatal, 1 10.0
54 epilepsy, idiopathic generalized 10.0
55 visual epilepsy 10.0
56 seizure disorder 10.0
57 autoimmune disease 10.0
58 systemic lupus erythematosus 10.0
59 3-methylglutaconic aciduria, type iii 10.0
60 thymoma, familial 10.0
61 astigmatism 10.0
62 chorea, childhood-onset, with psychomotor retardation 10.0
63 cranio-facial dystonia 10.0
64 sexual disorder 10.0
65 scoliosis 10.0
66 blepharophimosis 10.0
67 choreatic disease 10.0
68 generalized anxiety disorder 10.0
69 autosomal dominant cerebellar ataxia 10.0
70 kernicterus 10.0
71 thymoma 10.0
72 mood disorder 10.0
73 essential tremor 10.0
74 sleep disorder 10.0
75 pathologic nystagmus 10.0
76 cluster headache 10.0
77 depression 10.0
78 myotonia 10.0
79 breast cancer 9.8
80 spinocerebellar ataxia 31 9.8
81 dystonia 12 9.8
82 glaucoma, primary open angle 9.8
83 hand skill, relative 9.8
84 neurofibromatosis, type i 9.8
85 neurofibromatosis, type iv, of riccardi 9.8
86 polykaryocytosis inducer 9.8
87 trigeminal neuralgia 9.8
88 cerebrotendinous xanthomatosis 9.8
89 parkinson disease 15, autosomal recessive early-onset 9.8
90 wilson disease 9.8
91 mohr-tranebjaerg syndrome 9.8
92 kearns-sayre syndrome 9.8
93 chromosome 18q deletion syndrome 9.8
94 dystonia 7, torsion 9.8
95 xanthomatosis 9.8
96 branchiootic syndrome 1 9.8
97 dystonia 6, torsion 9.8
98 meningioma, radiation-induced 9.8
99 meningioma, familial 9.8
100 dystonia 13, torsion, autosomal dominant 9.8
101 anxiety 9.8
102 major depressive disorder 9.8
103 dystonia 16 9.8
104 dystonia 24 9.8
105 striatal degeneration, autosomal dominant 2 9.8
106 angiosarcoma 9.8
107 vitamin b12 deficiency 9.8
108 autosomal recessive disease 9.8
109 multifocal dystonia 9.8
110 segmental dystonia 9.8
111 hemidystonia 9.8
112 aphasia 9.8
113 stuttering 9.8
114 cardiac arrest 9.8
115 cysticercosis 9.8
116 suppression amblyopia 9.8
117 amblyopia 9.8
118 open-angle glaucoma 9.8
119 paralytic squint 9.8
120 hydrocephalus 9.8
121 hemiplegia 9.8
122 prostatic hypertrophy 9.8
123 enophthalmos 9.8
124 schizophreniform disorder 9.8
125 tetanus 9.8
126 lens subluxation 9.8
127 spinal meningioma 9.8
128 fuchs' endothelial dystrophy 9.8
129 mononeuropathy 9.8
130 dysthymic disorder 9.8
131 punctate epithelial keratoconjunctivitis 9.8
132 spastic entropion 9.8
133 telangiectasis 9.8
134 hypochondriasis 9.8
135 keratoconjunctivitis sicca 9.8
136 acute closed-angle glaucoma 9.8
137 olivopontocerebellar atrophy 9.8
138 communicating hydrocephalus 9.8
139 mental depression 9.8
140 optic nerve disease 9.8
141 hyperuricemia 9.8
142 bardet-biedl syndrome 9.8
143 keratopathy 9.8
144 bruxism 9.8
145 complex regional pain syndrome 9.8
146 pseudohypoparathyroidism 9.8
147 brain stem glioma 9.8
148 secretory meningioma 9.8
149 lymphoplasmacyte-rich meningioma 9.8
150 benign ependymoma 9.8
151 ganglioglioma 9.8
152 schizoaffective disorder 9.8
153 conjunctivitis 9.8
154 severe combined immunodeficiency 9.8
155 cerebellopontine angle meningioma 9.8
156 basal ganglia disease 9.8
157 cataract 9.8
158 retinal degeneration 9.8
159 herpes zoster 9.8
160 lupus erythematosus 9.8
161 rosacea 9.8
162 narcolepsy 9.8
163 speech disorder 9.8
164 blepharitis 9.8
165 encephalitis 9.8
166 episodic ataxia 9.8
167 lingual-facial-buccal dyskinesia 9.8
168 48,xyyy 9.8
169 congenital hydrocephalus 9.8
170 corticobasal degeneration 9.8
171 ependymoma 9.8
172 glioma 9.8
173 hemiplegic migraine 9.8
174 orbital varix 9.8
175 spasmodic dysphonia 9.8
176 supranuclear ocular palsy 9.8
177 anoxia 9.8
178 chronic pain 9.8
179 hypertonia 9.8
180 postherpetic neuralgia 9.8
181 psychogenic movement 9.8
182 swallowing disorders 9.8
183 posttransplant acute limbic encephalitis 9.8
184 glial tumor 9.8
185 isolated dystonia 9.8
186 obsolete: autosomal dominant focal dystonia, dyt7 type 9.8
187 obsolete: laryngeal dyskinesia 9.8
188 multiple system atrophy, parkinsonian type 9.8

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



Diseases related to Blepharospasm, Benign Essential

Symptoms & Phenotypes for Blepharospasm, Benign Essential

Human phenotypes related to Blepharospasm, Benign Essential:

32 (showing 1, show less)
# Description HPO Frequency HPO Source Accession
1 blepharospasm 32 HP:0000643

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
eye irritation
frequent blinking
involuntary spasms of eyelid closure (blepharospasm)

Neurologic Central Nervous System:
dystonia, focal, limited to orbicularis oculi muscle (blepharospasm)

Clinical features from OMIM:

606798

UMLS symptoms related to Blepharospasm, Benign Essential:


myoclonus, oromandibular dystonia, torticollis, lingual dystonia, erythema of the eyelids, spasmodic torticollis

Drugs & Therapeutics for Blepharospasm, Benign Essential

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

(showing 47, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Silicon Approved, Investigational Phase 4 7440-21-3 4082203
2 incobotulinumtoxinA Phase 4
3 abobotulinumtoxinA Phase 4
4 Neuromuscular Agents Phase 4
5 Peripheral Nervous System Agents Phase 4
6 Botulinum Toxins, Type A Phase 4
7 rimabotulinumtoxinB Phase 4
8 Pharmaceutical Solutions Phase 3
9
Etanercept Approved, Investigational Phase 1, Phase 2 185243-69-0
10
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178
11 Anti-Inflammatory Agents Phase 1, Phase 2
12 Analgesics Phase 1, Phase 2
13 Analgesics, Non-Narcotic Phase 1, Phase 2
14 Gastrointestinal Agents Phase 1, Phase 2
15 Anti-Inflammatory Agents, Non-Steroidal Phase 1, Phase 2
16 Immunosuppressive Agents Phase 1, Phase 2
17 Autoantibodies Phase 1, Phase 2
18 Antirheumatic Agents Phase 1, Phase 2
19 Immunologic Factors Phase 1, Phase 2
20 Sodium Channel Blockers Phase 2
21 Diuretics, Potassium Sparing Phase 2
22 Anti-Arrhythmia Agents Phase 2
23
Zinc Approved, Investigational 7440-66-6 32051
24
Carbamazepine Approved, Investigational 298-46-4 2554
25
Prednisolone phosphate Approved, Vet_approved 302-25-0
26
Methylprednisolone Approved, Vet_approved 83-43-2 6741
27
Methylprednisolone hemisuccinate Approved 2921-57-5
28
Prednisolone Approved, Vet_approved 50-24-8 5755
29
Acetylcholine Approved, Investigational 51-84-3 187
30
Cortisone Experimental 53-06-5 222786
31
Prednisolone hemisuccinate Experimental 2920-86-7
32 Micronutrients
33 Nutrients
34 Zinc Supplement
35 Trace Elements
36 Ophthalmic Solutions
37 Dihydroxyphenylalanine
38 Anticonvulsants
39 Prednisolone acetate
40 Methylprednisolone Acetate
41 Neurotransmitter Agents
42 Cholinergic Agents
43 Acetylcholine Release Inhibitors
44 Botulinum Toxins
45 Anesthetics, Local
46 Lidocaine, Prilocaine Drug Combination
47 Anesthetics

Interventional clinical trials:

(showing 61, show less)
# Name Status NCT ID Phase Drugs
1 DOUBLE BLIND, PLACEBO CONTROLLED, RANDOMIZED CLINICAL TRIAL OF THE SAFETY AND EFFICACY OF BOTULINUM TOXIN TYPE A (BOTOX) IN BRUXISM Unknown status NCT00908050 Phase 4 Botulinum toxin type A
2 An Open-Label Pilot Study to Compare the Efficacy of Escalating Doses of IncobotulinumtoxinA (Xeomin®) in the Treatment of Glabellar Rhytids Unknown status NCT01583478 Phase 4
3 The Impact of Botulinum Toxin Injection in the Frontalis on Brow Height and Morphology: A Randomized Trial Unknown status NCT03186001 Phase 4 Abobotulinum toxin A
4 Multi-center, Phase Ⅳ, Single Arm, Open-label Clinical Trial to Evaluate the Efficacy and Safety of Meditoxin® in Subjects With Essential Blepharospasm Completed NCT01259557 Phase 4 Botulinum Toxin Type A
5 Multi-center, Single Arm, Open-label, Phase IV Clinical Trial to Evaluate the Efficacy and Safety of Botulax® in Patients With Essential Blepharospasm Completed NCT03641950 Phase 4 Botulinum toxin type A
6 Comparison of Two Botulinum Type A Products in the Treatment of Blepharospasm Completed NCT00761592 Phase 4
7 Randomized, Double Blind, Active Controlled Study of the Efficacy, Surgical Outcome and Complications of Silicone Rod Sling in Frontalis Sling Suspension Surgery Completed NCT00753831 Phase 4
8 Pretarsal Versus Preseptal Botulinum Toxin for Patients With Eyelid Spasm: a Randomized, Triple-blind, Placebo-controlled, Cross-over Clinical Trial Completed NCT03508882 Phase 4 Botulinum Toxin Type A 100Unit/Vial (Product);Saline Solution for Injection
9 Measuring the Functional Effects of Botox on the Brain Using MR Spectroscopy and fMRI Completed NCT03373162 Phase 4 onabotulinumtoxinA
10 An Open Label Evaluation of MIDI to Quantify Performance Change in Subjects With Musician's Dystonia After Treatment With Botulinum Toxin Type B (Myobloc ®). Completed NCT00208091 Phase 4 Botulinum toxin, type B
11 A Double Blinded Randomized Controlled Trial to Compare the Efficacy, Time to Onset, and Duration of Two Botulinum Type A Exotoxins (Onabotulinum Toxin A and Abobotulinum Toxin A) in the Treatment of "Crow's Feet." Completed NCT01529788 Phase 4 Right lateral orbital injection of Botox Cosmetic or Dysport;Left lateral orbital injection of Botox Cosmetic or Dysport
12 Comparison of Efficacy of 250 Units Versus 500 Units of Botulinum Toxin in the Treatment of Refractory Vaginismus Unknown status NCT00638066 Phase 3 botulinum toxin;botulinum toxin A
13 Evaluation of Botulinum Toxin Injection Efficacy in the Treatment of Head Essential Tremor by a Multi-center, Randomized, Double-Blind, Parallel-group, Placebo-controlled Study Unknown status NCT02555982 Phase 3 BOTOX ® 200 Unités;Placebo
14 A Multicenter, Double-blind, Randomized, Parallel, Active-controlled, Phase III Study to Evaluate the Efficacy and Safety of NEURONOX® vs. BOTOX® in Patients With Essential Blepharospasm Completed NCT03216473 Phase 3 Neuronox;Botox
15 A Randomized, Double Blind, Multi-center, Active Drug Controlled, Phase II/III Clinical Trial to Compare the Safety and Efficacy of NABOTA Versus BOTOX in Treatment of Essential Blepharospasm Completed NCT02947815 Phase 2, Phase 3 Clostridium Botulinum Toxin Type A;Clostridium Botulinum Toxin Type A
16 Double-blinded, Randomized, Active Control Comparative, Parallel-designed, Phase III Clinical Trial: Therapeutic Confirmatory Clinical Trial to Evaluate the Safety and Efficacy of "Hugeltox Inj." In Essential Blepharospasm Running Parallel With Phase I Study Completed NCT01791881 Phase 3 Hugeltox;Botulinum Toxin Type A(Botox®)
17 Double-Blind, Randomized, Phase 3, Comparative Study of a New Botulinum Toxin Type A Versus Botox in the Treatment of Essential Blepharospasm Completed NCT00682760 Phase 3 Korean Botulinum toxin type A (KbtxA) and Botox injection
18 Prospective, Double-blind, Placebo-controlled, Randomized, Multi-center Trial With an Open-label Extension Period to Investigate the Efficacy and Safety of incobotulinumtoxinA (Xeomin) in the Treatment of Blepharospasm Completed NCT00406367 Phase 3 incobotulinumtoxinA (Xeomin);Placebo
19 Prospective, Double-blind, Placebo-controlled, Randomized, Parallel-group, Multi-center Study With an Open-label Extension Period to Investigate the Efficacy and Safety of Two Different Doses of NT 201 in Botulinum Toxin Treatment-naïve Subjects With Blepharospasm Completed NCT01896895 Phase 3 IncobulinumtoxinA (Xeomin), 25 Units;IncobotulinumtoxinA (Xeomin), 12.5 Units;Placebo;IncobotulinumtoxinA (Xeomin), 35 Units
20 Efficacy and Safety of Xeomin for the Treatment of Notalgia Paresthetica Completed NCT01098019 Phase 3 Xeomin;Placebo / Xeomin
21 Botulinum Toxin in Patients With Hereditary Spastic Paraplegia: a Randomized, Double-blind, Placebo-controlled, Crossover Study Completed NCT02604186 Phase 2, Phase 3
22 Use of Botulinum Toxin (BTX) for the Treatment of Peripheral Painful Traumatic Trigeminal Neuropathy (PPTTN) Recruiting NCT03555916 Phase 3 BOTOX®, Allergan;Placebo
23 A 48-Week Prospective, Double-Blinded, Randomized, Cross-over Design in Multicenter Study of 250 Unit of Dysport Versus 50 Unit of Neuronox Injection For Cervical Dystonia in Thai Patients Not yet recruiting NCT03805152 Phase 3 Neuronox(R);Dysport (R)
24 ASIS for Enbrel in Plaque Psoriasis Unknown status NCT02112097 Phase 1, Phase 2 Gadolinium;Gadolinium;Gadolinium;Efficacy of Enbrel subcutaneously at Week 12;Efficacy of Enbrel subcutaneously at Week 24;Efficacy of Enbrel subcutaneously at Week 36;Efficacy of Enbrel subdermally at Week 12;Efficacy of Enbrel subdermally at Week 24;Efficacy of Enbrel subdermally at Week 36;PASI 75 n(%) subcutaneously at Week 12;PASI 75 n(%) subcutaneously at Week 24;PASI 75 n(%) subcutaneously at Week 36;PASI 75 n(%) subdermally at Week 12;PASI 75 n(%) subdermally at Week 24;PASI 75 n(%) subdermally at Week 36;Adverse Reactions of Enbrel subcutaneously;Adverse Reactions of Enbrel subdermally at Week 36;Gadolinium;Gadolinium;Gadolinium
25 Phase II, Multi-centre, Randomised, Double-blind, Parallel Group, Placebo-controlled Study to Assess the Efficacy and Safety of a Single Administration, by Subcutaneous Injection, of Three Doses of Dysport (40 Units/Eye, 80 Units/Eye, and 120 Units/Eye) for the Treatment of Benign Essential Blepharospasm Completed NCT00234507 Phase 2
26 A Study of Acetyl Hexapeptide-8 (AH8) in Treatment of Blepharospasm Completed NCT00942851 Phase 1, Phase 2 Acetyl-Hexapeptide Topical Treatment;placebo
27 Blepharospasm and the Experimental Modulation of Cortical Excitability in Primary and Secondary Motor Areas. A Pilot Study. Completed NCT00411255 Phase 2
28 Mexiletine for the Treatment of Focal Dystonia Completed NCT00001784 Phase 2 Mexiletine
29 Placebo Controlled Double Blind Study of Acetyl Hexapeptide-8 in Treatment of Blepharospasm Terminated NCT01750346 Phase 2 Topical acetyl hexapeptide-8;Placebo
30 Prospective, Open-label, Single-arm, Single-center Trial to Investigate the Tolerability of NT 201 and Quality of Life of Patients in the Treatment of Blepharospasm With Shortened Injection Intervals Terminated NCT00507637 Phase 2 NT 201
31 Comparison of Different Botulinum Toxin A Injection Patterns in the Treatment of Blepharospasm Unknown status NCT02327728 Botulinum toxin A 12.5U;Botulinum toxin A 10U
32 Effect of Two Different Surgical Methods on the Prognosis of Patients With Blepharospasm Unknown status NCT02765113 Early Phase 1
33 The Effect of Zinc Supplementation on the Efficacy and Duration of Botulinum Toxin for the Treatment of Oculofacial Spasm Disorders Unknown status NCT01546805 Zinc Supplement;Sugar pill
34 A Randomised Controlled Trial to Explore the Effectiveness and Cost-effectiveness of a Patient-initiated Botulinum Toxin Treatment Model for Blepharospasm and Hemifacial Spasm Compared to Treatment as Usual Unknown status NCT02577224
35 The Influence of Gaze Shift and Emotions on Symptoms of Blepharospasm- a Pilot Study. Unknown status NCT01759745
36 Combined Effects of rTMS and Botulinum Toxin in Benign Essential Blepharospasm: A Novel Approach Completed NCT02370875
37 Role of the Cortical Medial Frontal Areas in Blepharospasm Completed NCT00500799
38 Blepharospasm Patient Survey: A Structured Interview Evaluating Previous and Current incobotulinumtoxinA, abobotulinumtoxinA and onabotulinumtoxinA Treatment for Patients With Blepharospasm Completed NCT01686061
39 A Retrospective Chart Review of BOTOX® and Xeomin® for the Treatment of Cervical Dystonia and Blepharospasm Completed NCT01814774
40 A Retrospective Chart Review of BOTOX® and Xeomin® for the Management of Cervical Dystonia and Blepharospasm Completed NCT02245958
41 A Post Marketing Surveillance Study of Dysport Formulated With a Batch of Bulk Active Substance From a New Primary Manufacturing Facility at the Centre for Applied Microbiology & Research. Completed NCT00210431
42 MDs on Botox Utility (MOBILITY) Completed NCT00535938
43 Diagnostic and Rating Tools for Blepharospasm Completed NCT02780336
44 Movement Disorder Survey in East China Completed NCT01168388
45 Prospective, Observational Trial Evaluating Xeomin®(incobotulinumtoxinA) for Cervical Dystonia or Blepharospasm in the United States Completed NCT01287247
46 Clinical Trial of a Mechanical Device for the Treatment of Blepharospasm Completed NCT03269123
47 Subthalamic Nucleus (STN) Deep Brain Stimulation (DBS) in Patients With Dystonia Completed NCT00773604
48 Botulinum Toxin in the Treatment of Raynaud's Completed NCT01233999 botulinum toxin A
49 Neurophysiological Markers in Patients With Craniofacial Dystonia and Their Relatives Completed NCT00082615
50 Efficacy of Botulinum Toxin A Intradetrusor Injections for the Treatment of Non-neurogenic Urinary Urge Incontinence- A Randomized Double-Blind Control Trial Completed NCT01226706 Botulinum Toxins, Type A;Placebos
51 The Role of the Upper Colliculus in the Idiopathic Blepharospasm : a Pilot Study in Functional MRI Recruiting NCT03903341
52 Effect of Lipid Based Eye Drops on Tear Film Lipid Layer Thickness in Subjects With Dry Eye Disease, Meibomian Gland Dysfunction, Blepharospasm and Healthy Subjects - a Pilot Study Recruiting NCT03399292 Cationorm MD sine eye drops
53 Natural History and Biospecimen Repository for Dystonia; Comprehensive Rating Tools for Cervical Dystonia; Validity & Reliability of Diagnostic Methods & Measures of Spasmodic Dysphonia Recruiting NCT01373424
54 HLA Screening in Reducing the Risk of Antiepileptic Drug-induced Cutaneous Adverse Reactions: a Multicenter Clinical Study Recruiting NCT03184597
55 Botulinum Toxin A Versus Steroids for the Treatment of Chronic Plantar Fasciitis: a Randomized Controlled Study Recruiting NCT02196155 Botulinum toxin A;cortisone;Saline
56 Biomarker for Cystinosis Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02837523
57 Functional Connectivity of the Basal Ganglia in Primary Focal Dystonia Active, not recruiting NCT01761903
58 Analyse de la Marche de Patients Atteints de Dystonie Focale Avant et après Traitement Par Toxine Botulique Not yet recruiting NCT03938363 Botulinum Toxin injection
59 Jitter's Recording in a Spastic Muscle Treated by Botulinum Toxin Not yet recruiting NCT04002843
60 Suppression and Facilitation of the Motor Cortex by Stimulation of the Cerebellum in Patients With Dystonia and Healthy Controls Terminated NCT00487383
61 Study of the Photic Blink Reflex in Patients With Blepharospasm and Increased Blinking Terminated NCT03263000

Search NIH Clinical Center for Blepharospasm, Benign Essential

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Botulinum Toxin Type A
Cyproheptadine
Cyproheptadine hydrochloride
CYPROHEPTADINE HYDROCHLORIDE MONOHYDRATE

Genetic Tests for Blepharospasm, Benign Essential

Anatomical Context for Blepharospasm, Benign Essential

MalaCards organs/tissues related to Blepharospasm, Benign Essential:

41
Eye, Tongue, Brain, Cortex, Cerebellum, Subthalamic Nucleus, Skeletal Muscle

Publications for Blepharospasm, Benign Essential

Articles related to Blepharospasm, Benign Essential:

(showing 146, show less)
# Title Authors PMID Year
1
Animal model explains the origins of the cranial dystonia benign essential blepharospasm. 38 8
9163399 1997
2
Environmental risk factors and clinical phenotype in familial and sporadic primary blepharospasm. 8
21775731 2011
3
Candidate gene studies in focal dystonia. 8
14581671 2003
4
Role of the dopamine D5 receptor (DRD5) as a susceptibility gene for cervical dystonia. 71
12700316 2003
5
A polymorphism in the dopamine receptor DRD5 is associated with blepharospasm. 8
11781417 2002
6
Cloning of the human dopamine D5 receptor gene and identification of a highly polymorphic microsatellite for the DRD5 locus that shows tight linkage to the chromosome 4p reference marker RAF1P1. 71
8288248 1993
7
[Therapy of Benign Essential Blepharospasm with Botulinum Toxin]. 38
30970386 2019
8
Effects of Repeated Eyelid Injections with Botulinum Toxin A on Innervation of Treated Muscles in Patients with Blepharospasm. 38
30380945 2019
9
Long-term outcome of flexible onabotulinum toxin A treatment in facial dystonia. 38
30202071 2019
10
Botulinum toxin relieves anxiety and depression in patients with hemifacial spasm and blepharospasm. 38
30587995 2019
11
Sensory Trick Frames: A New Device for Blepharospasm Patients. 38
30642155 2019
12
Increased pupillary constriction velocity in benign essential blepharospasm associated with photophobia. 38
31163059 2019
13
Quality of life in idiopathic dystonia: a systematic review. 38
30460447 2018
14
Clinical Features of Benign Essential Blepharospasm in Korean Patients. 38
30311455 2018
15
Developments in the treatment of benign essential blepharospasm. 38
29916840 2018
16
Chemodenervation for the Treatment of Facial Dystonia: A Report by the American Academy of Ophthalmology. 38
29653859 2018
17
Botulinum toxin injection and tear production. 38
29994851 2018
18
Effect of Botulinum Toxin A Treatment on Eyelid Pressure in Eyes with Blepharospasm. 38
29641935 2018
19
Combined effects of rTMS and botulinum toxin therapy in benign essential blepharospasm. 38
29530449 2018
20
Increase lipid tear thickness after botulinum neurotoxin A injection in patients with blepharospasm and hemifacial spasm. 38
29849166 2018
21
Injecting botulinum toxin into the treatment of blepharospasm. 38
30206561 2018
22
The Facial Nerve and Selective Neurectomy for Treatment of Benign Essential Blepharospasm. 38
29239881 2018
23
Benign Essential Blepharospasm: What We Know and What We Don't. 38
29239874 2018
24
The Benign Essential Blepharospasm Research Foundation. 38
29239875 2018
25
Oral Pharmacotherapy for Benign Essential Blepharospasm. 38
29239876 2018
26
Epidemiology of benign essential blepharospasm: A nationwide population-based retrospective study in Taiwan. 38
30586395 2018
27
A comparative crossover study on the treatment of hemifacial spasm and blepharospasm: preseptal and pretarsal botulinum toxin injection techniques. 38
28884242 2017
28
Medical Cannabis, a Beneficial High in Treatment of Blepharospasm? An Early Observation. 38
29339959 2017
29
Comparison of Safety and Efficacy of Botox and Neuronox in the Management of Benign Essential Blepharospasm: A Split-face Study. 38
29022290 2017
30
Five-Year Retrospective Review of Cases with Benign Essential Blepharospasm and Hemifacial Spasm Presenting in a Tertiary Eye Care Center in North India. 38
27078720 2017
31
Surgical approach to limiting skin contracture following protractor myectomy for essential blepharospasm. 38
29403334 2017
32
A Dynamic Circuit Hypothesis for the Pathogenesis of Blepharospasm. 38
28326032 2017
33
Transcranial direct current stimulation for patients with benign essential blepharospasm: a case report. 38
27672032 2017
34
Changes in ocular higher-order aberrations following botulinum toxin treatment in patients with blepharospasm : BTX improves dry eye in patients with BEB. 38
27503401 2016
35
Use of Alleviating Maneuvers for Periocular Facial Dystonias. 38
27606483 2016
36
Alleviating Maneuvers for Benign Essential Blepharospasm and Hemifacial Spasm. 38
27607413 2016
37
Language modulation of benign essential blepharospasm. 38
26990543 2016
38
Blepharospasm in children and adolescents. 38
26510653 2016
39
A Survey of Current Blepharospasm Treatment Patterns Among Oculoplastic Surgeons. 38
25811162 2016
40
Comparison of Two Botulinum Neurotoxin A Injection Patterns with or without the Medial Lower Eyelid in the Treatment of Blepharospasm. 38
26885381 2016
41
Grey Matter Microstructural Integrity Alterations in Blepharospasm Are Partially Reversed by Botulinum Neurotoxin Therapy. 38
27992533 2016
42
Benign Essential Blepharospasm--There Is More to It Than Just Blinking. 38
26576018 2015
43
Benign Essential Blepharospasm is a Disorder of Neuroplasticity: Lessons From Animal Models. 38
26576017 2015
44
Changes in corneal aesthesiometry and the sub-basal nerve plexus in benign essential blepharospasm. 38
25904123 2015
45
Corneal and Tear Film Changes After Botulinum Toxin-A in Blepharospasm or Hemifacial Spasm. 38
26075455 2015
46
Oral methylphenidate for the treatment of refractory facial dystonias. 38
25951177 2015
47
Effect of upper eyelid myectomy on subsequent chemodenervation in the management of benign essential blepharospasm. 38
25192329 2015
48
Long-term therapy of benign essential blepharospasm and facial hemispasm with botulinum toxin A: retrospective assessment of the clinical and quality of life impact in patients treated for more than 15 years. 38
24604684 2014
49
Scientific skepticism and new discoveries: an analysis of a report of zinc/phytase supplementation and the efficacy of botulinum toxins in treating cosmetic facial rhytides, hemifacial spasm and benign essential blepharospasm. 38
25105993 2014
50
A direct comparison of onabotulinumtoxina (Botox) and IncobotulinumtoxinA (Xeomin) in the treatment of benign essential blepharospasm: a split-face technique. 38
24739994 2014
51
Facial dystonias and rosacea: is there an association? 38
24831933 2014
52
Long-term efficacy and safety of botulinum toxin A injections to treat blepharospasm and hemifacial spasm. 38
23844601 2014
53
The influence of benign essential blepharospasm on dry eye disease and ocular inflammation. 38
24269849 2014
54
Trigeminal high-frequency stimulation produces short- and long-term modification of reflex blink gain. 38
24285868 2014
55
Re: "Comparison of preferences between onabotulinumtoxinA (Botox) and incobotulinumtoxinA (Xeomin) in the treatment of benign essential blepharospasm". 38
24398499 2014
56
Reply Re: "Comparison of preferences between onabotulinumtoxinA (Botox) and incobotulinumtoxinA (Xeomin) in the treatment of benign essential blepharospasm". 38
24398500 2014
57
Efficacy of botulinum toxin in benign essential Blepharospasm: Desirable & undesirable effects. 38
24550960 2013
58
A resting state functional magnetic resonance imaging study of patients with benign essential blepharospasm. 38
23636105 2013
59
Myectomy for blepharospasm 2013. 38
23925062 2013
60
Long-term botulinum toxin treatment of benign essential blepharospasm, hemifacial spasm, and Meige syndrome. 38
23541393 2013
61
Comparison of preferences between onabotulinumtoxinA (Botox) and incobotulinumtoxinA (Xeomin) in the treatment of benign essential blepharospasm. 38
23552607 2013
62
Animal models for investigating benign essential blepharospasm. 38
23814538 2013
63
A comparison of facial muscle squeezing versus non-facial muscle squeezing on the efficacy of botulinumtoxin-A injections for the treatment of facial dystonia. 38
23061606 2012
64
Gender differences in benign essential blepharospasm. 38
22460669 2012
65
Effect of dietary zinc and phytase supplementation on botulinum toxin treatments. 38
22453589 2012
66
Quantification of macular carotenoids using autofluorescence imaging in patients with photosensitive migraine and benign essential blepharospasm. 38
22332230 2012
67
Botulinum toxin injections for blepharospasm prior to ocular surgeries. 38
22654489 2012
68
[Ocular wavefront aberrations in patients with facial dystonia treated with botulinum toxin]. 38
22331113 2011
69
Clinical features of patients with blepharospasm: a report of 240 patients. 38
20649903 2011
70
The blink reflex recovery cycle differs between essential and presumed psychogenic blepharospasm. 38
21321334 2011
71
Review and update of involuntary facial movement disorders presenting in the ophthalmological setting. 38
21093885 2011
72
Risk of glaucoma among patients with benign essential blepharospasm. 38
20724866 2010
73
Ophthaproblem. Can you identify this condition? Benign essential blepharospasm. 38
21075996 2010
74
Associative stimulation of the supraorbital nerve fails to induce timing-specific plasticity in the human blink reflex. 38
21049057 2010
75
Transcranial magnetic brain stimulation modulates blepharospasm: a randomized controlled study. 38
20956792 2010
76
Difference in response to botulinum toxin type A treatment between patients with benign essential blepharospasm and hemifacial spasm. 38
20456439 2010
77
[Botulinum toxin type A influence on the lacrimal function of patients with facial dystonia]. 38
21225122 2010
78
Can methylphenidate objectively provide relief in patients with uncontrolled blepharospasm? A pilot study using surface electromyography. 38
20683274 2010
79
The role of the injection botulinum toxin A in cases of blepharospasm syndrome, hemifacial spasm and Meige's syndrome. 38
22610735 2010
80
Treatment of benign essential blepharospasm with finasteride: a case report. 38
20386102 2010
81
Orbicularis oculi myo-osseous fixation: a new treatment for benign essential blepharospasm and blepharospasm associated with diffuse facial dystonia (meige syndrome). 38
20507022 2010
82
Blepharospasm and the modulation of cortical excitability in primary and secondary motor areas. 38
19996078 2009
83
Effect of reading on surface electromyogram recordings in patients with blepharospasm. 38
19966652 2009
84
Comparison of pain scores with 30-gauge and 32-gauge needles for periocular botulinum toxin type a injections. 38
19966651 2009
85
FL-41 tint improves blink frequency, light sensitivity, and functional limitations in patients with benign essential blepharospasm. 38
19410958 2009
86
High versus low concentration botulinum toxin A for benign essential blepharospasm: does dilution make a difference? 38
19300145 2009
87
Pain relief in patients receiving periocular botulinum toxin A. 38
18356715 2008
88
Efficacy and safety of purified botulinum toxin type A (Dysport) for the treatment of benign essential blepharospasm: a randomized, placebo-controlled, phase II trial. 38
18325821 2008
89
[Functional neurology of blepharospasm]. 38
18786893 2008
90
Closely spaced stressful life events precede the onset of benign essential blepharospasm and hemifacial spasm. 38
18090560 2007
91
Morphometric changes of sensorimotor structures in focal dystonia. 38
17443700 2007
92
Botulinum neurotoxin type A free of complexing proteins (XEOMIN) in focal dystonia. 38
17385940 2007
93
Efficacy of botulinum toxin type a after topical anesthesia. 38
17117100 2006
94
Use of high-dose botulinum A toxin in benign essential blepharospasm: is too high too much? 38
16872340 2006
95
The evaluation of light sensitivity in benign essential blepharospasm. 38
16815254 2006
96
Myobloc for the treatment of benign essential blepharospasm in patients refractory to botox. 38
16714924 2006
97
Apraxia of eyelid opening: clinical features and therapy. 38
16703535 2006
98
Enhanced long-term potentiation-like plasticity of the trigeminal blink reflex circuit in blepharospasm. 38
16407569 2006
99
Health-related quality of life and psychosocial characteristics of patients with benign essential blepharospasm. 38
16401794 2006
100
Benign essential blepharospasm: risk factors with reference to hemifacial spasm. 38
16340493 2005
101
Modulation of sensory photophobia in essential blepharospasm with chromatic lenses. 38
16242188 2005
102
Animal models of focal dystonia. 38
16389315 2005
103
Benign essential blepharospasm. 38
15860145 2005
104
Benign essential blepharospasm. 38
15970766 2005
105
Myotoxic effects of the skeletal muscle-specific immunotoxin, ricin-mAb35, on orbicularis oculi muscle after eyelid injections in rabbits. 38
15266147 2004
106
Cannabinoid agonists in the treatment of blepharospasm--a case report study. 38
15159681 2004
107
Chemodenervation for facial dystonias and wrinkles. 38
14502050 2003
108
Abnormalities of spatial discrimination in focal and generalized dystonia. 38
12821512 2003
109
Striatal activation during blepharospasm revealed by fMRI. 38
12796523 2003
110
Benign essential blepharospasm among residents of Olmsted County, Minnesota, 1976 to 1995: an epidemiologic study. 38
12918550 2003
111
A functional magnetic resonance imaging study in patients with benign essential blepharospasm. 38
12616082 2003
112
Blepharospasm: recent advances. 38
12434791 2002
113
Benign essential blepharospasm. 38
11914708 2002
114
Botulinum toxin for blepharospasm and hemifacial spasm: stability of duration of effect and dosage over time. 38
11794389 2001
115
Differential section of the seventh nerve as a tertiary procedure for the treatment of benign essential blepharospasm. 38
11476178 2001
116
Aging of the trigeminal blink system. 38
11243477 2001
117
Neuro-ophthalmology of movement disorders. 38
11141633 2000
118
The control of blepharospasm by essential fatty acids. 38
10754430 2000
119
A novel mechanism for benign essential blepharospasm. 38
10588244 1999
120
Doxorubicin does not spread systemically following a local injection into the eyelids of rabbits. 38
10487969 1999
121
Long-term enhancement of botulinum toxin injections by upper-eyelid surgery in 14 patients with facial dyskinesias. 38
10367918 1999
122
Positron emission tomography in patients with benign essential blepharospasm. 38
9949425 1999
123
Blepharospasm: past, present, and future. 38
9783280 1998
124
Drug-associated facial dyskinesias--a study of 238 patients. 38
9621275 1998
125
The role of blink adaptation in the pathophysiology of benign essential blepharospasm. 38
9152131 1997
126
Treatment selections of 239 patients with blepharospasm and Meige syndrome over 11 years. 38
9059273 1996
127
Relative absence of psychopathology in benign essential blepharospasm and hemifacial spasm. 38
8710122 1996
128
Long-term changes in duration of relief with botulinum toxin treatment of essential blepharospasm and hemifacial spasm. 38
9098314 1995
129
Facial tics. 38
8546615 1995
130
[New developments in 1991 in the field of the eyelids]. 38
8152189 1994
131
Relief of benign essential blepharospasm and ? memory loss by cyproheptadine. 38
8243089 1993
132
A possible feline model for human blepharospasm. 38
8098852 1993
133
Effects of eyelid protractor excision for the treatment of benign essential blepharospasm. 38
1598959 1992
134
Botulinum-induced alteration of nerve-muscle interactions in the human orbicularis oculi following treatment for blepharospasm. 38
1944912 1991
135
Clinical doxorubicin chemomyectomy. An experimental treatment for benign essential blepharospasm and hemifacial spasm. 38
2023757 1991
136
Botulinum toxin therapy. 38
2011110 1991
137
Innervation zone of orbicularis oculi muscle and implications for botulinum A toxin therapy. 38
1708272 1991
138
[The role of botulinum toxin in the treatment of essential blepharospasm]. 38
2255835 1990
139
Side effects of the use of botulinum toxin for treatment of benign essential blepharospasm and hemifacial spasm. 38
2381655 1990
140
Treatment of benign essential blepharospasm with cyproheptadine. 38
2308610 1990
141
Benign essential blepharospasm treated with botulinum toxin. 38
3665023 1987
142
Benign essential blepharospasm. 38
3624758 1987
143
Botulinum toxin for benign essential blepharospasm, hemifacial spasm and age-related lower eyelid entropion. 38
3815164 1987
144
The use of botulinum toxin in the medical management of benign essential blepharospasm. 38
3951806 1986
145
The use of botulinum toxin in blepharospasm. 38
4003489 1985
146
Treatment of essential blepharospasm. I. Comparison of facial nerve avulsion and eyebrow-eyelid muscle stripping procedure. 38
6696675 1984

Variations for Blepharospasm, Benign Essential

ClinVar genetic disease variations for Blepharospasm, Benign Essential:

6 (showing 1, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 DRD5 DRD5, (CT/GT/GA)n undetermined variant risk factor

Expression for Blepharospasm, Benign Essential

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

Pathways for Blepharospasm, Benign Essential

GO Terms for Blepharospasm, Benign Essential

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