MCID: BLP015
MIFTS: 25

Blepharospasm, Primary Benign

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

Aliases & Classifications for Blepharospasm, Primary Benign

MalaCards integrated aliases for Blepharospasm, Primary Benign:

Name: Blepharospasm, Primary Benign 54 13
Benign Essential Blepharospasm 50 25 51 71 69
Blepharospasm 50 69
Beb 50 71
Essential Blepharospasm 25
Primary Blepharospasm 25
Eyelid Twitching 25
Spasm of Eyelids 25

Characteristics:

OMIM:

54
Miscellaneous:
mean age of onset 56 years

Inheritance:
isolated cases


HPO:

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


Classifications:



External Ids:

OMIM 54 606798
MeSH 42 D001764
SNOMED-CT via HPO 65 59026006

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 cerebellar ataxia, 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 abobotulinumtoxinA 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. 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 : 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 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 : 71 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 cerebellar ataxia 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 via clinical synopsis from OMIM:

54

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

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


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 9)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved 51-84-3 187
2 abobotulinumtoxinA
3 Botulinum Toxins
4 Botulinum Toxins, Type A
5 Cholinergic Agents
6 Neuromuscular Agents
7 Neurotransmitter Agents
8 onabotulinumtoxinA
9 Peripheral Nervous System Agents

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 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
2 Blepharospasm Tools Recruiting NCT02780336
3 rTMS and Botulinum Toxin in Benign Essential Blepharospasm Active, not recruiting NCT02370875

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

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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