MCID: BLP015
MIFTS: 20

Blepharospasm, Primary Benign malady

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

Aliases & Classifications for Blepharospasm, Primary Benign

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Aliases & Descriptions for Blepharospasm, Primary Benign:

Name: Blepharospasm, Primary Benign 49 11
Benign Essential Blepharospasm 67 65
 
Beb 67

Characteristics:

HPO:

61
blepharospasm, primary benign:
Onset and clinical course: middle age onset
Inheritance: sporadic


Classifications:



External Ids:

OMIM49 606798
MeSH36 D001764
UMLS65 C2930898

Summaries for Blepharospasm, Primary Benign

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NINDS:46 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, Primary Benign, also known as benign essential blepharospasm, is related to blepharospasm, and has symptoms including blepharospasm An important gene associated with Blepharospasm, Primary Benign is DRD5 (Dopamine Receptor D5). Affiliated tissues include eye.

UniProtKB/Swiss-Prot:67 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.

Genetics Home Reference:23 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:49 Blepharospasm is a primary focal dystonia affecting the orbicularis oculi muscles, usually beginning in middle age.... (606798) more...

Related Diseases for Blepharospasm, Primary Benign

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Diseases in the Blepharospasm family:

blepharospasm, primary benign

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

idRelated DiseaseScoreTop Affiliating Genes
1blepharospasm11.7

Symptoms for Blepharospasm, Primary Benign

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Symptoms by clinical synopsis from OMIM:

606798

Clinical features from OMIM:

606798

HPO human phenotypes related to Blepharospasm, Primary Benign:

id Description Frequency HPO Source Accession
1 blepharospasm HP:0000643

Drugs & Therapeutics for Blepharospasm, Primary Benign

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

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Acetylcholineexperimental68951-84-3187
Synonyms:
ACh
Acetyl choline ion
Acetylcholine Chloride
Acetylcholine cation
 
Acetylcholinium: acetyl-Choline
Choline acetate
Choline acetate (ester)
Miochol E
O-Acetylcholine
acetylcholine chloride
2Neuromuscular Agents922
3OnabotulinumtoxinA588
4Peripheral Nervous System Agents18510
5IncobotulinumtoxinA599
6AbobotulinumtoxinA588
7Botulinum Toxins616
8Cholinergic Agents3243
9Neurotransmitter Agents14795
10Botulinum Toxins, Type A588

Interventional clinical trials:

idNameStatusNCT IDPhase
1rTMS and Botulinum Toxin in Benign Essential BlepharospasmRecruitingNCT02370875
2Comparison of Different Botulinum Toxin A Injection Patterns in the Treatment of BlepharospasmRecruitingNCT02327728
3Blepharospasm ToolsNot yet recruitingNCT02780336

Search NIH Clinical Center for Blepharospasm, Primary Benign

Genetic Tests for Blepharospasm, Primary Benign

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Anatomical Context for Blepharospasm, Primary Benign

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MalaCards organs/tissues related to Blepharospasm, Primary Benign:

33
Eye

Animal Models for Blepharospasm, Primary Benign or affiliated genes

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Publications for Blepharospasm, Primary Benign

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Variations for Blepharospasm, Primary Benign

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Clinvar genetic disease variations for Blepharospasm, Primary Benign:

5
id Gene Variation Type Significance SNP ID Assembly Location
1DRD5DRD5, (CT/GT/GA)nundetermined variantPathogenic

Expression for genes affiliated with Blepharospasm, Primary Benign

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

Pathways for genes affiliated with Blepharospasm, Primary Benign

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GO Terms for genes affiliated with Blepharospasm, Primary Benign

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Sources for Blepharospasm, Primary Benign

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet