Benign essential blepharospasm
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Primary blepharospasm |
| Number of Symptoms | 7 |
| OrphanetNr: | 93955 |
| OMIM Id: |
606798
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| ICD-10: |
G24.5 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance Sporadic [Omim] |
| Age of onset: |
Adulthood [Omim] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Focal, segmental or multifocal dystonia
-Rare neurologic disease |
Symptom Information:
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(HPO:0000643) | Blepharospasm | 20 / 7739 | ||||
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(MedDRA:10015946) | Eye irritation | 1 / 7739 | ||||
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(HPO:0003596) | Middle age onset | 5 / 7739 | ||||
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(HPO:0003745) | Sporadic | 131 / 7739 | ||||
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(OMIM) | Dystonia, focal, limited to orbicularis oculi muscle (blepharospasm) | 1 / 7739 | ||||
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(OMIM) | Involuntary spasms of eyelid closure (blepharospasm) | 1 / 7739 | ||||
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(OMIM) | Frequent blinking | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
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 ... |
| Clinical Description OMIM |
Misbahuddin et al. (2002) studied 88 patients with blepharospasm. The male-to-female ratio was 1:4. The mean age at onset was 55.83 years. Defazio et al. (2011) collected information on 122 consecutive Italian patients with blepharospasm in ... |
| Molecular genetics OMIM |
Misbahuddin et al. (2002) found an association between blepharospasm and allele 2 of a dinucleotide repeat of the DRD5 gene (126453.0001). Among 100 German and 121 French patients with idiopathic focal dystonia, including blepharospasm and torticollis, ... |