Regulation of Transcription Ontology

Last uploaded: December 4, 2018
Preferred Name

Benign essential blepharospasm

Synonyms

BEB

Definitions

(BEB) - 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.

ID

http://identifiers.org/omim/606798

altLabel

BEB

definition

(BEB) - 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.

id

OMIM:606798

notation

OMIM:606798

prefLabel

Benign essential blepharospasm

subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031

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