benign essential blepharospasm

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benign essential blepharospasm

A primary dystonia (OMIM:606798) affecting the orbital muscles, characterised by frequent blinking, progressing to involuntary spasms of eyelid closure which can, over time, lead to functional blindness. It usually begins in middle age.

Molecular pathology
Defects in DRD5, which encodes dopamine receptor D5, causes benign essential blepharospasm.
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