blepharospasm benign essential

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blepharospasm benign essential2016-12-30T20:15:14+00:00

blepharospasm benign essential

NEUROLOGY

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

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

References http://www.uniprot.org/uniprot/P21918 

http://www.omim.org/entry/606798

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