" /> Blepharospasm, benign essential, susceptibility to - CISMeF





Preferred Label : Blepharospasm, benign essential, susceptibility to;

Type : Phenotype, molecular basis known;

Description : 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 functional blindness (summary by Misbahuddin et al., 2002).;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by allele 2 of the dinucleotide repeat in the dopamine receptor gene (DRD5, 126453.0001);

Prefixed ID : #606798;

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28/07/2025


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