Blepharospasm

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References Literature
Blepharospasm is related to dystonia 24 and aceruloplasminemia, and has symptoms including myoclonus, torticollis and spasmodic torticollis. An important gene associated with Blepharospasm is DRD5 (Dopamine Receptor D5), and among its related pathways/superpathways are Iron metabolism disorders and Involvement of -secretase in neurodegenerative diseases. The drugs Cannabidiol and Acetylcholine have been mentioned in the context of this disorder. Affiliated tissues include eye and cerebellum, and related phenotypes are nervous system and homeostasis/metabolism
Related ID:
MESH:D001764

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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21
215
2

Medical Symptom

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Gene & Mutation

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References Literature

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