Segmental Dystonia

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Gene & Mutation

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Disease Model

References Literature

Segmental Dystonia is related to dystonia 27 and torticollis. An important gene associated with Segmental Dystonia is THAP1 (THAP Domain Containing 1), and among its related pathways/superpathways are Biogenic amine synthesis and Metabolism of cofactors. The drugs Benzocaine and Tannic acid have been mentioned in the context of this disorder. Affiliated tissues include subthalamic nucleus and brain, and related phenotypes are nervous system and homeostasis/metabolism

Related ID：

MALACARDS：SGM008