ECHS1-related paroxysmal dyskinesia

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Disease Overview

A paroxysmal dyskinesia which manifest as dystonic movements brought on by sustained exercise, that is correlated with a deficiency in the gene ECHS1 (caused by a missence mutation). Onset is typically between age two and four years.


Synonyms

  • ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesia