ECHS1-related paroxysmal dyskinesia

MONDO:0100019

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.

Also known as: ECHS1 deficiency-associated paroxysmal exercise-induced dyskinesia

14 clinical trials for this condition and its sub-types, 0 tagged with ECHS1-related paroxysmal dyskinesia itself.

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↑ Paroxysmal dyskinesia (3)

Including sub-types (14) Tagged with ECHS1-related paroxysmal dyskinesia (0)

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