ECHS1-related paroxysmal dyskinesia

ECHS1-related paroxysmal dyskinesia is a rare condition that causes sudden episodes of abnormal movements known as dystonia. These episodes are brought on by sustained exercise and start most commonly between the ages of two and four. This condition is linked to a deficiency in the ECHS1 gene due to a missense mutation. The symptoms typically appear during or after prolonged physical activity, and the episodes can vary in severity. As research continues, more details about the condition may become available to help people understand the specific triggers and progression of the disorder.

Information about symptoms is currently limited for this condition.

The cause of ECHS1-related paroxysmal dyskinesia is linked to a deficiency in the ECHS1 gene arising from a missense mutation. This genetic change impacts the function of the protein produced by the gene, which is associated with the development of dyskinesia episodes. Additional details on other risk factors are not available at this time.

Information about treatment options and management approaches is currently limited for this condition.

Information about the prognosis and long-term outlook for this condition is currently limited.

Information about current research and future directions for this condition is currently limited.