Familial dyskinesia and facial myokymia

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Synonyms: FDFM

Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder with childhood or adolescent onset characterized by paroxysmal choreiform dystonic and myoclonic movements involving the limbs (mostly distal upper limbs) neck and/or face which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones perioral and periorbital dyskinesias dysarthria hypotonia and weakness.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

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