Infantile-onset generalized dyskinesia with orofacial involvement

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Synonyms: Infantile-onset orofacial-trunk-limbs dyskinesia

A rare hyperkinetic movement disorder characterized by delayed motor development and infantile onset of axial hypotonia and a generalized hyperkinetic movement disorder principally with dyskinesia of the limbs and trunk and facial involvement including orolingual dyskinesia drooling and dysarthria. Variable hyperkinetic movements may include a jerky quality intermittent chorea and ballismus. Brain imaging is normal and cognitive performance is typically preserved.

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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