Dystonia-aphonia syndrome is a rare genetic persistent combined dystonia disorder characterized by slowly progressive severe caudo-rostrally spreading generalized dystonia with prominent facial and oro-mandibular involvement leading to severe anarthria and/or aphonia swallowing difficulties and gait disturbances. Additional manifestations include slowed horizontal saccades subclinical epilepsy photic myoclonus oral hypertrophic changes (e.g. gingival or lingual hyperplasia) as well as delayed milestones and cognitive impairment.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024
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