Dystonia-aphonia syndrome
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.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Dystonia-aphonia syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.