Dystonia-aphonia syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

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 February 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.

Get Concierge Help

Advocacy Organizations

Clinical Trials

For a list of clinical trials in this disease area, please click here.