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dystonia 32
Summary
- Synonym
-
- DYT32
- Definition
- A dystonia characterized by onset of symptoms in adulthood, sustained or intermittent muscle contractions causing abnormal movements or posturing. The disorder is slowly progressive with eventual generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23.
- Super Class
- autosomal recessive disease dystonia
External Links
- Disease Ontology
- DOID:0060939
- Mondo Disease Ontology
- OMIM
