Search Ontology:
Human Disease

dystonia 32

Term ID
DOID:0060939
Synonyms
  • 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. https://pubmed.ncbi.nlm.nih.gov/33452836/
References
Ontology
Human Disease   ( DOID:0060939 )
Relationships
is a type of
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Genes Involved
Zebrafish Models