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Metadata
ID DOID:0060939
Name dystonia 32
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/
Xrefs

MIM:619637

Synonyms

DYT32 [EXACT]

Parent Relationships

is_a dystonia

is_a autosomal recessive disease

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