torsion dystonia 1

Summary
Synonym
  • dystonia musculorum deformans
Definition
A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34.
Super Class
autosomal dominant disease generalized dystonia
External Links
Disease Ontology
DOID:0060730
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
7915 ALDH5A1 aldehyde dehydrogenase 5 family member A1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P51649 Succinate-semialdehyde dehydrogenase, mitochondrial

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024