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GTR Home > Conditions/Phenotypes > Early-onset generalized limb-onset dystonia

Early-onset generalized limb-onset dystonia

Synonyms
DYT1 Early-Onset Primary Dystonia; Dystonia 1; Dystonia 1, modifier of; Dystonia 1, torsion, autosomal dominant; Dystonia musculorum deformans 1; Dystonia-1, torsion; Early onset torsion dystonia; Early-Onset Primary Dystonia (DYT1); Oppenheim's dystonia
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

DYT1 early-onset isolated dystonia typically presents in childhood or adolescence and only on occasion in adulthood. Dystonic muscle contractions causing posturing or irregular tremor of a leg or arm are the most common presenting findings. Dystonia is usually first apparent with specific actions such as writing or walking. Over time, the contractions frequently (but not invariably) become evident with less specific actions and spread to other body regions. No other neurologic abnormalities are present. Disease severity varies considerably even within the same family. Isolated writer's cramp may be the only sign. [from GeneReviews]

Available tests

40 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (40 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AMC5, DQ2, DYT1, TOR1A
    Summary: torsin family 1 member A

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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