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GTR Home > Conditions/Phenotypes > Torsion dystonia 4

Torsion dystonia 4

Synonyms
Autosomal dominant torsion dystonia 4; Dystonia musculorum deformans 4; Hereditary whispering dysphonia
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Dystonia-4 (DYT4), also known as whispering dysphonia, is an autosomal dominant neurologic disorder characterized by onset in the second to third decade of progressive laryngeal dysphonia followed by the involvement of other muscles, such as the neck or limbs. Some patients develop an ataxic gait (summary by Hersheson et al., 2013). [from OMIM]

Available tests

22 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (22 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DYT4, TUBB4, beta-5, TUBB4A
    Summary: tubulin beta 4A class IVa

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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