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Dystonia 33

Summary

Dystonia-33 (DYT33) is a neurologic disorder characterized by onset of focal or generalized dystonia in the first decades of life (from early childhood to adolescence). The disorder is slowly progressive and may result in ambulation difficulties, dysarthria, or dysphagia. There is variable expressivity even with a family, as well as incomplete penetrance of the phenotype. Most mutations are in the heterozygous state, but a homozygous mutation with autosomal recessive inheritance has been reported, indicating variable patterns of transmission of DYT33. Some patients may have a more complex neurologic disorder with motor delay, lower limb spasticity, mild developmental delay with cognitive impairments, and nonspecific brain imaging abnormalities. There may be an exacerbation of the symptoms coinciding with viral infection or stress. Deep brain stimulation (DBS) may be therapeutic (summary by Kuipers et al., 2021). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: DYT33, EIF2AK1, LEUDEN, PKR, PPP1R83, PRKR, EIF2AK2
    Summary: eukaryotic translation initiation factor 2 alpha kinase 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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