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GTR Home > Conditions/Phenotypes > Dystonia 31

Dystonia 31

Synonyms
ZECH-BOESCH SYNDROME

Summary

Dystonia-31 (DYT31) is an autosomal recessive progressive neurologic disorder characterized by involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties. The age at onset ranges from childhood to young adulthood. There are usually no additional neurologic symptoms, although late-onset parkinsonism was reported in 1 family (summary by Zech et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: AP-O, APO, C90RF3, C9orf3, DYT31, ONPEP, AOPEP
    Summary: aminopeptidase O (putative)

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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