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GTR Home > Conditions/Phenotypes > Ataxia - oculomotor apraxia type 4

Ataxia - oculomotor apraxia type 4

Synonyms
Ataxia-oculomotor apraxia 4
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Ataxia-oculomotor apraxia-4 (AOA4) is an autosomal recessive neurologic disorder characterized by onset of dystonia and ataxia in the first decade. Additional features include oculomotor apraxia and peripheral neuropathy. Some patients may show cognitive impairment. The disorder is progressive, and most patients become wheelchair-bound in the second or third decade (summary by Bras et al., 2015). For a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 (208920). [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: AOA4, CMT2B2, EIEE10, MCSZ, PNK, PNKP
    Summary: polynucleotide kinase 3'-phosphatase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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