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GTR Home > Conditions/Phenotypes > Spastic ataxia 5

Spastic ataxia 5

Synonyms
Spastic ataxia 5, autosomal recessive
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Spastic ataxia-5 (SPAX5) is an autosomal recessive neurodegenerative disorder characterized by early-onset spasticity resulting in significantly impaired ambulation, cerebellar ataxia, oculomotor apraxia, dystonia, and myoclonic epilepsy (summary by Pierson et al., 2011). For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (108600). [from OMIM]

Available tests

38 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (38 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: OPA12, SCA28, SPAX5, AFG3L2
    Summary: AFG3 like matrix AAA peptidase subunit 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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