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GTR Home > Conditions/Phenotypes > Spastic tetraplegia and axial hypotonia, progressive

Spastic tetraplegia and axial hypotonia, progressive

Synonyms
SOD1 DEFICIENCY, AUTOSOMAL RECESSIVE

Summary

Progressive spastic tetraplegia and axial hypotonia (STAHP) is an autosomal recessive neurologic disorder characterized by onset of severe and progressive motor dysfunction in the first year of life. Affected individuals have severe axial hypotonia combined with spastic tetraplegia, hyperekplexia, hypertonia, and myokymia, reflecting upper motor neuron involvement. Cognitive development may be affected, but only 2 unrelated patients have been reported (Andersen et al., 2019; Park et al., 2019). [from OMIM]

Available tests

7 tests are in the database for this condition.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALS, ALS1, HEL-S-44, IPOA, SOD, STAHP, hSod1, homodimer, SOD1
    Summary: superoxide dismutase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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