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GTR Home > Conditions/Phenotypes > Hereditary spastic paraplegia 42

Hereditary spastic paraplegia 42

Synonyms
SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT; Spastic Paraplegia 42
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

A pure form of hereditary spastic paraplegia with characteristics of slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging. [from SNOMEDCT_US]

Available tests

34 tests are in the database for this condition.

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Clinical tests (34 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACATN, AT-1, AT1, CCHLND, HPBDS, SPG42, SLC33A1
    Summary: solute carrier family 33 member 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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