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GTR Home > Conditions/Phenotypes > Hereditary spastic paraplegia 73

Hereditary spastic paraplegia 73

Synonyms
Spastic paraplegia 73, autosomal dominant
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

A pure form of hereditary spastic paraplegia with characteristics of adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies. [from SNOMEDCT_US]

Available tests

17 tests are in the database for this condition.

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Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CATL1, CPT I-C, CPT1-B, CPT1P, CPTI-B, CPTIC, SPG73, CPT1C
    Summary: carnitine palmitoyltransferase 1C

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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