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GTR Home > Conditions/Phenotypes > Hereditary spastic paraplegia 56

Hereditary spastic paraplegia 56

Synonyms
SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE, WITH OR WITHOUT PSEUDOXANTHOMA ELASTICUM; Spastic Paraplegia 56; Spastic paraplegia 56, autosomal recessive
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Spastic paraplegia-56 with or without pseudoxanthoma elasticum (SPG56) is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive lower-limb spasticity resulting in walking difficulties. Upper limbs are often also affected, and some patients may have a subclinical axonal neuropathy (summary by Tesson et al., 2012). Some patients also have pseudoxanthoma elasticum (Legrand et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see 270800. [from OMIM]

Available tests

23 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (23 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: P450TEC, SPG49, SPG56, CYP2U1
    Summary: cytochrome P450 family 2 subfamily U member 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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