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GTR Home > Conditions/Phenotypes > Autosomal recessive spastic paraplegia type 76

Autosomal recessive spastic paraplegia type 76

Summary

Spastic paraplegia-76 is an autosomal recessive neurologic disorder characterized by young-adult onset of slowly progressive spasticity of the lower limbs resulting in gait difficulties. Most affected individuals have upper limb involvement and additional features such as foot deformities and dysarthria. Cognition is unaffected (summary by Gan-Or et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800). [from OMIM]

Available tests

19 tests are in the database for this condition.

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Clinical tests (19 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CANP, CANP1, CANPL1, SPG76, muCANP, muCL, CAPN1
    Summary: calpain 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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