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Spastic paraplegia 83, autosomal recessive

Summary

Autosomal recessive spastic paraplegia-83 (SPG83) is a neurologic disorder characterized by progressive lower limb spasticity resulting in gait instability. Patients develop symptoms in the second decade, consistent with juvenile onset. Some patients may have myalgia or mild dysarthria, but the phenotype is considered to be a pure type of SPG with no additional neurologic abnormalities (summary by Husain et al., 2020). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: 4-HPPD-L, GLOXD1, NEDSWMA, SPG83, HPDL
    Summary: 4-hydroxyphenylpyruvate dioxygenase like

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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