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Diseases

Genetic and Rare Diseases Information Center (GARD)

Hereditary spastic paraplegia


Other Names for this Disease
  • HSP
  • Familial spastic paraparesis
  • FSP
Related Diseases
  • Hereditary spastic paraplegia - autosomal dominant inheritance
  • Hereditary spastic paraplegia - autosomal recessive inheritance
  • Hereditary spastic paraplegia – maternal inheritance
  • Hereditary spastic paraplegia - X-linked inheritance
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Tests & Diagnosis

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How is hereditary spastic paraplegia (HSP) diagnosed?

HSP is diagnosed on the basis of the following:[1][2]

  • Characteristic clinical symptoms of slowly progressive weakness and stiffness in the legs often accompanied by urinary urgency
  • Neurologic examination demonstrating damage to the nerve paths connecting the spinal cord and the brain (corticospinal tract), such as spastic weakness, exaggerated reflexes, typically associated with bilateral extensor plantar responses; often accompanied by a mild inability to sense vibration in the lower part of the legs and muscle changes of the urinary bladder
  • Family history shows a pattern of inhertiance that is either autosomal dominant, autosomal recessive, or X-linked recessive inheritance
  • Exclusion of other disorders that cause spasticity and weakness in the legs
  • Identification of a disease-causing mutation in an HSP-causing gene; such testing is increasingly available and can confirm the diagnosis of HSP.
Last updated: 4/25/2016

References
  1. About HSP (Hereditary Spastic Paraplegia). Spastic Paraplegia Foundation, Inc.. 2016; http://sp-foundation.org/understanding-pls-hsp/hsp.html.
  2. Fink J. Hereditary Spastic Paraplegia Overview. GeneReviews. February 6, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1509/.


Other Names for this Disease
  • HSP
  • Familial spastic paraparesis
  • FSP
Related Diseases
  • Hereditary spastic paraplegia - autosomal dominant inheritance
  • Hereditary spastic paraplegia - autosomal recessive inheritance
  • Hereditary spastic paraplegia – maternal inheritance
  • Hereditary spastic paraplegia - X-linked inheritance
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.