Hereditary spastic paraplegia

How is hereditary spastic paraplegia (HSP) diagnosed?

HSP is diagnosed on the basis of the following: ****

  • 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 inheritance that is either autosomal dominant, autosomal recessive, or X-linked recessive
  • 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 on 05-01-20

How is hereditary spastic paraplegia (HSP) inherited?

At this point, over 70 different types of HSP have been described. The different patterns of inheritance are autosomal dominant, autosomal recessive, and X-linked recessive.

Last updated on 05-01-20

What is the prognosis for individuals with hereditary spastic paraplegia (HSP)?

The prognosis for individuals with HSP varies. Some individuals are very disabled and others have only mild disability. The majority of individuals with uncomplicated HSP have a normal life expectancy.

Last updated on 05-01-20

How might hereditary spastic paraplegia (HSP) be treated?

There are no specific treatments to prevent, slow, or reverse HSP. Treatment is symptomatic and supportive. Medications may be considered for spasticity and urinary urgency. Regular physical therapy is important for muscle strength and to preserve range of motion.

Last updated on 05-01-20

Name: Spastic Paraplegia Foundation SPF 1605 Goularte Place
Fremont, CA, 94539-7241, United States
Phone: 1-877-773-4483 Fax : 1-877-773-4483 Email: Url:

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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