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Hereditary spastic paraplegia


Other Names for this Disease

  • Familial spastic paraparesis
  • FSP
  • HSP
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is hereditary spastic paraplegia?

What are the symptoms of hereditary spastic paraplegia?

How is hereditary spastic paraplegia (HSP) inherited?

How is hereditary spastic paraplegia (HSP) diagnosed?

How might hereditary spastic paraplegia (HSP) be treated?

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

What is hereditary spastic paraplegia?

Hereditary spastic paraplegia is a group of hereditary, degenerative, neurological disorders that primarily affect the upper motor neurons. Upper motor neurons in the brain and spinal cord deliver signals to the lower motor neurons which in turn, carry messages to the muscles. In hereditary spastic paraplegia, upper motor neurons slowly degenerate so the muscles do not receive the correct messages causing progressive spasticity (increased muscle tone/stiffness) and weakness of the legs leading to difficulty walking.  As degeneration continues, symptoms worsen.[1] 
Last updated: 1/31/2013

What are the symptoms of hereditary spastic paraplegia?

The main symptoms include a slow, progressive, spasticity and weakness of the legs that often gets severe, requiring assistive devices. There is also difficulty with balance, clumsiness, and often muscle spasms[1].
Last updated: 10/6/2011

How is hereditary spastic paraplegia (HSP) inherited?

At this point, over 30 different types of HSP have been described. The different patterns of inheritance are autosomal dominant, autosomal recessive, and X-linked recessive.[2]
Last updated: 10/7/2011

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 inhertiance that is either autosomal dominant, autosomal recessive, or X-linked recessive inheritance
  • Identification of a disease-causing mutation in an HSP-causing gene (Such testing is increasingly available and can confirm the diagnosis of HSP.) [2]

Last updated: 10/6/2011

How might hereditary spastic paraplegia (HSP) be treated?

There are no specific treatments to prevent, slow, or reverse HSP. Treatment is symptomatic and supportive. Regular physical therapy is important for muscle strength and to preserve range of motion.[3]
Last updated: 10/7/2011

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.[3]
Last updated: 10/7/2011

References
  1. Fink JK. A Comparison of Hereditary Spastic Paraparesis (HSP) and Primary Lateral Sclerosis (PLS). Spastic Paraplegia Foundation, Inc.. November 22, 2013; http://sp-foundation.org/understanding-hsp-pls/overview-summary-chart/. Accessed 10/22/2014.
  2. Fink J. Hereditary Spastic Paraplegia Overview. GeneReviews. February 6, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1509/. Accessed 10/23/2014.
  3. NINDS Hereditary Spastic Paraplegia Information Page. National Institute of Neurological Disorders and Stroke (NINDS). July 7, 2010; http://www.ninds.nih.gov/disorders/hereditary_spastic_paraplegia/hereditary_spastic_paraplegia.htm. Accessed 10/7/2011.


Other Names for this Disease
  • Familial spastic paraparesis
  • FSP
  • HSP
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.