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Paraplegia, Hereditary Spastic

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Paraplegia, Hereditary Spastic is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Familial Spastic Paraplegia
  • FSP
  • HSP
  • Spastic Spinal Familial Paralysis
  • Strumpell's Familial Paraplegia
  • Strumpell-Lorrain Familial Spasmodic Paraplegia
  • Strumpell Disease
  • Strumpell-Lorraine Syndrome

Disorder Subdivisions

  • Hereditary spastic paraplegia, complicated
  • Hereditary spastic paraplegia, uncomplicated ("pure")

General Discussion

Hereditary spastic paraplegia (HSP) is a group of inherited neurological disorders characterized by progressive weakness (paraplegia) and increased muscle tone and stiffness (spasticity) of leg muscles. HSP is also sometimes referred to as familial spastic paraplegia (FSP) or Strumpell-Lorraine syndrome. The age at symptom onset and the degree of muscle weakness and spasticity may be extremely variable from case to case, including among individuals within the same family (kindred). According to reports in the medical literature, symptom onset may occur as early as infancy or as late as the eighth or ninth decade of life; however, symptoms may most often develop during early to mid-adulthood. Initial findings typically include stiffness and relatively mild weakness of leg muscles, balance difficulties, unexplained tripping and falls, and an unusually "clumsy" manner of walking (gait). As the disorder progresses, walking may become increasingly difficult. However, complete loss of the ability to walk is relatively rare.

HSP may be classified into two major subtypes: "uncomplicated" or "complicated" HSP. In individuals with uncomplicated (or "pure") HSP, progressive spastic paraplegia occurs as an isolated, primary finding. In those with complicated HSP, additional neurologic abnormalities are present. Some individuals with uncomplicated HSP may develop muscle spasms and difficulties with bladder control. In those with complicated HSP, associated symptoms and findings may include visual and/or hearing impairment, mental retardation, impaired control of voluntary movements (ataxia), and/or other abnormalities.

According to researchers, changes (mutations) of many different genes may cause HSP. In most cases, such mutations appear to be transmitted as an autosomal dominant trait. More rarely, mutations for HSP may be inherited as an autosomal recessive or X-linked recessive trait. The basic underlying defect or defects in HSP are unknown. However, associated symptoms appear to result from progressive degenerative changes of regions of the spinal cord (corticospinal tracts) that convey motor impulses from the brain to muscles involved in controlling certain voluntary movements

Resources

WE MOVE (Worldwide Education and Awareness for Movement Disorders)
5731 Mosholu Avenue
Bronx, NY 10471
USA
Tel: (347)843-6132
Fax: (718)601-5112
Email: wemove@wemove.org
Internet: http://www.wemove.org

NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
TDD: (301)468-5981
Email: me20t@nih.gov
Internet: http://www.ninds.nih.gov/

Tom Wahlig Foundation
Büro Veghestrasse 22
Münster, Intl 48149
Germany
Tel: +49-251-20079120
Fax: +49-251-20079122
Email: info@hsp-info.de
Internet: http://www.hsp-info.de

Spastic Paraplegia Foundation
7700 Leesburg Pike, Ste 123
Falls Church, VA 22043
USA
Tel: (877)773-4483
Email: information@sp-foundation.org
Internet: http://sp-foundation.org

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  9/17/2007
Copyright  1987, 1990, 1995, 1996, 1998, 1999, 2001, 2002, 2003, 2007 National Organization for Rare Disorders, Inc.

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