Paraplegia, Hereditary Spastic

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
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Resources

WE MOVE (Worldwide Education and Awareness for Movement Disorders)
204 West 84th Street
New York, NY 10024
USA
Tel: (212)875-8312
Fax: (212)875-8389
Email: wemove@wemove.org
Internet: http://www.wemove.org

National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda, MD 20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Email: braininfo@ninds.nih.gov
Internet: http://www.ninds.nih.gov/

Tom Wahlig Foundation - JENA
Veghestrasse 22
Muenster, Intl 48149
Germany
Tel: 49 251 2007 9120
Fax: 49 251 2007 9122
Email: info@fsp-info.de
Internet: http://www.fsp-info.de

Spastic Paraplegia Foundation
11 Douglass Green
Woburn, MA 01801
USA
Tel: (877)773-4483
Email: info@sp-foundation.org
Internet: http://sp-foundation.org

MUMS (Mothers United for Moral Support, Inc) 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)519-3194
Fax: (240)632-9164
Tel: (888)205-2311
TDD: (888)205-3223
Email: gardinfo@nih.gov
Internet: http://www.genome.gov/10000409

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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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