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Hereditary Spastic Paraplegia

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Hereditary Spastic Paraplegia 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 paraplegia
  • Strumpell disease
  • Strumpell-Lorrain syndrome
  • Strumpell-Lorrain familial spasmodic paraplegia
  • Strumpell’s familial paraplegia

Disorder Subdivisions

  • SPG1-SPG52

General Discussion

Summary
Hereditary spastic paraplegia (HSP) is a general term for an expanding group of rare genetic disorders characterized by slowly progressive weakness (paraplegia) and increased muscle tone and stiffness (spasticity) of leg muscles. The age of onset, rate of progression, associated symptoms, degree of muscle weakness and spasticity, and overall severity of HSP can vary greatly from one person to another, even among individuals with the same subtype or among individuals within the same family. HSP is classified as "pure" or "uncomplicated" if the symptoms are primarily confined to the aforementioned lower limb weakness and spasticity. Other symptoms can occur in the pure subtypes including bladder dysfunction or abnormal sensations in the lower legs or feet. HSP is classified as "complex" or "complicated" if additional symptoms are present such as an inability to coordinate voluntary movements (ataxia), seizures, intellectual disability, skin disease, dementia, and hearing and vision abnormalities. Individual forms of HSP are caused by a mutation to a specific gene. HSP can be inherited as autosomal dominant, autosomal recessive or X-linked condition.

Introduction
HSP was first reported in the medical literature in the 1880s by a German doctor named Adolph Strumpell. A French doctor named Maurice Lorrain provided further detailed descriptions of the disorder shortly thereafter. More than 50 different forms of HSP have been identified in the ensuing years. Several different names have been used to describe these disorders. Recently, researchers have proposed a classification system that names each subtype by the official abbreviation SPG and a number (e.g. SPG1). The subtypes a numbered in the order they were identified in the medical literature. HSPs are a rapidly growing disease family and information about these disorders is constantly changing.

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
Internet: http://www.ninds.nih.gov/

Tom Wahlig Foundation
Büro Veghestrasse 22
Münster, 48149
Germany
Tel: 4925120079120
Fax: 4925120079122
Email: info@hsp-info.de
Internet: http://www.hsp-info.de

Spastic Paraplegia Foundation
5305 Miramar Ln
Colleyville, TX 76034
USA
Tel: (877)773-4483
Email: information@sp-foundation.org
Internet: http://sp-foundation.org

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:  5/7/2013
Copyright  1987, 1990, 1995, 1996, 1998, 1999, 2001, 2002, 2003, 2007, 2013 National Organization for Rare Disorders, Inc.

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