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Diseases

Genetic and Rare Diseases Information Center (GARD)

Spastic paraplegia 4


Other Names for this Disease
  • SPG4
  • Autosomal dominant spastic paraplegia 4
  • Familial spastic paraplegia autosomal dominant 2
  • FSP2
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

Spastic paraplegia 4 (SPG4) is the most common type of hereditary spastic paraplegia (HSP) inherited in an autosomal dominant manner. Disease onset ranges from infancy to older adulthood. SPG4 is characterized by slowly progressive muscle weakness and spasticity (stiff or rigid muscles) in the lower half of the body. In rare cases, individuals may have a more complex form with seizures, ataxia, and dementia. SPG4 is caused by mutations in the SPAST gene.[1][2] Severity of symptoms usually worsens over time, however some individuals remain mildly affected throughout their lives.[3] Medications, such as antispastic drugs and physical therapy may aid in stretching spastic muscles and preventing contractures (fixed tightening of muscles).[1][2]
Last updated: 5/27/2016

References

  1. Nance MA. Hereditary Spastic Paraplegia. National Organization for Rare Disorders (NORD). 2013; http://rarediseases.org/rare-diseases/hereditary-spastic-paraplegia/.
  2. Spastic paraplegia 4. Genetics Home Reference. January 2008; https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-4. Accessed 5/27/2016.
  3. Dürr A, Tallaksen C, Depienne C. Spastic Paraplegia 4. GeneReveiws. Aug 16 2012; https://www.ncbi.nlm.nih.gov/books/NBK1160.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Spastic paraplegia 4. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
  • The Spastic Paraplegia Foundation, a nonprofit organization supporting spastic paraplegia, offers information on Spastic paraplegia 4

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Spastic paraplegia 4. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • SPG4
  • Autosomal dominant spastic paraplegia 4
  • Familial spastic paraplegia autosomal dominant 2
  • FSP2
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.