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Diseases

Genetic and Rare Diseases Information Center (GARD)

Spastic paraplegia 11


Other Names for this Disease
  • SPG11
  • Hereditary spastic paraplegia mental impairment and thin corpus callosum
  • Autosomal recessive spastic paraplegia type 11
  • Hereditary spastic paraplegia 11
  • Nakamura Osame syndrome
Related Diseases
  • Hereditary spastic paraplegia - autosomal dominant inheritance
  • Hereditary spastic paraplegia - autosomal recessive inheritance
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 11 (SPG11) is a form of hereditary spastic paraplegia. People with SPG11 experience worsening muscle stiffness leading to eventual paralysis of the lower limbs, as well as a range of other neurologic symptoms that may include intellectual disability, speech difficulties (dysarthria), and reduced bladder control.[1] Additionally, the tissue connecting the left and right halves of the brain (corpus callosum) is abnormally thin in most individuals with SPG11. Onset of symptoms typically occurs during infancy or adolescence.[2][3] SPG11 is caused by mutations in the SPG11 gene and is inherited in an autosomal recessive fashion.[4] Treatment is focused on managing symptoms and may include physical therapy and antispastic medications to prolong muscle control.[2]

Last updated: 5/31/2016

References

  1. Spastic paraplegia 11, autosomal recessive SPG11. Online Mendelian Inheritance in Man. 2010; http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=604360. Accessed 4/16/2010.
  2. Stevanin G, Durr A, Brice A. Spastic paraplegia 11. GeneReviews. January 31, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1210/.
  3. Martha A. Nance. Hereditary Spastic Paraplegia. NORD. 2013; http://rarediseases.org/rare-diseases/hereditary-spastic-paraplegia/.
  4. Spastic paraplegia type 11. Genetics Home Reference. 2009; https://ghr.nlm.nih.gov/condition/spastic-paraplegia-type-11. Accessed 5/31/2016.
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Basic Information

In Depth Information

  • 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 11. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • SPG11
  • Hereditary spastic paraplegia mental impairment and thin corpus callosum
  • Autosomal recessive spastic paraplegia type 11
  • Hereditary spastic paraplegia 11
  • Nakamura Osame syndrome
Related Diseases
  • Hereditary spastic paraplegia - autosomal dominant inheritance
  • Hereditary spastic paraplegia - autosomal recessive inheritance
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.